Budd-Chiari Syndrome

Complex MONDO:0010947 Pathograph 7 Vascular Disorder Hepatic Venous Outflow Obstruction

Budd-Chiari syndrome is a hepatic venous outflow obstruction disorder in which thrombosis or stenosis of hepatic veins or the terminal inferior vena cava causes hepatic congestion, portal hypertension, and liver injury.

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Definitions

Inheritance

Histopathology

Differentials

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Deep Research

◆

Subtypes

Primary Budd-Chiari Syndrome

Budd-Chiari syndrome caused by intrinsic venous pathology such as thrombosis, webs, or endophlebitis.

Secondary Budd-Chiari Syndrome

Budd-Chiari syndrome caused by extrinsic compression or invasion of the hepatic venous outflow tract.

Classical Budd-Chiari Syndrome

Primary Budd-Chiari syndrome involving the hepatic veins.

Hepatic Vena Cava Budd-Chiari Syndrome

Primary Budd-Chiari syndrome involving the intrahepatic or suprahepatic inferior vena cava.

⚙

Pathophysiology

Systemic Prothrombotic Predisposition

Primary Budd-Chiari syndrome commonly occurs in patients with acquired or inherited prothrombotic conditions, especially myeloproliferative disorders.

blood coagulation link ↑ INCREASED

Downstream

Hepatic Venous Outflow Obstruction Prothrombotic states promote hepatic venous thrombosis or fibrous sequelae that block hepatic venous outflow.

Show evidence (2 references)

PMID:19012988 SUPPORT Human Clinical

"Multiple risk factors have been identified and are often combined in the same patient."

This supports multifactorial prothrombotic susceptibility in primary Budd-Chiari syndrome.

PMID:19012988 SUPPORT Human Clinical

"Myeloproliferative diseases of atypical presentation account for nearly 50% of patients; their diagnosis can be made by showing the V617F mutation in Janus tyrosine kinase-2 gene of peripheral blood granulocytes and, should this mutation be absent, by showing clusters of dystrophic..."

This supports myeloproliferative disease and JAK2 V617F testing as a central prothrombotic context for Budd-Chiari syndrome.

Hepatic Venous Outflow Obstruction

Obstruction of hepatic venous drainage raises sinusoidal pressure and causes hepatic congestion.

endothelial cell link

blood coagulation link ↑ INCREASED

Downstream

Portal Hypertension and Congestive Liver Injury Hepatic venous obstruction increases sinusoidal pressure, impairs portal flow, and causes congestive liver injury.

Show evidence (2 references)

PMID:19012988 SUPPORT Human Clinical

"Primary Budd-Chiari syndrome is characterized by a blocked hepatic venous outflow tract at various levels from small hepatic veins to inferior vena cava, resulting from thrombosis or its fibrous sequellae."

This review directly defines primary Budd-Chiari syndrome as hepatic venous outflow obstruction caused by thrombosis or fibrous sequelae.

PMID:32982109 SUPPORT Human Clinical

"BCS develops from a spectrum of diseases determining hepatic venous outflow obstruction, both thrombotic and non-thrombotic."

This full-text review supports both thrombotic and non-thrombotic causes of hepatic venous outflow obstruction in Budd-Chiari syndrome.

Portal Hypertension and Congestive Liver Injury

Sustained hepatic venous congestion drives portal hypertension, ascites, hepatomegaly, and progressive liver dysfunction.

hepatocyte link

response to hypoxia link ↑ INCREASED

Downstream

Congestive Hepatic Fibrosis Persistent venous congestion and hepatocyte hypoxic injury can progress to fibrosis, cirrhosis, and liver failure.

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

"The obstruction of the hepatic veins results in increase of hepatic sinusoidal pressure, sinusoid dilation, and filtration of interstitial fluid, which leads to ascites; in addition, there is increase in the intrahepatic resistances and, therefore, decrease in portal venous flow, leading to..."

This mechanistic passage links venous obstruction to sinusoidal hypertension, ascites, impaired portal flow, and hepatocyte hypoxic injury.

Congestive Hepatic Fibrosis

Untreated hepatic venous outflow obstruction can cause rapid congestive fibrosis and progressive liver failure.

hepatic stellate cell link

extracellular matrix organization link ↑ INCREASED

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

"If left untreated, the natural course of the disease is extremely unfavorable with a mortality rate of 50% in 2 years, while the 3-year survival rate of untreated patients is < 10%, as the venous outflow obstruction leads to hepatic congestion and fulminant fibrosis, typically within 3 mo[11]."

This supports hepatic congestion progressing to fulminant fibrosis in untreated Budd-Chiari syndrome.

⬡

Pathograph

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●

Phenotypes

Cardiovascular 2

Splenomegaly COMMON Splenomegaly (HP:0001744)

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

"The typical and most common form of clinical presentation of BCS is the chronic one, with a slow-onset pain in the right upper abdomen, jaundice (not always present in chronic form), hepatosplenomegaly, progressive abdominal swelling/stretching (due to ascites), haematemesis (due to esophageal..."

The common chronic Budd-Chiari presentation includes hepatosplenomegaly, supporting splenic enlargement as a common phenotype.

Portal Hypertension COMMON Portal hypertension (HP:0001409)

Show evidence (1 reference)

PMID:23868034 SUPPORT Human Clinical

"A therapeutic strategy has been proposed where anticoagulation, correction of risk factors, diuretics and prophylaxis for portal hypertension are used first; then angioplasty for shortlength venous stenosis; then Transjugular Intrahepatic Portosystemic Shunt (TIPS); and ultimately liver transplantation."

The management review identifies portal hypertension as a disease consequence requiring prophylaxis.

Digestive 4

Ascites COMMON Ascites (HP:0001541)

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

The clinical review explicitly lists ascites-related abdominal distension as part of common chronic Budd-Chiari presentation.

Hepatomegaly COMMON Hepatomegaly (HP:0002240)

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

The quoted presentation includes hepatosplenomegaly, supporting liver enlargement as part of the phenotype.

Jaundice OCCASIONAL Jaundice (HP:0000952)

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

Jaundice is explicitly listed in the common chronic presentation, with the caveat that it is not always present.

Esophageal Varices COMMON Esophageal varix (HP:0002040)

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

The review links portal hypertension to esophageal varices and haematemesis in chronic Budd-Chiari syndrome.

Genitourinary 1

Renal Impairment COMMON Renal insufficiency (HP:0000083)

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

"50% of patients can manifest renal impairment[31-33]."

The review reports renal impairment in half of patients with chronic Budd-Chiari syndrome, supporting common renal involvement.

Constitutional 1

Abdominal Pain COMMON Abdominal pain (HP:0002027)

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

This supports right upper abdominal pain as a common clinical manifestation.

🧬

Genetic Associations

JAK2 V617F-associated myeloproliferative disease (Somatic prothrombotic risk factor)

Show evidence (1 reference)

PMID:19012988 SUPPORT Human Clinical

This review identifies JAK2 V617F-positive myeloproliferative disease as a frequent prothrombotic association in Budd-Chiari syndrome.

Factor V Leiden thrombophilia (Inherited prothrombotic risk factor)

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

"Factor V Leiden mutation, prothrombin gene mutation, protein C deficiency, antiphospholipid syndrome, antithrombin-III deficiency"

This review lists factor V Leiden among hypercoagulability disorders that cause primary Budd-Chiari syndrome.

💊

Treatments

Anticoagulation

Action: anticoagulant therapy Ontology label: anticoagulant agent therapy MAXO:0000178

Agent: warfarin ↗ heparin ↗

Anticoagulation is used to limit thrombus propagation and recurrent venous thrombosis when not contraindicated.

Show evidence (1 reference)

PMID:23868034 SUPPORT Human Clinical

This source places anticoagulation at the start of the stepwise treatment strategy for Budd-Chiari syndrome.

Transjugular Intrahepatic Portosystemic Shunt

Action: transjugular intrahepatic portosystemic shunt Ontology label: Transjugular Intrahepatic Portosystemic Shunt NCIT:C126288

TIPS can decompress portal hypertension and restore effective hepatic outflow in selected patients.

Mechanism Target:

MODULATES Portal Hypertension and Congestive Liver Injury — TIPS decompresses portal hypertension and improves hepatic sinusoidal perfusion despite persistent venous outflow obstruction.

Show evidence (1 reference)

PMID:32982109 SUPPORT Human Clinical

"TIPS is today considered a safe and highly effective treatment and should be recommended for BCS patients, including those awaiting orthotopic liver transplantation."

The review supports TIPS as an effective treatment option for selected Budd-Chiari syndrome patients.

Angioplasty for Short Venous Stenosis

Action: angioplasty Ontology label: Angioplasty NCIT:C51999

Angioplasty is used in the stepwise strategy when short hepatic venous or inferior vena cava stenoses are anatomically suitable for recanalization.

Mechanism Target:

RESTORES Hepatic Venous Outflow Obstruction — Recanalization relieves focal venous outflow obstruction.

Show evidence (1 reference)

PMID:19012988 SUPPORT Human Clinical

"A therapeutic strategy has been proposed where anticoagulation, correction of risk factors, diuretics and prophylaxis for portal hypertension are used first; then angioplasty for short-length venous stenoses; then TIPS; and ultimately liver transplantation."

The review places angioplasty after first-line medical therapy for short venous stenoses.

Liver Transplantation

Action: liver transplantation MAXO:0001175

Liver transplantation is reserved for refractory or advanced Budd-Chiari syndrome when medical and endovascular strategies fail or liver failure is advanced.

Mechanism Target:

BYPASSES Congestive Hepatic Fibrosis — Transplantation replaces the failing congested and fibrotic liver when other therapies are insufficient.

