Home / Deep Research / Platelet-Type von Willebrand Disease

Platelet-Type von Willebrand Disease

Platelet-Type von Willebrand Disease (PT‑VWD): Disease Characteristics Research Report

2026-05-09
Falcon MONDO:0008332 Model: Edison Scientific Literature 30 citations

Platelet-Type von Willebrand Disease (PT‑VWD): Disease Characteristics Research Report

Executive summary

Platelet-type von Willebrand disease (PT‑VWD) is a rare autosomal dominant inherited platelet disorder (a VWD mimic) caused by gain-of-function (GoF) variants in GP1BA (GPIbα) that increase platelet binding to von Willebrand factor (VWF), leading to removal of high-molecular-weight (HMW) VWF multimers and sometimes platelet–VWF complexes from circulation, with mucocutaneous bleeding and variable thrombocytopenia/macrothrombocytopenia. It is frequently misdiagnosed as VWD type 2B, and correct discrimination is clinically critical because management differs—platelet transfusion is generally preferred, while therapies that raise VWF (e.g., desmopressin) can worsen thrombocytopenia. (othman12011platelettypevonwillebrand pages 1-2, othman2011platelettypevonwillebrand pages 3-5)

Recent work (2023) expands the pathogenic variant landscape beyond the “classic” C‑terminal disulphide loop region of GPIbα (e.g., new leucine-rich repeat variants such as p.Leu194Phe), reinforcing the need for GP1BA sequencing when the phenotype resembles type 2B VWD. (monteiro2023anewcase pages 1-2)

1. Disease information

1.1 Overview (what is the disease?)

PT‑VWD is an inherited bleeding disorder in which the primary defect lies in the platelet receptor GPIbα (encoded by GP1BA), not in plasma VWF; it produces a VWD-like phenotype with enhanced platelet–VWF interaction, loss of HMW VWF multimers in plasma, and bleeding. (othman2011platelettypevonwillebrand pages 3-5)

Direct abstract quote (definition/pathogenesis): Haematologica’s mechanistic study states PT‑VWD is “characterized by thrombocytopenia with large platelets caused by gain-of-function variants in GP1BA leading to enhanced GPIbα-von Willebrand factor (vWF) interaction.” (bury2019mechanismsofthrombocytopenia pages 1-5)

1.2 Synonyms / alternative names

1.3 Key identifiers (OMIM/Orphanet/ICD/MeSH/MONDO)

The accessible full texts reviewed here did not report OMIM, Orphanet, ICD-10/ICD-11, MeSH, or MONDO identifiers in extractable form. This is an evidence gap for this tool-run corpus and should be filled by consulting OMIM/Orphanet/MONDO directly.

1.4 Evidence source type

Most PT‑VWD evidence is aggregated disease-level from reviews/registries and individual-level from case reports and mechanistic studies, including human megakaryocyte experiments and transgenic mouse models. (othman2016platelettypevon pages 2-3, bury2019mechanismsofthrombocytopenia pages 1-5)

2. Etiology

2.1 Disease causal factors

2.2 Risk factors

2.3 Protective factors

Not specifically identified in the retrieved corpus.

2.4 Gene–environment interactions

No PT‑VWD–specific gene–environment interaction studies were identified in the retrieved corpus; physiologic VWF increases (e.g., pregnancy) may be viewed as an exposure that interacts with GP1BA GoF variants. (othman2011platelettypevonwillebrand pages 3-5)

3. Phenotypes

3.1 Core phenotype spectrum

Bleeding (symptoms/signs): Typically mild-to-moderate mucocutaneous bleeding (epistaxis, post-dental extraction bleeding, postsurgical bleeding), often exacerbated in pregnancy or with aspirin/antiplatelet drugs. (othman12011platelettypevonwillebrand pages 2-3, othman2011platelettypevonwillebrand pages 2-3)

Laboratory abnormalities: - Enhanced ristocetin-induced platelet aggregation/agglutination (enhanced RIPA at low ristocetin). (othman2011platelettypevonwillebrand pages 2-3) - Selective loss of HMW VWF multimers from plasma; discordance between functional and antigen assays (e.g., reduced VWF activity relative to VWF:Ag). (othman2011platelettypevonwillebrand pages 3-5, othman12011platelettypevonwillebrand pages 3-4) - Variable thrombocytopenia; can include platelet clumping and macrothrombocytopenia. (othman2011platelettypevonwillebrand pages 3-5, othman12011platelettypevonwillebrand pages 3-4)

