| FPLD subtype | Main gene(s) | Usual inheritance | Typical onset | Hallmark fat distribution | Key metabolic/systemic complications | Quantitative data from available evidence | Main citation IDs |
|---|---|---|---|---|---|---|---|
| FPLD2 (Dunnigan disease) | **LMNA** | Usually autosomal dominant | During or around puberty; sometimes before puberty; later in men in some series | Progressive loss of subcutaneous fat from limbs, buttocks, and trunk with relative accumulation in face, neck/supraclavicular region, mons pubis, and intra-abdominal depots; muscular appearance; prominent veins; “Dunnigan sign” may be present | Insulin resistance, diabetes, hypertriglyceridemia/dyslipidemia, pancreatitis, MASLD/MAFLD, hypertension, early atherosclerotic CVD/arrhythmias, hyperandrogenism/PCOS in women | In Brazilian FPLD cohort, **LMNA accounted for 85.8%** of genetically confirmed cases; overall cohort: diabetes **57.5%**, severe hypertriglyceridemia **34.9%**, pancreatitis **8.5%**, MAFLD **56.6%**, CVD **10.4%**, mortality **3.8%**; in FPLD2 review, diabetes **28–51%** overall, **54% in women vs 17% in men**; dyslipidemia **59–89%**; lipomas about **20%**; lower-limb fat ≤1st percentile on DXA in women had sensitivity **1.0** and specificity **0.995** in one diagnostic study (pqac-00000010, pqac-00000016, pqac-00000018, pqac-00000020, pqac-00000022) | (pqac-00000004, pqac-00000010, pqac-00000016, pqac-00000018, pqac-00000020, pqac-00000022) |
| FPLD3 | **PPARG** | Usually autosomal dominant (loss-of-function) | Early adulthood; mean lipoatrophy onset about **21 y**, diagnosis about **33 y** | Selective fat loss, often less pronounced than FPLD2; typically buttocks/lower limbs with relative accumulation in abdomen/neck | Severe insulin resistance phenotype with hypertriglyceridemia, diabetes, hypertension, PCOS, fatty liver/MASLD | Review of **91 patients / 41 PPARG variants**: hypertriglyceridemia **91.9%**, diabetes **77%**, hypertension **59.5%**, PCOS **58.2%** of women, MASLD **87.5%**; in Brazilian FPLD cohort, **PPARG accounted for 10.4%** of cases and diabetes was reported in about **73%** of PPARG cases (pqac-00000014, pqac-00000023, pqac-00000010, pqac-00000016) | (pqac-00000002, pqac-00000014, pqac-00000016, pqac-00000023, pqac-00000029) |
| FPLD4 | **PLIN1** | Monogenic; inheritance not detailed in provided evidence | Childhood in review-level summary | Partial lipodystrophy; detailed depot pattern not provided in retrieved evidence | Metabolic complications can occur, but subtype-specific profile is not detailed in provided evidence | In Brazilian cohort, **PLIN1 accounted for 2.8% (3/106)** of genetically confirmed FPLD; diabetes reported in **67%** of these few cases, but sample size is very small (pqac-00000010, pqac-00000011) | (pqac-00000001, pqac-00000009, pqac-00000010, pqac-00000011) |
| FPLD5 | **CIDEC** | Autosomal recessive | Childhood in review-level summary | Partial lipodystrophy; specific fat-loss pattern not detailed in provided evidence | Metabolic complications expected in lipodystrophy, but subtype-specific frequencies not available here | No quantitative subtype-specific clinical series retrieved in the provided evidence; gene–subtype association established (pqac-00000001, pqac-00000009, pqac-00000012) | (pqac-00000001, pqac-00000009, pqac-00000012) |
| FPLD6 | **LIPE** | Autosomal recessive / biallelic | Early adulthood in review-level summary | Partial lipodystrophy with distinctive redistribution pattern in reported cases; full canonical depot pattern not well quantified in provided evidence | Metabolic disturbances reported; some cases with distinctive non-LMNA phenotype | Evidence in provided set is limited mainly to case-level data; one reported patient had **homozygous LIPE frameshift p.Val1068GlyfsTer102**; broader frequency estimates unavailable (pqac-00000008, pqac-00000013) | (pqac-00000008, pqac-00000009, pqac-00000012, pqac-00000013) |
| FPLD7 | **CAV1** | Monogenic; inheritance not detailed in provided evidence | Not available from provided evidence | Partial lipodystrophy; detailed depot pattern not provided in retrieved evidence | Limited subtype-specific data in provided evidence | Gene–subtype mapping available, but no quantitative cohort or phenotype-frequency data retrieved (pqac-00000001, pqac-00000009) | (pqac-00000001, pqac-00000009) |
| MFN2-associated partial lipodystrophy | **MFN2** | Not detailed in provided evidence | Not available from provided evidence | Partial lipodystrophy reported in rare cases; specific depot pattern not detailed here | Diabetes/metabolic disease may occur | Brazilian cohort identified **1/106 (0.9%)** with **MFN2**; that single case had diabetes mellitus; broader phenotype/frequency data not available (pqac-00000010, pqac-00000011) | (pqac-00000010, pqac-00000011, pqac-00000012) |


*Table: This table summarizes the major familial partial lipodystrophy subtypes, their genes, onset patterns, fat-distribution phenotypes, and key complications. It highlights where quantitative evidence is available and where current evidence remains limited for rarer subtypes.*