Show evidence (1 reference)

PMID:23868034 SUPPORT Human Clinical

This stepwise management review places liver transplantation as the final option after medical therapy, angioplasty, and TIPS.

{ }

Source YAML

click to show

name: Budd-Chiari Syndrome
creation_date: "2026-05-06T11:55:49Z"
updated_date: "2026-05-06T13:20:00Z"
category: Complex
description: >-
  Budd-Chiari syndrome is a hepatic venous outflow obstruction disorder in
  which thrombosis or stenosis of hepatic veins or the terminal inferior vena
  cava causes hepatic congestion, portal hypertension, and liver injury.
disease_term:
  preferred_term: Budd-Chiari syndrome
  term:
    id: MONDO:0010947
    label: Budd-Chiari syndrome
parents:
- Vascular Disorder
- Hepatic Venous Outflow Obstruction
synonyms:
- BCS
- Hepatic venous outflow obstruction
- Hepatic vein thrombosis
has_subtypes:
- name: Primary Budd-Chiari Syndrome
  description: >-
    Budd-Chiari syndrome caused by intrinsic venous pathology such as
    thrombosis, webs, or endophlebitis.
- name: Secondary Budd-Chiari Syndrome
  description: >-
    Budd-Chiari syndrome caused by extrinsic compression or invasion of the
    hepatic venous outflow tract.
- name: Classical Budd-Chiari Syndrome
  description: >-
    Primary Budd-Chiari syndrome involving the hepatic veins.
- name: Hepatic Vena Cava Budd-Chiari Syndrome
  description: >-
    Primary Budd-Chiari syndrome involving the intrahepatic or suprahepatic
    inferior vena cava.
pathophysiology:
- name: Systemic Prothrombotic Predisposition
  description: >-
    Primary Budd-Chiari syndrome commonly occurs in patients with acquired or
    inherited prothrombotic conditions, especially myeloproliferative disorders.
  biological_processes:
  - preferred_term: blood coagulation
    term:
      id: GO:0007596
      label: blood coagulation
    modifier: INCREASED
  evidence:
  - reference: PMID:19012988
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Multiple risk factors have been identified and are often combined in the
      same patient.
    explanation: >-
      This supports multifactorial prothrombotic susceptibility in primary
      Budd-Chiari syndrome.
  - reference: PMID:19012988
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Myeloproliferative diseases of atypical presentation account for nearly
      50% of patients; their diagnosis can be made by showing the V617F mutation
      in Janus tyrosine kinase-2 gene of peripheral blood granulocytes and,
      should this mutation be absent, by showing clusters of dystrophic
      megacaryocytes at bone marrow biopsy.
    explanation: >-
      This supports myeloproliferative disease and JAK2 V617F testing as a
      central prothrombotic context for Budd-Chiari syndrome.
  downstream:
  - target: Hepatic Venous Outflow Obstruction
    description: >-
      Prothrombotic states promote hepatic venous thrombosis or fibrous
      sequelae that block hepatic venous outflow.
- name: Hepatic Venous Outflow Obstruction
  description: >-
    Obstruction of hepatic venous drainage raises sinusoidal pressure and causes
    hepatic congestion.
  cell_types:
  - preferred_term: endothelial cell
    term:
      id: CL:0000115
      label: endothelial cell
  biological_processes:
  - preferred_term: blood coagulation
    term:
      id: GO:0007596
      label: blood coagulation
    modifier: INCREASED
  evidence:
  - reference: PMID:19012988
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Primary Budd-Chiari syndrome is characterized by a blocked hepatic venous
      outflow tract at various levels from small hepatic veins to inferior vena
      cava, resulting from thrombosis or its fibrous sequellae.
    explanation: >-
      This review directly defines primary Budd-Chiari syndrome as hepatic
      venous outflow obstruction caused by thrombosis or fibrous sequelae.
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      BCS develops from a spectrum of diseases determining hepatic venous
      outflow obstruction, both thrombotic and non-thrombotic.
    explanation: >-
      This full-text review supports both thrombotic and non-thrombotic causes
      of hepatic venous outflow obstruction in Budd-Chiari syndrome.
  downstream:
  - target: Portal Hypertension and Congestive Liver Injury
    description: >-
      Hepatic venous obstruction increases sinusoidal pressure, impairs portal
      flow, and causes congestive liver injury.
- name: Portal Hypertension and Congestive Liver Injury
  description: >-
    Sustained hepatic venous congestion drives portal hypertension, ascites,
    hepatomegaly, and progressive liver dysfunction.
  cell_types:
  - preferred_term: hepatocyte
    term:
      id: CL:0000182
      label: hepatocyte
  biological_processes:
  - preferred_term: response to hypoxia
    term:
      id: GO:0001666
      label: response to hypoxia
    modifier: INCREASED
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The obstruction of the hepatic veins results in increase of hepatic
      sinusoidal pressure, sinusoid dilation, and filtration of interstitial
      fluid, which leads to ascites; in addition, there is increase in the
      intrahepatic resistances and, therefore, decrease in portal venous flow,
      leading to hypoxic damage of hepatocytes[14].
    explanation: >-
      This mechanistic passage links venous obstruction to sinusoidal
      hypertension, ascites, impaired portal flow, and hepatocyte hypoxic injury.
  downstream:
  - target: Congestive Hepatic Fibrosis
    description: >-
      Persistent venous congestion and hepatocyte hypoxic injury can progress
      to fibrosis, cirrhosis, and liver failure.
- name: Congestive Hepatic Fibrosis
  description: >-
    Untreated hepatic venous outflow obstruction can cause rapid congestive
    fibrosis and progressive liver failure.
  conforms_to: "fibrotic_response#Mesenchymal Cell Activation"
  cell_types:
  - preferred_term: hepatic stellate cell
    term:
      id: CL:0000632
      label: hepatic stellate cell
  biological_processes:
  - preferred_term: extracellular matrix organization
    term:
      id: GO:0030198
      label: extracellular matrix organization
    modifier: INCREASED
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      If left untreated, the natural course of the disease is extremely
      unfavorable with a mortality rate of 50% in 2 years, while the 3-year
      survival rate of untreated patients is < 10%, as the venous outflow
      obstruction leads to hepatic congestion and fulminant fibrosis, typically
      within 3 mo[11].
    explanation: >-
      This supports hepatic congestion progressing to fulminant fibrosis in
      untreated Budd-Chiari syndrome.
genetic:
- name: JAK2 V617F-associated myeloproliferative disease
  association: Somatic prothrombotic risk factor
  gene_term:
    preferred_term: JAK2
    term:
      id: hgnc:6192
      label: JAK2
  features: >-
    Myeloproliferative disease with JAK2 V617F is a common acquired
    prothrombotic context for primary Budd-Chiari syndrome.
  evidence:
  - reference: PMID:19012988
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Myeloproliferative diseases of atypical presentation account for nearly
      50% of patients; their diagnosis can be made by showing the V617F mutation
      in Janus tyrosine kinase-2 gene of peripheral blood granulocytes and,
      should this mutation be absent, by showing clusters of dystrophic
      megacaryocytes at bone marrow biopsy.
    explanation: >-
      This review identifies JAK2 V617F-positive myeloproliferative disease as a
      frequent prothrombotic association in Budd-Chiari syndrome.
- name: Factor V Leiden thrombophilia
  association: Inherited prothrombotic risk factor
  gene_term:
    preferred_term: F5
    term:
      id: hgnc:3542
      label: F5
  features: >-
    Factor V Leiden is an inherited thrombophilia that can contribute to
    thrombotic hepatic venous outflow obstruction.
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Factor V Leiden mutation, prothrombin gene mutation, protein C deficiency,
      antiphospholipid syndrome, antithrombin-III deficiency
    explanation: >-
      This review lists factor V Leiden among hypercoagulability disorders that
      cause primary Budd-Chiari syndrome.
phenotypes:
- name: Ascites
  category: Hepatic
  frequency: COMMON
  phenotype_term:
    preferred_term: Ascites
    term:
      id: HP:0001541
      label: Ascites
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The typical and most common form of clinical presentation of BCS is the
      chronic one, with a slow-onset pain in the right upper abdomen, jaundice
      (not always present in chronic form), hepatosplenomegaly, progressive
      abdominal swelling/stretching (due to ascites), haematemesis (due to
      esophageal varices caused by portal hypertension);
    explanation: >-
      The clinical review explicitly lists ascites-related abdominal distension
      as part of common chronic Budd-Chiari presentation.
- name: Abdominal Pain
  category: Gastrointestinal
  frequency: COMMON
  phenotype_term:
    preferred_term: Abdominal pain
    term:
      id: HP:0002027
      label: Abdominal pain
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The typical and most common form of clinical presentation of BCS is the
      chronic one, with a slow-onset pain in the right upper abdomen, jaundice
      (not always present in chronic form), hepatosplenomegaly, progressive
      abdominal swelling/stretching (due to ascites), haematemesis (due to
      esophageal varices caused by portal hypertension);
    explanation: >-
      This supports right upper abdominal pain as a common clinical manifestation.
- name: Hepatomegaly
  category: Hepatic
  frequency: COMMON
  phenotype_term:
    preferred_term: Hepatomegaly
    term:
      id: HP:0002240
      label: Hepatomegaly
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The typical and most common form of clinical presentation of BCS is the
      chronic one, with a slow-onset pain in the right upper abdomen, jaundice
      (not always present in chronic form), hepatosplenomegaly, progressive
      abdominal swelling/stretching (due to ascites), haematemesis (due to
      esophageal varices caused by portal hypertension);
    explanation: >-
      The quoted presentation includes hepatosplenomegaly, supporting liver
      enlargement as part of the phenotype.
- name: Splenomegaly
  category: Hepatic
  frequency: COMMON
  phenotype_term:
    preferred_term: Splenomegaly
    term:
      id: HP:0001744
      label: Splenomegaly
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The typical and most common form of clinical presentation of BCS is the
      chronic one, with a slow-onset pain in the right upper abdomen, jaundice
      (not always present in chronic form), hepatosplenomegaly, progressive
      abdominal swelling/stretching (due to ascites), haematemesis (due to
      esophageal varices caused by portal hypertension);
    explanation: >-
      The common chronic Budd-Chiari presentation includes hepatosplenomegaly,
      supporting splenic enlargement as a common phenotype.
- name: Renal Impairment
  category: Renal
  frequency: COMMON
  phenotype_term:
    preferred_term: Renal insufficiency
    term:
      id: HP:0000083
      label: Renal insufficiency
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      50% of patients can manifest renal impairment[31-33].
    explanation: >-
      The review reports renal impairment in half of patients with chronic
      Budd-Chiari syndrome, supporting common renal involvement.
- name: Portal Hypertension
  category: Hepatic
  frequency: COMMON
  phenotype_term:
    preferred_term: Portal hypertension
    term:
      id: HP:0001409
      label: Portal hypertension
  evidence:
  - reference: PMID:23868034
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      A therapeutic strategy has been proposed where anticoagulation, correction
      of risk factors, diuretics and prophylaxis for portal hypertension are used
      first; then angioplasty for shortlength venous stenosis; then Transjugular
      Intrahepatic Portosystemic Shunt (TIPS); and ultimately liver transplantation.
    explanation: >-
      The management review identifies portal hypertension as a disease
      consequence requiring prophylaxis.
- name: Jaundice
  category: Hepatic
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Jaundice
    term:
      id: HP:0000952
      label: Jaundice
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The typical and most common form of clinical presentation of BCS is the
      chronic one, with a slow-onset pain in the right upper abdomen, jaundice
      (not always present in chronic form), hepatosplenomegaly, progressive
      abdominal swelling/stretching (due to ascites), haematemesis (due to
      esophageal varices caused by portal hypertension);
    explanation: >-
      Jaundice is explicitly listed in the common chronic presentation, with the
      caveat that it is not always present.
- name: Esophageal Varices
  category: Gastrointestinal
  frequency: COMMON
  phenotype_term:
    preferred_term: Esophageal varices
    term:
      id: HP:0002040
      label: Esophageal varix
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The typical and most common form of clinical presentation of BCS is the
      chronic one, with a slow-onset pain in the right upper abdomen, jaundice
      (not always present in chronic form), hepatosplenomegaly, progressive
      abdominal swelling/stretching (due to ascites), haematemesis (due to
      esophageal varices caused by portal hypertension);
    explanation: >-
      The review links portal hypertension to esophageal varices and
      haematemesis in chronic Budd-Chiari syndrome.
diagnosis:
- name: Hepatic venous outflow imaging
  description: >-
    Doppler ultrasound, CT, or MRI can noninvasively demonstrate the hepatic
    venous or inferior vena cava obstruction and collateral consequences that
    establish the diagnosis.
  diagnosis_term:
    preferred_term: diagnostic imaging
  results: >-
    Demonstration of hepatic venous outflow tract obstruction supports
    Budd-Chiari syndrome.
  evidence:
  - reference: PMID:19012988
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Doppler-ultrasound, computed tomography or magnetic resonance imaging of
      hepatic veins and inferior vena cava are usually successful in
      demonstrating non-invasively the obstacle or its consequences, the
      collaterals to hepatic veins or inferior vena cava.
    explanation: >-
      This supports noninvasive imaging of hepatic veins and inferior vena cava
      for diagnosis.
treatments:
- name: Anticoagulation
  description: >-
    Anticoagulation is used to limit thrombus propagation and recurrent venous
    thrombosis when not contraindicated.
  treatment_term:
    preferred_term: anticoagulant therapy
    term:
      id: MAXO:0000178
      label: anticoagulant agent therapy
    therapeutic_agent:
    - preferred_term: warfarin
      term:
        id: CHEBI:10033
        label: warfarin
    - preferred_term: heparin
      term:
        id: CHEBI:28304
        label: heparin
  evidence:
  - reference: PMID:23868034
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      A therapeutic strategy has been proposed where anticoagulation, correction
      of risk factors, diuretics and prophylaxis for portal hypertension are used
      first; then angioplasty for shortlength venous stenosis; then Transjugular
      Intrahepatic Portosystemic Shunt (TIPS); and ultimately liver transplantation.
    explanation: >-
      This source places anticoagulation at the start of the stepwise treatment
      strategy for Budd-Chiari syndrome.
- name: Transjugular Intrahepatic Portosystemic Shunt
  description: >-
    TIPS can decompress portal hypertension and restore effective hepatic
    outflow in selected patients.
  treatment_term:
    preferred_term: transjugular intrahepatic portosystemic shunt
    term:
      id: NCIT:C126288
      label: Transjugular Intrahepatic Portosystemic Shunt
  target_mechanisms:
  - target: Portal Hypertension and Congestive Liver Injury
    treatment_effect: MODULATES
    description: >-
      TIPS decompresses portal hypertension and improves hepatic sinusoidal
      perfusion despite persistent venous outflow obstruction.
  evidence:
  - reference: PMID:32982109
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      TIPS is today considered a safe and highly effective treatment and should
      be recommended for BCS patients, including those awaiting orthotopic liver
      transplantation.
    explanation: >-
      The review supports TIPS as an effective treatment option for selected
      Budd-Chiari syndrome patients.
- name: Angioplasty for Short Venous Stenosis
  description: >-
    Angioplasty is used in the stepwise strategy when short hepatic venous or
    inferior vena cava stenoses are anatomically suitable for recanalization.
  treatment_term:
    preferred_term: angioplasty
    term:
      id: NCIT:C51999
      label: Angioplasty
  target_mechanisms:
  - target: Hepatic Venous Outflow Obstruction
    treatment_effect: RESTORES
    description: >-
      Recanalization relieves focal venous outflow obstruction.
  evidence:
  - reference: PMID:19012988
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      A therapeutic strategy has been proposed where anticoagulation, correction
      of risk factors, diuretics and prophylaxis for portal hypertension are
      used first; then angioplasty for short-length venous stenoses; then TIPS;
      and ultimately liver transplantation.
    explanation: >-
      The review places angioplasty after first-line medical therapy for short
      venous stenoses.
- name: Liver Transplantation
  description: >-
    Liver transplantation is reserved for refractory or advanced Budd-Chiari
    syndrome when medical and endovascular strategies fail or liver failure is
    advanced.
  treatment_term:
    preferred_term: liver transplantation
    term:
      id: MAXO:0001175
      label: liver transplantation
  target_mechanisms:
  - target: Congestive Hepatic Fibrosis
    treatment_effect: BYPASSES
    description: >-
      Transplantation replaces the failing congested and fibrotic liver when
      other therapies are insufficient.
  evidence:
  - reference: PMID:23868034
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      A therapeutic strategy has been proposed where anticoagulation, correction
      of risk factors, diuretics and prophylaxis for portal hypertension are used
      first; then angioplasty for shortlength venous stenosis; then
      Transjugular Intrahepatic Portosystemic Shunt (TIPS); and ultimately
      liver transplantation.
    explanation: >-
      This stepwise management review places liver transplantation as the final
      option after medical therapy, angioplasty, and TIPS.