Quantitative example (2023 case report): platelet count range reported 127–161×10^9/L and MPV examples 12–14.2 fL (above referenced normal range). (monteiro2023anewcase pages 2-2)

3.2 Phenotype characteristics (age of onset, severity, progression)

  • Often recognized after hemostatic challenges (e.g., surgery) and may be underrecognized because many patients “do not seek advice unless they have serious bleeds.” (othman12011platelettypevonwillebrand pages 2-3)
  • Severity: commonly mild-to-moderate; registry authors describe “moderate bleeding diathesis.” (othman2016platelettypevon pages 2-3)
  • Course: chronic/lifelong inherited disorder with episodic bleeding around challenges.

3.3 Suggested HPO terms (non-exhaustive)

(Informatic suggestions based on phenotypes explicitly described in the literature) - Epistaxis (HP:0000421) (othman12011platelettypevonwillebrand pages 2-3) - Abnormal bleeding (HP:0001892) - Postoperative hemorrhage (HP:0002783) (othman12011platelettypevonwillebrand pages 2-3) - Menorrhagia (HP:0000132) not directly evidenced in retrieved PT‑VWD texts; common in mucocutaneous bleeding disorders—mark as potential but unconfirmed here - Thrombocytopenia (HP:0001873) (othman12011platelettypevonwillebrand pages 2-3) - Macrothrombocytopenia (HP:0001902) (othman2011platelettypevonwillebrand pages 3-5, monteiro2023anewcase pages 2-2) - Increased mean platelet volume (laboratory phenotype; maps to macrothrombocytopenia context) (monteiro2023anewcase pages 2-2)

3.4 Quality-of-life impact

Not quantified in retrieved corpus; mucocutaneous bleeding and pregnancy/periprocedural planning plausibly impacts daily functioning.

4. Genetic / molecular information

4.1 Causal gene(s)

4.2 Pathogenic variant spectrum (representative)

A 2025 population-genetic prevalence analysis enumerated 9 distinct GP1BA variants previously reported to cause PT‑VWD: p.Arg127Gln, p.Leu194Phe, p.Trp246Leu, p.Gly249Val, p.Gly249Ser, p.Asp251Tyr, p.Met255Val, p.Met255Ile, and p.Thr436_Ala444del. (seidizadeh2025globalprevalenceof pages 3-4)

Older reviews described classic variants such as p.Gly233Val, p.Met239Val, p.Gly233Ser and a 27 bp in-frame deletion. (othman2011platelettypevonwillebrand pages 3-5, othman12011platelettypevonwillebrand pages 2-3)

Recent development (2023): A case report identified a novel/rare GoF variant c.580C>T (p.Leu194Phe) in a leucine-rich repeat of GPIbα, supporting that disease-causing GoF variants can occur outside the classic C‑terminal disulphide loop region. (monteiro2023anewcase pages 1-2)

4.3 Functional consequence

GoF variants increase spontaneous or low-threshold binding of VWF A1 to the GPIbα leucine-rich repeat concavity / regulatory loops, promoting platelet–VWF complex formation and clearance. (othman12011platelettypevonwillebrand pages 3-4, monteiro2023anewcase pages 2-2)

4.4 Modifier genes / epigenetics / chromosomal abnormalities

Not identified in retrieved corpus.

5. Environmental information

PT‑VWD is primarily genetic; key modulating “exposures” include physiologic VWF increases (pregnancy, stress, infection) and medications that affect platelet function (aspirin). (othman12011platelettypevonwillebrand pages 2-3, othman2011platelettypevonwillebrand pages 3-5)