📚

References & Deep Research

Deep Research

Falcon ▸

Budd–Chiari Syndrome (BCS) — Disease Characteristics Research Report

Edison Scientific Literature 53 citations 2026-05-06T08:28:10.693976

Budd–Chiari Syndrome (BCS) — Disease Characteristics Research Report

Executive summary

Budd–Chiari syndrome (BCS) is hepatic venous outflow tract obstruction (HVOTO) causing hepatic congestion, portal hypertension, and progressive fibrosis/cirrhosis, defined in the absence of right heart failure or constrictive pericarditis. It is rare (typically ~0.35–0.8 cases per million per year in Europe) but clinically high impact; most patients have an underlying prothrombotic condition—especially myeloproliferative neoplasms (MPN) with JAK2 V617F—and contemporary management relies on anticoagulation plus endovascular restoration/decompression (angioplasty/stent or TIPS), with transplantation reserved for refractory/advanced disease. (valla2018budd–chiarisyndromehepaticvenous pages 1-2, ollivierhourmand2018theepidemiologyof pages 1-2)

1. Disease information

1.1 Definition and overview (current understanding)

Definition: BCS is partial or complete impairment/obstruction of hepatic venous drainage/outflow (from small hepatic venules to the IVC/right atrium), excluding obstruction due to right-sided heart failure or constrictive pericarditis. (porrello2023buddchiarisyndromeimaging pages 1-2, valla2018budd–chiarisyndromehepaticvenous pages 1-2)
Synonyms / alternative names:
Hepatic venous outflow tract obstruction (HVOTO) (valla2018budd–chiarisyndromehepaticvenous pages 1-2)
Hepatic vein thrombosis (commonly used clinically; BCS is a form of hepatic venous thrombosis) (valla2018budd–chiarisyndromehepaticvenous pages 1-2)
Classification (etiologic):
Primary BCS: obstruction from thrombosis (or evolution to fibrotic stenosis) within hepatic veins/IVC. (porrello2023buddchiarisyndromeimaging pages 1-2, valla2018budd–chiarisyndromehepaticvenous pages 1-2)
Secondary BCS: obstruction from external compression or tumor invasion/encasement. (porrello2023buddchiarisyndromeimaging pages 1-2, valla2018budd–chiarisyndromehepaticvenous pages 1-2)

1.2 Key identifiers/codes (from retrieved sources)

ICD-10: I82.0 used for BCS case ascertainment in French national hospital discharge data. (ollivierhourmand2018theepidemiologyof pages 2-3)
MeSH / OMIM / Orphanet / MONDO: Not directly extractable from the retrieved texts in this run; therefore not reported here.

1.3 Evidence source type

Most information in this report comes from aggregated disease-level resources (systematic reviews, national cohorts, guidelines) plus selected case reports for rarer etiologies and prevention messaging. (porrello2023buddchiarisyndromeimaging pages 1-2, ollivierhourmand2018theepidemiologyof pages 1-2, joueidi2024transjugularintrahepaticportosystemic pages 1-2)

2. Etiology

2.1 Disease causal factors (mechanistic categories)

Core causal mechanism: hepatic venous outflow obstruction → hepatic sinusoidal congestion → hepatocyte injury/necrosis → fibrosis and portal hypertension. (rossle2024fibrosisprogressionina pages 1-2, porrello2023buddchiarisyndromeimaging pages 1-2)
Primary BCS is predominantly thrombotic, driven by systemic or local prothrombotic states. (valla2018budd–chiarisyndromehepaticvenous pages 1-2, valla2018budd–chiarisyndromehepaticvenous pages 2-4)
Secondary BCS results from invasion/compression by benign or malignant lesions (rare, reported as <1% in one review). (porrello2023buddchiarisyndromeimaging pages 1-2)

2.2 Risk factors (with quantitative data where available)

2.2.1 MPN and somatic mutations (JAK2/CALR/MPL)

MPN frequency (France, liver-unit cohort): MPN in 72/151 (47.7%). (ollivierhourmand2018theepidemiologyof pages 3-5)
JAK2 V617F frequency (France cohort): detected in 55/139 tested. (ollivierhourmand2018theepidemiologyof pages 3-5)
Europe vs China heterogeneity (review): a table in Valla 2018 summarizes markedly higher JAK2-V617F-positive MPN prevalence in European BCS (~40%) than in China (~2%). (valla2018budd–chiarisyndromehepaticvenous pages 2-4)
CALR mutations in BCS/PVT (multinational cohort): CALR mutation 0.7% (1/141) overall; enriched among JAK2-negative MPN (1/11; 9.1%). (plompen2015somaticcalreticulinmutations pages 1-2)
Expert synthesis (2024 molecular review): MPNs are emphasized as major causes of unusual-site thrombosis including BCS, and JAK2 V617F screening is recommended early in SVT work-up. (morsia2024exploringthemolecular pages 1-2)

2.2.2 Inherited thrombophilias and APS/PNH/Behçet

France (liver units): factor V Leiden 19/120 (15.8%); PNH 8.9%; Behçet 5.9%. (ollivierhourmand2018theepidemiologyof pages 5-6, ollivierhourmand2018theepidemiologyof pages 1-2)
Valla 2018 (Europe vs China table): heterozygous factor V Leiden ~20% in Europe vs ~0% in China; antiphospholipid syndrome ~15% Europe vs ~2% China; PNH ~2% Europe vs <1% China. (valla2018budd–chiarisyndromehepaticvenous pages 2-4)
Chinese SVT cohort (Fan 2020): among BCS patients, MPN 6.3% (lower than Western cohorts), APS ~7%, and natural anticoagulant deficiencies combined ~22–26%; FVL/prothrombin G20210A/PNH were rare (<1%). (fan2020prevalenceofprothrombotic pages 1-2)

2.2.3 Hormonal and reproductive factors

France cohort (women of child-bearing age): recent oral contraceptive use 36 (35.0%). (ollivierhourmand2018theepidemiologyof pages 5-5)
Valla 2009 (primary BCS expert review): explicitly recommends stopping oral contraceptives and other hormonal therapy as part of management/risk reduction. (valla2009primarybuddchiarisyndrome. pages 6-7)

2.2.4 Local inflammatory/mechanical factors and secondary causes

France discharge database: among primary BCS incident cases, local factors were prominent in coding (e.g., 38.3% local factors among those with risk-factor ICD-10 codes), highlighting potential differences between referral-cohort phenotyping and administrative coding. (ollivierhourmand2018theepidemiologyof pages 5-5)
Secondary BCS example: extraluminal compression from a hydatid cyst is described as a rare but fatal cause in an endemic-area case report. (ollivierhourmand2018theepidemiologyof pages 3-5)

2.3 Protective factors

No specific genetic protective variants were identified in the retrieved texts. Protective/mitigating factors are mainly treatment-based (anticoagulation, cytoreduction, restoration of outflow). (magaz2020buddchiarisyndromeanticoagulation pages 1-2, martens2015buddchiarisyndrome pages 5-7)

2.4 Gene–environment interactions

BCS frequently reflects interaction of inherited/acquired thrombophilia with environmental/hormonal exposures, exemplified by oral contraceptives in patients with clonal MPN thrombophilia (JAK2 V617F) or combined thrombophilic defects. (karns2024a27yearoldfemale pages 1-2, valla2009primarybuddchiarisyndrome. pages 6-7)

3. Phenotypes

3.1 Clinical phenotypes and frequencies

BCS can be acute, subacute/chronic, asymptomatic, or fulminant. (porrello2023buddchiarisyndromeimaging pages 1-2)

Common presenting features (France 2010 cohort): - Ascites 122/164 (74.4%) - Hepatomegaly 115/164 (70.1%) - Abdominal pain 113/156 (72.4%) - Esophageal varices 74/135 (54.8%) - Splenomegaly 78/159 (49.1%) - Jaundice 27/133 (20.3%) (ollivierhourmand2018theepidemiologyof pages 2-3)

From imaging review (Porrello 2023): ascites 62–85%, hepatomegaly ~67%, pain ~61%, varices ~58%, GI bleeding 5–21%; concomitant portal vein thrombosis ~10–15% (worse prognosis). (porrello2023buddchiarisyndromeimaging pages 2-3)

3.2 Laboratory abnormalities

BCS can present with normal liver tests, but AST/ALT can rise markedly in acute/fulminant disease; ascites often has a portal-hypertension pattern (e.g., SAAG ≥1.1 g/dL noted as supportive in one review). (goel2015budd–chiarisyndromeinvestigation pages 1-2)

3.3 Complications and quality-of-life impact

Portal hypertension complications (varices/bleeding, refractory ascites) are major morbidity drivers. (porrello2023buddchiarisyndromeimaging pages 2-3, rossle2023interventionaltreatmentof pages 13-14)
BCS can cause acute liver failure; a case report notes BCS accounts for <1% of acute liver failure presentations. (craciun2024tipswitha pages 1-2)

3.4 Suggested HPO terms (examples)

Ascites — HP:0001541 (supported by high frequency) (ollivierhourmand2018theepidemiologyof pages 2-3)
Hepatomegaly — HP:0002240 (ollivierhourmand2018theepidemiologyof pages 2-3)
Abdominal pain — HP:0002027 (ollivierhourmand2018theepidemiologyof pages 2-3)
Esophageal varices — HP:0002040 (ollivierhourmand2018theepidemiologyof pages 2-3)
Splenomegaly — HP:0001744 (ollivierhourmand2018theepidemiologyof pages 2-3)
Jaundice — HP:0000952 (ollivierhourmand2018theepidemiologyof pages 2-3)
Portal hypertension — HP:0002579 (porrello2023buddchiarisyndromeimaging pages 2-3)
Hepatic vein thrombosis — HP:0012372 (concept supported by HV outflow obstruction definition) (valla2018budd–chiarisyndromehepaticvenous pages 1-2)

4. Genetic / molecular information

4.1 Causal genes (risk/etiology genes rather than single-gene “causal disease”)

BCS is not classically monogenic; it is a complex thrombotic phenotype with strong association to clonal hematopoiesis and thrombophilia genes.

Key genes/molecular drivers in relevant etiologies: - JAK2 (somatic V617F mutation) in MPN-associated BCS (ollivierhourmand2018theepidemiologyof pages 3-5, valla2018budd–chiarisyndromehepaticvenous pages 2-4) - CALR (somatic frameshift mutations) uncommon but present in a minority of JAK2-negative MPN-SVT (plompen2015somaticcalreticulinmutations pages 1-2) - MPL (MPN driver; mentioned as relevant in BCS work-up) (valla2018budd–chiarisyndromehepaticvenous pages 2-4)

4.2 Pathogenic variants / prothrombotic variants

Factor V Leiden (F5): 12–31% reported in European cohorts; table summary ~20%. (valla2018budd–chiarisyndromehepaticvenous pages 2-4)
Prothrombin G20210A (F2): table ~7% Europe vs 0% China. (valla2018budd–chiarisyndromehepaticvenous pages 2-4)
Antiphospholipid syndrome: ~15% in Europe (table). (valla2018budd–chiarisyndromehepaticvenous pages 2-4)

Variant-level nomenclature and allele frequencies in population databases (gnomAD) were not available in retrieved sources.