6. Mechanism / pathophysiology

6.1 Causal chain (current understanding)

1) GP1BA GoF variant → hyperresponsive GPIbα with increased affinity for VWF (othman2011platelettypevonwillebrand pages 3-5) 2) Inappropriate platelet–VWF binding (including HMW multimers) → (a) selective depletion of HMW VWF multimers from plasma and reduced platelet-dependent VWF activity; (b) formation of platelet–VWF complexes subject to accelerated clearance (seidizadeh2025globalprevalenceof pages 1-3, bury2019mechanismsofthrombocytopenia pages 1-5) 3) Thrombocytopenia/macrothrombocytopenia arises from combined mechanisms: impaired thrombopoiesis (abnormal proplatelet formation), ectopic platelet release in bone marrow, and increased clearance. (bury2019mechanismsofthrombocytopenia pages 1-5)

6.2 Cellular mechanisms and pathways (primary experimental evidence)

A key mechanistic study using patient-derived megakaryocytes (GP1BA Met239Val) and a transgenic mouse (GPIbα Gly233Val) found: - Early VWF binding during megakaryocyte differentiation and abnormal proplatelet formation with fewer enlarged tips (bury2019mechanismsofthrombocytopenia pages 1-5) - Ectopic proplatelet formation on type I collagen, linked to defective collagen-triggered signaling with impaired RhoA–ROCK–MLC2 axis activation and altered Lyn (SFK)/GPVI-related signaling (bury2019mechanismsofthrombocytopenia pages 1-5) - Increased extravascular platelets in bone marrow and shortened platelet survival; desmopressin-induced VWF rise produced a marked platelet count drop in mutant mice. (bury2019mechanismsofthrombocytopenia pages 1-5)

6.3 Suggested ontology terms

GO biological processes (suggested): - Platelet activation (GO:0030168) - Platelet aggregation (GO:0070527) - Hemostasis (GO:0007599) - Megakaryocyte differentiation (GO:0030219) - Platelet formation / thrombopoiesis (GO:0030218) - Regulation of actin cytoskeleton organization (GO:0032956) (mechanistically relevant to proplatelet formation)

Cell Ontology (CL) terms (suggested): - Megakaryocyte (CL:0000556) (bury2019mechanismsofthrombocytopenia pages 1-5) - Platelet (thrombocyte) (CL:0000233)

7. Anatomical structures affected

UBERON term suggestions: - Bone marrow (UBERON:0002371) - Blood (UBERON:0000178) - Spleen (UBERON:0002106) (mouse splenomegaly reported). (othman2011platelettypevonwillebrand pages 5-6)

8. Temporal development

Typical onset is congenital/inherited, but clinical recognition is often delayed until bleeding challenges. (othman12011platelettypevonwillebrand pages 2-3)

9. Inheritance and population

9.1 Inheritance

Autosomal dominant. (seidizadeh2025globalprevalenceof pages 1-3, othman12011platelettypevonwillebrand pages 2-3)

9.2 Epidemiology and statistics

Case-based counts and registries: - 2011 review: “44 cases (31 females and 13 males) of 18 families” known at that time. (othman12011platelettypevonwillebrand pages 2-3) - ISTH SSC registry/website report (2016): international registry lists 55 cases (17 males, 38 females). (othman2016platelettypevon pages 2-3)

Misdiagnosis: - International registry project analyzing putative type 2B/PT-VWD: 17/110 had GP1BA mutations consistent with PT‑VWD; authors estimate ~15% misdiagnosis rate of PT‑VWD (misdiagnosed as 2B). (othman2016platelettypevon pages 2-2, othman2011platelettypevonwillebrand pages 5-6)

Population-genetic prevalence estimate (gnomAD v4.1): - Estimated global prevalence 136 per 10^6 (2.5 per 10^6 “severe,” 134 per 10^6 “mild”). Highest subgroup estimates: Africans/African Americans 160 per 10^6; Finnish 156 per 10^6; Europeans 149 per 10^6; South Asians 110 per 10^6. (seidizadeh2025globalprevalenceof pages 1-3)

10. Diagnostics

10.1 Key clinical/laboratory tests and diagnostic features

PT‑VWD and type 2B VWD are both characterized by enhanced RIPA, reduced HMW multimers, and often thrombocytopenia—making differentiation challenging. (othman12011platelettypevonwillebrand pages 3-4)

RIPA operationalization and thresholds (real-world implementation): - RIPA performed on PRP (example adjustment to 250×10^9/L) using at least two ristocetin concentrations, typically 1.0 mg/mL (high) and 0.5 mg/mL (low); some centers use low-dose 0.6–0.7 mg/mL or a dose yielding ~30% aggregation. (othman2011platelettypevonwillebrand pages 2-3) - Caveat: some type 2B cases can respond at intermediate low levels (~0.7 mg/mL), so cutoffs overlap. (othman12011platelettypevonwillebrand pages 3-4)

VWF activity/antigen ratio guidance: - ISTH SSC communication notes VWF:RCo/VWF:Ag ratio <0.6 as part of the PT‑VWD laboratory picture (with enhanced RIPA and HMW multimer loss). (othman2016platelettypevon pages 1-2)

10.2 Specialized discrimination tests (PT‑VWD vs type 2B)

10.3 Genetic testing

Definitive discrimination relies on genetics: - GP1BA mutation supports PT‑VWD; VWF A1 domain (often exon 28) mutation supports type 2B VWD. (othman2011platelettypevonwillebrand pages 2-3) - 2011 review explicitly describes GP1BA sequencing as the “gold standard” definitive test. (othman12011platelettypevonwillebrand pages 3-4)

10.4 Differential diagnosis (selected)

11. Outcome / prognosis

11.1 Prognosis and complications

The retrieved corpus supports generally mild-to-moderate bleeding but does not provide quantitative mortality/survival or long-term disability measures. (othman2016platelettypevon pages 2-3)

11.2 Evidence gaps

Registry authors emphasize limited systematic data for special situations (e.g., pregnancy) and limited comprehensive longitudinal outcomes. (othman2016platelettypevon pages 3-3)

12. Treatment

12.1 Core management principle

Because PT‑VWD is driven by excessive platelet–VWF binding, therapies that raise circulating VWF can worsen thrombocytopenia, so treatment differs from type 2B VWD. (othman2011platelettypevonwillebrand pages 3-5, dorgalaleh2025precisionmedicinein pages 2-3)

12.2 Hemostatic therapies

12.3 Pregnancy/peripartum (real-world implementation)

A pregnancy case report describes multidisciplinary planning with platelet monitoring and peripartum platelet support (two units of platelets before delivery) and notes regional anesthesia contraindication in that case context. (grover2013pseudo(platelettype)von pages 1-2)

12.4 Clinical trials

A ClinicalTrials.gov query (PT‑VWD / pseudo‑VWD) returned a clinical trial record but no clearly relevant interventional trial specific to PT‑VWD in the retrieved results. (tool state; no trial context IDs were produced)

12.5 Suggested MAXO terms (informatic suggestions)

13. Prevention

Primary prevention is not applicable for a Mendelian disorder; secondary/tertiary prevention centers on: - avoiding platelet-affecting drugs when possible (aspirin) (othman12011platelettypevonwillebrand pages 1-2) - accurate molecular diagnosis to avoid harmful treatments (e.g., DDAVP in PT‑VWD) (othman12011platelettypevonwillebrand pages 3-4) - genetic counseling for autosomal dominant inheritance (50% transmission risk referenced in pregnancy case report) (grover2013pseudo(platelettype)von pages 1-2)

14. Other species / natural disease

No naturally occurring veterinary PT‑VWD analogs were identified in the retrieved corpus.

15. Model organisms and model systems

15.1 Mouse models

A transgenic model expressing human GPIbα Gly233Val (G233V) reproduces key PT‑VWD features (enhanced ristocetin-induced aggregation, prolonged bleeding time, splenomegaly and increased splenic megakaryocytes). (othman2011platelettypevonwillebrand pages 5-6)

15.2 Human megakaryocyte models

Patient-derived megakaryocytes (GP1BA Met239Val) demonstrate early VWF binding, abnormal proplatelet formation, and ectopic proplatelet release on collagen with defects in RhoA–MLC2 signaling and altered Lyn phosphorylation. (bury2019mechanismsofthrombocytopenia pages 1-5)

15.3 hiPSC/CRISPR models (2023)

A hiPSC model with engineered GP1BA p.M255V GoF mutation recapitulated macrothrombocytopenia-like platelet production defects and implicated reduced ERK1/2 activation and increased MLC2 phosphorylation; ROCK inhibition rescued phenotypes. (pawinwongchai2023studyofplatelet pages 1-6)