4.3 Somatic vs germline

MPN drivers (JAK2, CALR, MPL) are somatic in the hematopoietic compartment; inherited thrombophilias (F5 Leiden, F2 G20210A) are germline. (plompen2015somaticcalreticulinmutations pages 1-2, valla2018budd–chiarisyndromehepaticvenous pages 2-4)

5. Environmental information

Environmental/lifestyle triggers are primarily hormonal exposure (estrogen-containing oral contraceptives) and pregnancy/puerperium as prothrombotic states. (ollivierhourmand2018theepidemiologyof pages 5-5, valla2009primarybuddchiarisyndrome. pages 6-7)

Infectious agents are not typical primary causes, but secondary BCS can arise from space-occupying lesions (e.g., hydatid cyst) in endemic areas. (ollivierhourmand2018theepidemiologyof pages 3-5)

6. Mechanism / pathophysiology

6.1 Causal chain

1) Trigger: systemic thrombophilia (e.g., MPN/JAK2, APS, inherited thrombophilia) or secondary compression/invasion. (valla2018budd–chiarisyndromehepaticvenous pages 2-4, porrello2023buddchiarisyndromeimaging pages 1-2) 2) Vascular event: hepatic vein/IVC obstruction and thrombosis. (valla2018budd–chiarisyndromehepaticvenous pages 1-2) 3) Hemodynamic consequence: sinusoidal congestion and increased sinusoidal pressure → portal hypertension and collateral formation. (porrello2023buddchiarisyndromeimaging pages 1-2, rossle2024fibrosisprogressionina pages 1-2) 4) Tissue injury: congestion-related hepatocyte hypoxia/necrosis; evolving fibrosis/cirrhosis; regenerative nodules. (rossle2024fibrosisprogressionina pages 1-2, porrello2023buddchiarisyndromeimaging pages 3-5) 5) Clinical manifestations: ascites, hepatomegaly, pain, varices/bleeding; in severe cases acute liver failure. (ollivierhourmand2018theepidemiologyof pages 2-3, craciun2024tipswitha pages 1-2)

6.2 Molecular/cellular processes (suggested GO / CL)

GO biological processes (suggested):
blood coagulation (GO:0007596)
platelet activation (GO:0030168)
inflammatory response (GO:0006954)
response to hypoxia (GO:0001666)
extracellular matrix organization / fibrosis (GO:0030198)
Cell types (CL suggestions):
vascular endothelial cell (CL:0000115)
hepatocyte (CL:0000182)
hepatic stellate cell (CL:0000632)
megakaryocyte (CL:0000554) / myeloid lineage cells relevant to MPN (valla2018budd–chiarisyndromehepaticvenous pages 2-4)

6.3 Epigenetics / multi-omics

No BCS-specific epigenomic or multi-omic signatures were available in the retrieved evidence set.

7. Anatomical structures affected

Primary anatomical site: hepatic veins and/or suprahepatic IVC (hepatic venous outflow tract). (valla2018budd–chiarisyndromehepaticvenous pages 1-2)
Secondary consequences: liver parenchyma (congestion, necrosis, fibrosis), portal venous system (portal hypertension, collaterals), spleen (congestive splenomegaly). (ollivierhourmand2018theepidemiologyof pages 2-3, porrello2023buddchiarisyndromeimaging pages 2-3)

Suggested UBERON terms (examples): - Liver — UBERON:0002107 - Hepatic vein — UBERON:0001638 - Inferior vena cava — UBERON:0001072 - Portal vein — UBERON:0001616

8. Temporal development

Onset: may be acute, subacute, chronic, or fulminant; chronic/subacute is most common. (porrello2023buddchiarisyndromeimaging pages 1-2)
Progression: congestion can progress to fibrosis/cirrhosis early; in a TIPS-followed cohort most patients had liver stiffness >12 kPa years after diagnosis, suggesting advanced fibrosis commonly persists. (rossle2024fibrosisprogressionina pages 1-2)

9. Inheritance and population

9.1 Epidemiology (quantitative)

Europe incidence: ~0.35–0.8 per million per year (review). (valla2018budd–chiarisyndromehepaticvenous pages 1-2)
France national liver-unit survey (2010): prevalence 4.04 per million, incidence 0.68 per million/year for primary BCS; primary BCS female predominance 68.1%, mean age at diagnosis 40.2 ± 13.9. (ollivierhourmand2018theepidemiologyof pages 1-2, ollivierhourmand2018theepidemiologyof pages 2-3)
France discharge database (2012): incidence 2.17 per million/year for primary BCS (higher than liver-unit estimate). (ollivierhourmand2018theepidemiologyof pages 1-2)

9.2 Demographics

Imaging review notes BCS “most commonly affects women aged 19–49”. (porrello2023buddchiarisyndromeimaging pages 1-2)

9.3 Inheritance patterns

BCS itself is not inherited as a Mendelian disorder; predisposition can arise from germline thrombophilia variants and acquired somatic MPN mutations. (valla2018budd–chiarisyndromehepaticvenous pages 2-4, plompen2015somaticcalreticulinmutations pages 1-2)

10. Diagnostics

10.1 Diagnostic principle

Diagnosis requires radiologic demonstration of hepatic venous outflow obstruction (noninvasive first-line), with biopsy reserved for uncertain/small-vessel disease. (porrello2023buddchiarisyndromeimaging pages 3-5, porrello2023buddchiarisyndromeimaging pages 2-3)

10.2 Imaging tests and performance

First-line: Color Doppler ultrasound (CDUS). (porrello2023buddchiarisyndromeimaging pages 3-5)
Pooled CDUS sensitivity/specificity reported as 89%/68% (meta-analysis cited in Porrello 2023). (porrello2023buddchiarisyndromeimaging pages 3-5)
APASL consensus reports Doppler US 87.5%/85% and CT venography 86.1%/97.3% (as summarized). (shukla2021buddchiarisyndromeconsensus pages 5-6)
CT / MRI: used to confirm diagnosis, map extent, characterize nodules, and plan intervention.
Meta-analysis summary: CT 89%/72%, MRI 93%/55% sensitivity/specificity. (porrello2023buddchiarisyndromeimaging pages 5-8)

10.3 Key imaging signs (with frequencies)

From Porrello 2023 (frequencies across studies): - Splenomegaly 78% - Inhomogeneous parenchyma 76% - Intrahepatic collaterals 73% - Caudate hypertrophy 67% - Ascites 56% - Extrahepatic collaterals 44% (porrello2023buddchiarisyndromeimaging pages 3-5)

Specificity note: a direct US sign plus caudate lobe hypertrophy reported as 100% specificity for BCS. (porrello2023buddchiarisyndromeimaging pages 3-5)

10.4 Biopsy / histopathology

Liver biopsy is indicated in inconclusive/discordant cases or suspected small hepatic vein involvement. (porrello2023buddchiarisyndromeimaging pages 3-5)
Biopsy findings include centrilobular hemorrhage/necrosis and sinusoidal dilatation; sampling variation limits prognostication. (goel2015budd–chiarisyndromeinvestigation pages 1-2, elkilany2022percutaneoustransluminalangioplasty pages 12-13)

10.5 Differential diagnosis

BCS needs differentiation from sinusoidal obstruction syndrome and cardiac/pericardial causes of hepatic congestion. (porrello2023buddchiarisyndromeimaging pages 1-2, ollivierhourmand2018theepidemiologyof pages 2-3)

11. Outcome / prognosis

11.1 Untreated natural history

Natural history is poor; multiple sources emphasize high mortality without treatment (e.g., case series and reviews cite very low long-term survival), but exact untreated survival statistics were not extractable from the retrieved evidence excerpts in this run. One 2024 cohort paper reiterates that untreated BCS has very poor prognosis and cites historical estimates (50% mortality at 2 years; <10% survival at 3 years) within its discussion. (joueidi2024transjugularintrahepaticportosystemic pages 1-2)

11.2 Survival with modern therapy

Interventional management review: reported 5- and 10-year survival ~90% and 80% with contemporary interventional strategies (angioplasty/stent/TIPS) and low complication rates. (rossle2023interventionaltreatmentof pages 1-2)
Covered-stent TIPS cohort (single center, 2010–2022; n=70 TIPS): survival at 1, 3, 5 years: 98.8%, 97.9%, 97.7%. (joueidi2024transjugularintrahepaticportosystemic pages 1-2)

11.3 Prognostic scores (examples of performance)

From a 2022 review summarizing published cutoffs: - Rotterdam 5-year survival: Class I 89%, Class II 74%, Class III 42%. (gavriilidis2022stateofthe pages 3-5) - BCS-TIPSS 1-year OLT-free survival: score <7: 95% vs >7: 12%. (gavriilidis2022stateofthe pages 3-5)

12. Treatment

12.1 Core strategy (stepwise algorithm)

A widely endorsed approach: anticoagulation and management of underlying thrombophilia → endovascular recanalization (angioplasty ± stent) for short lesions → TIPS for decompression if needed → liver transplantation for refractory/advanced disease. (rossle2023interventionaltreatmentof pages 1-2, mukhiya2023survivalandclinical pages 1-2)

Visual evidence (treatment algorithm): (rossle2023interventionaltreatmentof media 5657bdfb)

12.2 Pharmacotherapy

Anticoagulation: recommended for essentially all patients; LMWH initiation and VKA (INR 2–3) are commonly used. (martens2015buddchiarisyndrome pages 5-7, valla2009primarybuddchiarisyndrome. pages 6-7)
DOACs: emerging/used in practice for splanchnic thrombosis, but BCS-specific evidence is limited; not formally approved and caution in APS. (magaz2020buddchiarisyndromeanticoagulation pages 1-2, monaco2023directoralanticoagulants pages 13-14)

12.3 Endovascular and interventional procedures (real-world outcomes)

Angioplasty ± stent (short webs/stenoses): technical success >90%; routine primary stenting reduces restenosis (2% with stent vs 40% without; 3-yr restenosis-free survival 96% vs 60.4%). (rossle2023interventionaltreatmentof pages 1-2)
TIPS: successful in ~95% of patients in experienced hands; PTFE-covered stents improved long-term patency; reported 5- and 10-year survival ~90% and 80% in an interventional review. (rossle2023interventionaltreatmentof pages 1-2)

12.4 Liver transplantation

Reserved for patients who fail/are not candidates for durable endovascular therapy, or with progressive failure/HCC. Post-transplant recurrence of hepatic vein thrombosis can approach ~20% without adequate long-term anticoagulation. (magaz2020buddchiarisyndromeanticoagulation pages 4-5)

12.5 Suggested MAXO terms (examples)

Anticoagulant therapy — MAXO:0000747 (concept)
Percutaneous transluminal angioplasty — MAXO:0001113 (concept)
Vascular stent placement — MAXO:0000958 (concept)
Transjugular intrahepatic portosystemic shunt — MAXO:0000610 (concept)
Liver transplantation — MAXO:0001116 (concept)

(These MAXO IDs are suggested mappings; not provided in the retrieved texts.)

13. Prevention

13.1 Primary prevention (risk-factor modification)

Avoid estrogen-containing oral contraceptives/hormonal therapy in at-risk patients; Valla 2009 explicitly recommends stopping oral contraceptives and hormonal therapy in primary BCS management, and a 2024 case report highlights combined OCPs as contraindicated in JAK2-mutated MPN patients due to thrombosis risk. (valla2009primarybuddchiarisyndrome. pages 6-7, karns2024a27yearoldfemale pages 1-2)
MPN thrombosis prevention: cytoreduction and disease control; one review notes in PV targeting hematocrit <45% reduces major thrombosis risk (evidence imported from PV trials). (magaz2020buddchiarisyndromeanticoagulation pages 1-2)

13.2 Secondary prevention (prevent recurrence/extension)

Prompt, often lifelong anticoagulation when prothrombotic risk cannot be corrected; LMWH then VKA (INR 2–3) is common practice. (martens2015buddchiarisyndrome pages 5-7, valla2009primarybuddchiarisyndrome. pages 6-7)
Variceal screening/prophylaxis before/while anticoagulated to reduce bleeding risk. (khan2019reviewarticlea pages 10-11)

13.3 Tertiary prevention (prevent complications)

Early endovascular restoration/decompression to control portal hypertension, preserve liver function, and reduce complications. (rossle2023interventionaltreatmentof pages 13-14, rossle2023interventionaltreatmentof pages 1-2)

Protective factors beyond these clinical interventions were not identified.

14. Other species / natural disease

Naturally occurring BCS-like hepatic venous outflow obstruction is reported in veterinary contexts: - Dogs: endovascular stent use in three dogs with Budd–Chiari syndrome is reported in the veterinary literature. ()

15. Model organisms

Experimental models exist to study hepatic venous outflow obstruction and mechanisms: - Rat model: BCS model via partial ligation of the IVC with biochemical measures of hypoxia/oxidative stress changes over time. () - Canine model: diffuse hepatic vein obstruction via endovascular occlusion to mimic human BCS. ()

Recent developments (2023–2024 prioritized)

1) Imaging synthesis and meta-analytic performance estimates: Porrello 2023 provides pooled sensitivity/specificity estimates and sign frequencies and highlights the centrality of radiology for diagnosis and surveillance. (Published 2023-07; https://doi.org/10.3390/diagnostics13132256) (porrello2023buddchiarisyndromeimaging pages 3-5, porrello2023buddchiarisyndromeimaging pages 5-8) 2) Interventional outcomes and debate on early intervention: Rössle 2023 argues the conventional step-up algorithm may be “unproven” and supports earlier angioplasty/TIPS, backed by high technical success and survival estimates and the impact of covered stents on patency. (Published 2023-04; https://doi.org/10.3390/diagnostics13081458) (rossle2023interventionaltreatmentof pages 1-2, rossle2023interventionaltreatmentof pages 13-14) 3) Real-world covered-stent TIPS outcomes: A 2024 single-center cohort reports very high 5-year survival (~97.7%) after covered-stent TIPS. (Published 2024-10; https://doi.org/10.3390/jcm13195858) (joueidi2024transjugularintrahepaticportosystemic pages 1-2) 4) Long-term fibrosis tracking after TIPS: 2024 transient elastography follow-up suggests fibrosis is often advanced and may develop early; timing of TIPS did not change stiffness trajectories in that cohort. (Published 2024-02; https://doi.org/10.3390/diagnostics14030344) (rossle2024fibrosisprogressionina pages 1-2)

Current applications and real-world implementation

BCS care is typically concentrated in referral centers that can deliver: (i) rapid imaging confirmation, (ii) multidisciplinary thrombophilia/MPN work-up, (iii) anticoagulation with variceal prophylaxis, and (iv) endovascular expertise for recanalization and TIPS, with transplant backup. (porrello2023buddchiarisyndromeimaging pages 3-5, magaz2020buddchiarisyndromeanticoagulation pages 4-5)

Clinical trials and registries (ClinicalTrials.gov)

NCT06960473 (2025; not yet recruiting): randomized trial IVUS-guided vs DSA-guided intervention; n=260; primary endpoint restenosis at 1–12 months. (NCT06960473 chunk 1)
NCT02201485 (2014; completed): randomized PTA alone vs PTA+stent; n=88; primary endpoint reocclusion over 2 years; secondary endpoints survival/complications/symptom recurrence. (NCT02201485 chunk 1)
NCT05117684 (2021; completed): retrospective comparison of balloon-occluded thrombolysis vs conventional catheter thrombolysis for occluded DIPSS stents; n=33; endpoints include re-stenting, thrombolytic dose, patency at 1 month. (NCT05117684 chunk 1)
NCT05123326 (2021; recruiting): prospective global coagulation assessment in PVT and BCS/HVOTO including genetic testing (JAK2, CALR, FVL) and outcomes up to 3 years. (NCT05123326 chunk 2)
NCT03541057 (VALID registry; Vienna): prospective observational cohort/biobank including BCS; target ~200; primary endpoint time to first hepatic decompensation. (NCT03541057 chunk 1)

Limitations and gaps

Ontology identifiers (MONDO, Orphanet, MeSH IDs) were not captured in the retrieved sources, so this report cannot provide verified values.
Several key “landmark” outcome papers (e.g., Murad et al. Ann Intern Med 2009) were retrieved but not fully mined here for untreated vs treated survival due to time constraints; however, multiple independent sources in this evidence set provide quantitative modern survival and prognostic score performance. (gavriilidis2022stateofthe pages 3-5, rossle2023interventionaltreatmentof pages 1-2)

URLs and publication dates (selected key sources)

Porrello et al. Diagnostics — 2023-07 — https://doi.org/10.3390/diagnostics13132256 (porrello2023buddchiarisyndromeimaging pages 1-2)
Rössle. Diagnostics — 2023-04 — https://doi.org/10.3390/diagnostics13081458 (rossle2023interventionaltreatmentof pages 1-2)
Joueidi et al. J Clin Med — 2024-10 — https://doi.org/10.3390/jcm13195858 (joueidi2024transjugularintrahepaticportosystemic pages 1-2)
Rössle et al. Diagnostics — 2024-02 — https://doi.org/10.3390/diagnostics14030344 (rossle2024fibrosisprogressionina pages 1-2)
Ollivier-Hourmand et al. Dig Liver Dis — 2018-09 — https://doi.org/10.1016/j.dld.2018.04.004 (ollivierhourmand2018theepidemiologyof pages 1-2)
Valla. Hepatology International — 2018-02 — https://doi.org/10.1007/s12072-017-9810-5 (valla2018budd–chiarisyndromehepaticvenous pages 1-2)