15.4 Model limitations

Species differences in GP1BA/VWF interaction are noted (mouse vs human sequence similarity ~70–75% in VWF-binding region), which may alter translatability. (othman2011platelettypevonwillebrand pages 3-5)

Key quick-reference table

Table (click to expand)
Key concept / definition Causative gene Representative GP1BA gain-of-function variants (protein level) Key distinguishing diagnostic lab features Differential points vs type 2B VWD Treatment implications Citations
Rare autosomal dominant inherited platelet disorder (historically “pseudo-von Willebrand disease”) caused by platelet hyperresponsiveness with excessive GPIbα–VWF binding, producing a VWD-like phenotype with mucocutaneous bleeding and often thrombocytopenia. GP1BA (encodes platelet glycoprotein Ibα, GPIbα) Classic and recent variants reported across evidence include p.Gly233Val, p.Gly233Ser, p.Met239Val (older nomenclature may appear as p.Met255Val), p.Trp246Leu, p.Gly249Val, p.Gly249Ser, p.Asp251Tyr, p.Met255Ile, p.Arg127Gln, p.Leu194Phe, and p.Thr436_Ala444del / 27-bp deletion. Hallmark is enhanced RIPA at low-dose ristocetin (commonly ~0.5 mg/mL; some centers 0.6–0.7 mg/mL), selective loss of high-molecular-weight VWF multimers in plasma, discordantly low platelet-dependent VWF function relative to antigen (e.g., low VWF:RCo/VWF:Ag, often <0.6), with normal/variable FVIII and intermittent thrombocytopenia or macrothrombocytopenia. Phenotype overlaps strongly with type 2B VWD, but PT-VWD is a platelet receptor defect rather than a VWF defect. Discrimination relies on RIPA mixing studies, historically cryoprecipitate challenge, flow-cytometric VWF-binding assays, and especially genetic testing: GP1BA variant confirms PT-VWD, whereas VWF A1-domain variant supports type 2B VWD. Management differs from VWD: desmopressin (DDAVP) or VWF/FVIII concentrates may worsen thrombocytopenia by increasing VWF available for mutant platelet binding; platelet concentrates are generally preferred for major bleeding/procedures. Pregnancy can worsen thrombocytopenia/bleeding as circulating VWF rises; multidisciplinary obstetric planning and platelet support may be needed. (othman12011platelettypevonwillebrand pages 1-2, othman12011platelettypevonwillebrand pages 2-3, othman2011platelettypevonwillebrand pages 2-3, othman2011platelettypevonwillebrand pages 3-5, othman2016platelettypevon pages 1-2, bury2019mechanismsofthrombocytopenia pages 1-5, othman12011platelettypevonwillebrand pages 3-4, seidizadeh2025globalprevalenceof pages 3-4, monteiro2023anewcase pages 2-2, monteiro2023anewcase pages 1-2, othman2016platelettypevon pages 2-3)

Table: This table condenses the core disease concept, genetic basis, representative GP1BA variants, distinguishing diagnostic findings, differential diagnosis against type 2B VWD, and key management implications for platelet-type von Willebrand disease. It is useful as a quick-reference artifact for clinical and knowledge-base curation.

Visual evidence (variant table)

The ISTH SSC communication includes a table of GP1BA variants and registered PT‑VWD cases (Table 1), useful for curation of historical variant–case mappings. (othman2016platelettypevon media 05132cc9)

Expert opinion and consensus (as supported in retrieved sources)

URLs and publication dates (key sources)

Notes on missing items relative to template

  • Formal ontology/registry identifiers (OMIM/Orphanet/MONDO/MeSH/ICD) were not extractable from the retrieved papers and should be completed by direct database lookups.
  • Quantitative phenotype frequencies (percentages of specific bleeding manifestations) and validated QoL instruments (SF‑36/EQ‑5D) were not found in the retrieved corpus.
  • PT‑VWD-specific clinical practice guidelines from 2023–2024 were not retrieved; most guidance is from expert reviews/SSC communications plus mechanistic data and case reports.

References

  1. (othman12011platelettypevonwillebrand pages 1-2): Maha Othman1. Platelet-type von willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder. Semin Thromb Hemost, 37:464-469, Jul 2011. URL: https://doi.org/10.1055/s-0031-1281030, doi:10.1055/s-0031-1281030. This article has 66 citations.