References

(valla2018budd–chiarisyndromehepaticvenous pages 1-2): Dominique-Charles Valla. Budd–chiari syndrome/hepatic venous outflow tract obstruction. Hepatology International, 12:168-180, Feb 2018. URL: https://doi.org/10.1007/s12072-017-9810-5, doi:10.1007/s12072-017-9810-5. This article has 172 citations and is from a peer-reviewed journal.
(ollivierhourmand2018theepidemiologyof pages 1-2): Isabelle Ollivier-Hourmand, Manon Allaire, Nathalie Goutte, Rémy Morello, Carine Chagneau-Derrode, Odile Goria, Jerôme Dumortier, Jean Paul Cervoni, Sébastien Dharancy, Nathalie Ganne-Carrié, Christophe Bureau, Nicolas Carbonell, Armand Abergel, Jean Baptiste Nousbaum, Rodolphe Anty, Hélène Barraud, Marie Pierre Ripault, Victor De Ledinghen, Anne Minello, Frédéric Oberti, Sylvie Radenne, Noelle Bendersky, Olivier Farges, Isabelle Archambeaud, Anne Guillygomarc’h, Marie Ecochard, Violaine Ozenne, Marie Noelle Hilleret, Eric Nguyen-Khac, Barbara Dauvois, Jean Marc Perarnau, Pascale Lefilliatre, Jean Jacques Raabe, Michel Doffoel, Jean Philippe Becquart, Eric Saillard, Dominique Valla, Thong Dao, and Aurélie Plessier. The epidemiology of budd-chiari syndrome in france. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 50 9:931-937, Sep 2018. URL: https://doi.org/10.1016/j.dld.2018.04.004, doi:10.1016/j.dld.2018.04.004. This article has 63 citations.
(porrello2023buddchiarisyndromeimaging pages 1-2): Giorgia Porrello, Giuseppe Mamone, and Roberto Miraglia. Budd-chiari syndrome imaging diagnosis: state of the art and future perspectives. Diagnostics, 13:2256, Jul 2023. URL: https://doi.org/10.3390/diagnostics13132256, doi:10.3390/diagnostics13132256. This article has 35 citations.
(ollivierhourmand2018theepidemiologyof pages 2-3): Isabelle Ollivier-Hourmand, Manon Allaire, Nathalie Goutte, Rémy Morello, Carine Chagneau-Derrode, Odile Goria, Jerôme Dumortier, Jean Paul Cervoni, Sébastien Dharancy, Nathalie Ganne-Carrié, Christophe Bureau, Nicolas Carbonell, Armand Abergel, Jean Baptiste Nousbaum, Rodolphe Anty, Hélène Barraud, Marie Pierre Ripault, Victor De Ledinghen, Anne Minello, Frédéric Oberti, Sylvie Radenne, Noelle Bendersky, Olivier Farges, Isabelle Archambeaud, Anne Guillygomarc’h, Marie Ecochard, Violaine Ozenne, Marie Noelle Hilleret, Eric Nguyen-Khac, Barbara Dauvois, Jean Marc Perarnau, Pascale Lefilliatre, Jean Jacques Raabe, Michel Doffoel, Jean Philippe Becquart, Eric Saillard, Dominique Valla, Thong Dao, and Aurélie Plessier. The epidemiology of budd-chiari syndrome in france. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 50 9:931-937, Sep 2018. URL: https://doi.org/10.1016/j.dld.2018.04.004, doi:10.1016/j.dld.2018.04.004. This article has 63 citations.
(joueidi2024transjugularintrahepaticportosystemic pages 1-2): Faisal Joueidi, Amnah Alhanaee, Hamad Alsuhaibani, Ali Albenmousa, Ahmad Joueidi, Ahmed Elhassan, Abdallah Nabeel Nasir, Kris Ann Hervera Marquez, Saad Alghamdi, Waleed Al Hamoudi, Saad Abualganam, Dieter Broering, and Khalid Ibrahim Bzeizi. Transjugular intrahepatic portosystemic shunt for budd–chiari syndrome: a single-centre experience. Journal of Clinical Medicine, 13:5858, Oct 2024. URL: https://doi.org/10.3390/jcm13195858, doi:10.3390/jcm13195858. This article has 0 citations.
(rossle2024fibrosisprogressionina pages 1-2): Martin Rössle, Dominik Bettinger, Lukas Sturm, Marlene Reincke, Robert Thimme, and Michael Schultheiss. Fibrosis progression in patients with budd–chiari syndrome and transjugular intrahepatic portosystemic shunt (tips): a long-term study using transient elastography. Diagnostics, 14:344, Feb 2024. URL: https://doi.org/10.3390/diagnostics14030344, doi:10.3390/diagnostics14030344. This article has 3 citations.
(valla2018budd–chiarisyndromehepaticvenous pages 2-4): Dominique-Charles Valla. Budd–chiari syndrome/hepatic venous outflow tract obstruction. Hepatology International, 12:168-180, Feb 2018. URL: https://doi.org/10.1007/s12072-017-9810-5, doi:10.1007/s12072-017-9810-5. This article has 172 citations and is from a peer-reviewed journal.
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(morsia2024exploringthemolecular pages 1-2): Erika Morsia, Elena Torre, Francesco Martini, Sonia Morè, Antonella Poloni, Attilio Olivieri, and Serena Rupoli. Exploring the molecular aspects of myeloproliferative neoplasms associated with unusual site vein thrombosis: review of the literature and latest insights. International Journal of Molecular Sciences, 25:1524, Jan 2024. URL: https://doi.org/10.3390/ijms25031524, doi:10.3390/ijms25031524. This article has 9 citations.
(ollivierhourmand2018theepidemiologyof pages 5-6): Isabelle Ollivier-Hourmand, Manon Allaire, Nathalie Goutte, Rémy Morello, Carine Chagneau-Derrode, Odile Goria, Jerôme Dumortier, Jean Paul Cervoni, Sébastien Dharancy, Nathalie Ganne-Carrié, Christophe Bureau, Nicolas Carbonell, Armand Abergel, Jean Baptiste Nousbaum, Rodolphe Anty, Hélène Barraud, Marie Pierre Ripault, Victor De Ledinghen, Anne Minello, Frédéric Oberti, Sylvie Radenne, Noelle Bendersky, Olivier Farges, Isabelle Archambeaud, Anne Guillygomarc’h, Marie Ecochard, Violaine Ozenne, Marie Noelle Hilleret, Eric Nguyen-Khac, Barbara Dauvois, Jean Marc Perarnau, Pascale Lefilliatre, Jean Jacques Raabe, Michel Doffoel, Jean Philippe Becquart, Eric Saillard, Dominique Valla, Thong Dao, and Aurélie Plessier. The epidemiology of budd-chiari syndrome in france. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 50 9:931-937, Sep 2018. URL: https://doi.org/10.1016/j.dld.2018.04.004, doi:10.1016/j.dld.2018.04.004. This article has 63 citations.
(fan2020prevalenceofprothrombotic pages 1-2): Jiahao Fan, Qiuhe Wang, Bohan Luo, Hui Chen, Zhengyu Wang, Jing Niu, Jie Yuan, Xulong Yuan, Wei Bai, Chuangye He, Wengang Guo, Kai Li, Zhanxin Yin, Daiming Fan, and Guohong Han. Prevalence of prothrombotic factors in patients with budd–chiari syndrome or non‐cirrhotic nonmalignant portal vein thrombosis: a hospital‐based observational study. Journal of Gastroenterology and Hepatology, 35:1215-1222, Dec 2020. URL: https://doi.org/10.1111/jgh.14925, doi:10.1111/jgh.14925. This article has 28 citations and is from a peer-reviewed journal.
(ollivierhourmand2018theepidemiologyof pages 5-5): Isabelle Ollivier-Hourmand, Manon Allaire, Nathalie Goutte, Rémy Morello, Carine Chagneau-Derrode, Odile Goria, Jerôme Dumortier, Jean Paul Cervoni, Sébastien Dharancy, Nathalie Ganne-Carrié, Christophe Bureau, Nicolas Carbonell, Armand Abergel, Jean Baptiste Nousbaum, Rodolphe Anty, Hélène Barraud, Marie Pierre Ripault, Victor De Ledinghen, Anne Minello, Frédéric Oberti, Sylvie Radenne, Noelle Bendersky, Olivier Farges, Isabelle Archambeaud, Anne Guillygomarc’h, Marie Ecochard, Violaine Ozenne, Marie Noelle Hilleret, Eric Nguyen-Khac, Barbara Dauvois, Jean Marc Perarnau, Pascale Lefilliatre, Jean Jacques Raabe, Michel Doffoel, Jean Philippe Becquart, Eric Saillard, Dominique Valla, Thong Dao, and Aurélie Plessier. The epidemiology of budd-chiari syndrome in france. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 50 9:931-937, Sep 2018. URL: https://doi.org/10.1016/j.dld.2018.04.004, doi:10.1016/j.dld.2018.04.004. This article has 63 citations.
(valla2009primarybuddchiarisyndrome. pages 6-7): Dominique-Charles Valla. Primary budd-chiari syndrome. Journal of hepatology, 50 1:195-203, Jan 2009. URL: https://doi.org/10.1016/j.jhep.2008.10.007, doi:10.1016/j.jhep.2008.10.007. This article has 456 citations and is from a highest quality peer-reviewed journal.
(magaz2020buddchiarisyndromeanticoagulation pages 1-2): Marta Magaz, Guillem Soy, and Juan Carlos García-Pagán. Budd-chiari syndrome: anticoagulation, tips, or transplant. Current Hepatology Reports, pages 1-6, Jun 2020. URL: https://doi.org/10.1007/s11901-020-00528-8, doi:10.1007/s11901-020-00528-8. This article has 4 citations.
(martens2015buddchiarisyndrome pages 5-7): Pieter Martens and Frederik Nevens. Budd-chiari syndrome. United European Gastroenterology Journal, 3:489-500, Dec 2015. URL: https://doi.org/10.1177/2050640615582293, doi:10.1177/2050640615582293. This article has 102 citations and is from a peer-reviewed journal.
(karns2024a27yearoldfemale pages 1-2): John P. Karns, An Nguyen, Nikita Wong, Aisha True-Malhotra, Dennis Smythe, and Raghavendra C Vemulapalli. A 27-year-old female with jak2 mutation: a case of budd-chiari syndrome secondary to prolonged oral contraceptive pill use. Cureus, Jul 2024. URL: https://doi.org/10.7759/cureus.64858, doi:10.7759/cureus.64858. This article has 0 citations.
(porrello2023buddchiarisyndromeimaging pages 2-3): Giorgia Porrello, Giuseppe Mamone, and Roberto Miraglia. Budd-chiari syndrome imaging diagnosis: state of the art and future perspectives. Diagnostics, 13:2256, Jul 2023. URL: https://doi.org/10.3390/diagnostics13132256, doi:10.3390/diagnostics13132256. This article has 35 citations.
(goel2015budd–chiarisyndromeinvestigation pages 1-2): Rishi M Goel, Emma L Johnston, Kamal V Patel, and Terence Wong. Budd–chiari syndrome: investigation, treatment and outcomes. Postgraduate Medical Journal, 91:692-697, Oct 2015. URL: https://doi.org/10.1136/postgradmedj-2015-133402, doi:10.1136/postgradmedj-2015-133402. This article has 54 citations and is from a peer-reviewed journal.
(rossle2023interventionaltreatmentof pages 13-14): Martin Rössle. Interventional treatment of budd–chiari syndrome. Diagnostics, 13:1458, Apr 2023. URL: https://doi.org/10.3390/diagnostics13081458, doi:10.3390/diagnostics13081458. This article has 15 citations.
(craciun2024tipswitha pages 1-2): Rares Craciun, Romeo Chira, Andrada Nemes, Horia Stefanescu, Simona Cocu, and Bogdan Procopet. Tips with a twist � the real life management of a case of budd-chiarirelated acute liver and subsequent multiple organ failure. Current Medical Imaging Formerly Current Medical Imaging Reviews, Oct 2024. URL: https://doi.org/10.2174/1573405620666230908111803, doi:10.2174/1573405620666230908111803. This article has 1 citations.
(porrello2023buddchiarisyndromeimaging pages 3-5): Giorgia Porrello, Giuseppe Mamone, and Roberto Miraglia. Budd-chiari syndrome imaging diagnosis: state of the art and future perspectives. Diagnostics, 13:2256, Jul 2023. URL: https://doi.org/10.3390/diagnostics13132256, doi:10.3390/diagnostics13132256. This article has 35 citations.
(shukla2021buddchiarisyndromeconsensus pages 5-6): Akash Shukla, Ananta Shreshtha, Amar Mukund, Chhagan Bihari, C. E. Eapen, Guohong Han, Hemant Deshmukh, Ian Homer Y. Cua, Cosmas Rinaldi Adithya Lesmana, Mamun Al Meshtab, Masayoshi Kage, Roongruedee Chaiteeraki, Sombat Treeprasertsuk, Suprabhat Giri, Sundeep Punamiya, Valerie Paradis, Xingshun Qi, Yasuhiko Sugawara, Zaigham Abbas, and Shiv Kumar Sarin. Budd-chiari syndrome: consensus guidance of the asian pacific association for the study of the liver (apasl). Hepatology International, 15:531-567, Jun 2021. URL: https://doi.org/10.1007/s12072-021-10189-4, doi:10.1007/s12072-021-10189-4. This article has 116 citations and is from a peer-reviewed journal.
(porrello2023buddchiarisyndromeimaging pages 5-8): Giorgia Porrello, Giuseppe Mamone, and Roberto Miraglia. Budd-chiari syndrome imaging diagnosis: state of the art and future perspectives. Diagnostics, 13:2256, Jul 2023. URL: https://doi.org/10.3390/diagnostics13132256, doi:10.3390/diagnostics13132256. This article has 35 citations.
(elkilany2022percutaneoustransluminalangioplasty pages 12-13): Aboelyazid Elkilany, Mohamed Alwarraky, Timm Denecke, and Dominik Geisel. Percutaneous transluminal angioplasty for symptomatic hepatic vein-type budd-chiari syndrome: feasibility and long-term outcomes. Scientific Reports, Aug 2022. URL: https://doi.org/10.1038/s41598-022-16818-8, doi:10.1038/s41598-022-16818-8. This article has 2 citations and is from a peer-reviewed journal.
(rossle2023interventionaltreatmentof pages 1-2): Martin Rössle. Interventional treatment of budd–chiari syndrome. Diagnostics, 13:1458, Apr 2023. URL: https://doi.org/10.3390/diagnostics13081458, doi:10.3390/diagnostics13081458. This article has 15 citations.
(gavriilidis2022stateofthe pages 3-5): Paschalis Gavriilidis, Gabriele Marangoni, Jawad Ahmad, and Daniel Azoulay. State of the art, current perspectives, and controversies of budd-chiari syndrome: a review. Journal of Clinical Medicine Research, 14:147-157, Apr 2022. URL: https://doi.org/10.14740/jocmr4724, doi:10.14740/jocmr4724. This article has 38 citations.
(mukhiya2023survivalandclinical pages 1-2): Gauri Mukhiya, Dechao Jiao, Xinwei Han, Xueliang Zhou, and Gaurab Pokhrel. Survival and clinical success of endovascular intervention in patients with budd-chiari syndrome: a systematic review. Journal of Clinical Imaging Science, 13:5, Jan 2023. URL: https://doi.org/10.25259/jcis_130_2022, doi:10.25259/jcis_130_2022. This article has 9 citations.
(rossle2023interventionaltreatmentof media 5657bdfb): Martin Rössle. Interventional treatment of budd–chiari syndrome. Diagnostics, 13:1458, Apr 2023. URL: https://doi.org/10.3390/diagnostics13081458, doi:10.3390/diagnostics13081458. This article has 15 citations.
(monaco2023directoralanticoagulants pages 13-14): Giovanni Monaco, Luca Bucherini, Bernardo Stefanini, Fabio Piscaglia, Francesco Giuseppe Foschi, and Luca Ielasi. Direct oral anticoagulants for the treatment of splanchnic vein thrombosis: a state of art. World Journal of Gastroenterology, 29:4962-4974, Sep 2023. URL: https://doi.org/10.3748/wjg.v29.i33.4962, doi:10.3748/wjg.v29.i33.4962. This article has 16 citations.
(magaz2020buddchiarisyndromeanticoagulation pages 4-5): Marta Magaz, Guillem Soy, and Juan Carlos García-Pagán. Budd-chiari syndrome: anticoagulation, tips, or transplant. Current Hepatology Reports, pages 1-6, Jun 2020. URL: https://doi.org/10.1007/s11901-020-00528-8, doi:10.1007/s11901-020-00528-8. This article has 4 citations.
(khan2019reviewarticlea pages 10-11): Faisal Khan, Matthew J. Armstrong, Homoyon Mehrzad, Frederick Chen, Desley Neil, Rachel Brown, Owen Cain, and Dhiraj Tripathi. Review article: a multidisciplinary approach to the diagnosis and management of budd‐chiari syndrome. Alimentary Pharmacology & Therapeutics, 49:840-863, Mar 2019. URL: https://doi.org/10.1111/apt.15149, doi:10.1111/apt.15149. This article has 76 citations and is from a highest quality peer-reviewed journal.
(NCT06960473 chunk 1): A Prospective Study on IVUS and DSA Guidance in the Treatment of Budd-Chiari Syndrome. The Affiliated Hospital of Xuzhou Medical University. 2025. ClinicalTrials.gov Identifier: NCT06960473
(NCT02201485 chunk 1): Guohong Han. Budd-Chiari Syndrome in China: Balloon Angioplasty Alone or Combined With Stent Placement?. Air Force Military Medical University, China. 2014. ClinicalTrials.gov Identifier: NCT02201485
(NCT05117684 chunk 1): To Compare "Balloon Occluded Thrombolysis" With "Conventional Catheter Directed Thrombolysis" in Thrombotically Occluded DIPSS Stent in Patients of Budd- Chiari Syndrome.. Institute of Liver and Biliary Sciences, India. 2021. ClinicalTrials.gov Identifier: NCT05117684
(NCT05123326 chunk 2): Madhumita Premkumar. Global Coagulation Assessment in Portal Vein Thrombosis and Budd-Chiari Syndrome. Post Graduate Institute of Medical Education and Research, Chandigarh. 2021. ClinicalTrials.gov Identifier: NCT05123326
(NCT03541057 chunk 1): Thomas Reiberger. Vienna Vascular Liver Disease Study. Medical University of Vienna. 2017. ClinicalTrials.gov Identifier: NCT03541057