  2. (othman2011platelettypevonwillebrand pages 3-5): Maha Othman. Platelet-type von willebrand disease: three decades in the life of a rare bleeding disorder. Blood reviews, 25 4:147-53, Jul 2011. URL: https://doi.org/10.1016/j.blre.2011.03.003, doi:10.1016/j.blre.2011.03.003. This article has 60 citations and is from a peer-reviewed journal.

  3. (monteiro2023anewcase pages 1-2): Catarina Monteiro, Ana Gonçalves, Mónica Pereira, Catarina Lau, Sara Morais, and Rosário Santos. A new case of platelet‐type von willebrand disease supports the recent findings of gain‐of‐function gp1ba variants outside the c‐terminal disulphide loop enhances affinity for von willebrand factor. British Journal of Haematology, 203:673-677, Aug 2023. URL: https://doi.org/10.1111/bjh.19025, doi:10.1111/bjh.19025. This article has 11 citations and is from a domain leading peer-reviewed journal.

  4. (bury2019mechanismsofthrombocytopenia pages 1-5): Loredana Bury, Alessandro Malara, Stefania Momi, Eleonora Petito, Alessandra Balduini, and Paolo Gresele. Mechanisms of thrombocytopenia in platelet-type von willebrand disease. Haematologica, 104:1473-1481, Jan 2019. URL: https://doi.org/10.3324/haematol.2018.200378, doi:10.3324/haematol.2018.200378. This article has 60 citations.

  5. (othman2011platelettypevonwillebrand pages 5-6): Maha Othman. Platelet-type von willebrand disease: three decades in the life of a rare bleeding disorder. Blood reviews, 25 4:147-53, Jul 2011. URL: https://doi.org/10.1016/j.blre.2011.03.003, doi:10.1016/j.blre.2011.03.003. This article has 60 citations and is from a peer-reviewed journal.

  6. (othman2016platelettypevon pages 2-3): Maha Othman, Maha Othman, Harmanpreet Kaur, E. J. Favaloro, D. Lillicrap, J. D. Paola, Paul J. Harrison, and P. Gresele. Platelet type von willebrand disease and registry report: communication from the ssc of the isth. Journal of Thrombosis and Haemostasis, 14:4-411, Feb 2016. URL: https://doi.org/10.1111/jth.13204, doi:10.1111/jth.13204. This article has 34 citations and is from a peer-reviewed journal.

  7. (othman12011platelettypevonwillebrand pages 2-3): Maha Othman1. Platelet-type von willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder. Semin Thromb Hemost, 37:464-469, Jul 2011. URL: https://doi.org/10.1055/s-0031-1281030, doi:10.1055/s-0031-1281030. This article has 66 citations.

  8. (othman2011platelettypevonwillebrand pages 2-3): Maha Othman. Platelet-type von willebrand disease: three decades in the life of a rare bleeding disorder. Blood reviews, 25 4:147-53, Jul 2011. URL: https://doi.org/10.1016/j.blre.2011.03.003, doi:10.1016/j.blre.2011.03.003. This article has 60 citations and is from a peer-reviewed journal.

  9. (othman12011platelettypevonwillebrand pages 3-4): Maha Othman1. Platelet-type von willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder. Semin Thromb Hemost, 37:464-469, Jul 2011. URL: https://doi.org/10.1055/s-0031-1281030, doi:10.1055/s-0031-1281030. This article has 66 citations.

  10. (monteiro2023anewcase pages 2-2): Catarina Monteiro, Ana Gonçalves, Mónica Pereira, Catarina Lau, Sara Morais, and Rosário Santos. A new case of platelet‐type von willebrand disease supports the recent findings of gain‐of‐function gp1ba variants outside the c‐terminal disulphide loop enhances affinity for von willebrand factor. British Journal of Haematology, 203:673-677, Aug 2023. URL: https://doi.org/10.1111/bjh.19025, doi:10.1111/bjh.19025. This article has 11 citations and is from a domain leading peer-reviewed journal.

  11. (seidizadeh2025globalprevalenceof pages 3-4): Omid Seidizadeh, Andrea Cairo, Maha Othman, and Flora Peyvandi. Global prevalence of platelet-type von willebrand disease. Research and Practice in Thrombosis and Haemostasis, 9:102682, Jan 2025. URL: https://doi.org/10.1016/j.rpth.2025.102682, doi:10.1016/j.rpth.2025.102682. This article has 12 citations and is from a peer-reviewed journal.

  12. (seidizadeh2025globalprevalenceof pages 1-3): Omid Seidizadeh, Andrea Cairo, Maha Othman, and Flora Peyvandi. Global prevalence of platelet-type von willebrand disease. Research and Practice in Thrombosis and Haemostasis, 9:102682, Jan 2025. URL: https://doi.org/10.1016/j.rpth.2025.102682, doi:10.1016/j.rpth.2025.102682. This article has 12 citations and is from a peer-reviewed journal.

  13. (othman2016platelettypevon pages 2-2): Maha Othman, Maha Othman, Harmanpreet Kaur, E. J. Favaloro, D. Lillicrap, J. D. Paola, Paul J. Harrison, and P. Gresele. Platelet type von willebrand disease and registry report: communication from the ssc of the isth. Journal of Thrombosis and Haemostasis, 14:4-411, Feb 2016. URL: https://doi.org/10.1111/jth.13204, doi:10.1111/jth.13204. This article has 34 citations and is from a peer-reviewed journal.

  14. (othman2016platelettypevon pages 1-2): Maha Othman, Maha Othman, Harmanpreet Kaur, E. J. Favaloro, D. Lillicrap, J. D. Paola, Paul J. Harrison, and P. Gresele. Platelet type von willebrand disease and registry report: communication from the ssc of the isth. Journal of Thrombosis and Haemostasis, 14:4-411, Feb 2016. URL: https://doi.org/10.1111/jth.13204, doi:10.1111/jth.13204. This article has 34 citations and is from a peer-reviewed journal.

  15. (othman2016platelettypevon pages 3-3): Maha Othman, Maha Othman, Harmanpreet Kaur, E. J. Favaloro, D. Lillicrap, J. D. Paola, Paul J. Harrison, and P. Gresele. Platelet type von willebrand disease and registry report: communication from the ssc of the isth. Journal of Thrombosis and Haemostasis, 14:4-411, Feb 2016. URL: https://doi.org/10.1111/jth.13204, doi:10.1111/jth.13204. This article has 34 citations and is from a peer-reviewed journal.

  16. (dorgalaleh2025precisionmedicinein pages 2-3): Akbar Dorgalaleh and Maha Othman. Precision medicine in rare bleeding disorders. Seminars in Thrombosis and Hemostasis, 51:099-102, Dec 2025. URL: https://doi.org/10.1055/s-0044-1800833, doi:10.1055/s-0044-1800833. This article has 2 citations and is from a peer-reviewed journal.

  17. (grover2013pseudo(platelettype)von pages 1-2): Neetu Grover, Vincent Boama, and Munazzah Rifat Chou. Pseudo (platelet-type) von willebrand disease in pregnancy: a case report. BMC Pregnancy and Childbirth, 13:16-16, Jan 2013. URL: https://doi.org/10.1186/1471-2393-13-16, doi:10.1186/1471-2393-13-16. This article has 24 citations and is from a peer-reviewed journal.

  18. (pawinwongchai2023studyofplatelet pages 1-6): Jaturawat Pawinwongchai. Study of platelet production from megakaryocyte by using induced pluripotent stem cell. ArXiv, 2023. URL: https://doi.org/10.58837/chula.the.2020.28, doi:10.58837/chula.the.2020.28. This article has 0 citations.

  19. (othman2016platelettypevon media 05132cc9): Maha Othman, Maha Othman, Harmanpreet Kaur, E. J. Favaloro, D. Lillicrap, J. D. Paola, Paul J. Harrison, and P. Gresele. Platelet type von willebrand disease and registry report: communication from the ssc of the isth. Journal of Thrombosis and Haemostasis, 14:4-411, Feb 2016. URL: https://doi.org/10.1111/jth.13204, doi:10.1111/jth.13204. This article has 34 citations and is from a peer-reviewed journal.

  20. (johnsen2024vonwillebranddisease pages 5-7): J Johnsen. Von willebrand disease. Unknown journal, 2024.