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Budd–Chiari Syndrome (BCS) — Disease Characteristics Research Report

Executive summary

1. Disease information

1.1 Definition and overview (current understanding)

1.2 Key identifiers/codes (from retrieved sources)

1.3 Evidence source type

2. Etiology

2.1 Disease causal factors (mechanistic categories)

2.2 Risk factors (with quantitative data where available)

2.2.1 MPN and somatic mutations (JAK2/CALR/MPL)

2.2.2 Inherited thrombophilias and APS/PNH/Behçet

2.2.3 Hormonal and reproductive factors

2.2.4 Local inflammatory/mechanical factors and secondary causes

2.3 Protective factors

2.4 Gene–environment interactions

3. Phenotypes

3.1 Clinical phenotypes and frequencies

3.2 Laboratory abnormalities

3.3 Complications and quality-of-life impact

3.4 Suggested HPO terms (examples)

4. Genetic / molecular information

4.1 Causal genes (risk/etiology genes rather than single-gene “causal disease”)

4.2 Pathogenic variants / prothrombotic variants

4.3 Somatic vs germline

5. Environmental information

6. Mechanism / pathophysiology

6.1 Causal chain

6.2 Molecular/cellular processes (suggested GO / CL)

6.3 Epigenetics / multi-omics

7. Anatomical structures affected

8. Temporal development

9. Inheritance and population

9.1 Epidemiology (quantitative)

9.2 Demographics

9.3 Inheritance patterns

10. Diagnostics

10.1 Diagnostic principle

10.2 Imaging tests and performance

10.3 Key imaging signs (with frequencies)

10.4 Biopsy / histopathology

10.5 Differential diagnosis

11. Outcome / prognosis

11.1 Untreated natural history

11.2 Survival with modern therapy

11.3 Prognostic scores (examples of performance)

12. Treatment

12.1 Core strategy (stepwise algorithm)

12.2 Pharmacotherapy

12.3 Endovascular and interventional procedures (real-world outcomes)

12.4 Liver transplantation

12.5 Suggested MAXO terms (examples)

13. Prevention

13.1 Primary prevention (risk-factor modification)

13.2 Secondary prevention (prevent recurrence/extension)

13.3 Tertiary prevention (prevent complications)

14. Other species / natural disease

15. Model organisms

Recent developments (2023–2024 prioritized)

Current applications and real-world implementation

Clinical trials and registries (ClinicalTrials.gov)

Limitations and gaps

URLs and publication dates (selected key sources)