Table 1 Main clinical and laboratory characteristics of FPLD subclasses
From: Clinical Utility Gene Card for: Familial partial lipodystrophy
FPLD type (gene involved) | Transmission | Clinical onset of disease | Clinical lipodystrophy | Common signs to all FPLD | Signs of metabolic severity | Possible additional signs |
|---|---|---|---|---|---|---|
FPLD1 (unknown) | Unknown | Childhood or adulthood Only described in women | Lipoatrophy of buttocks and lower limbs Truncal obesity | FPLD1 to 6: Insulin resistance, diabetes, non-alcoholic fatty liver disease, high triglycerides, low HDL-cholesterol | FPLD1 to 5: Acanthosis nigricans, muscular appearance, prominent veins in limbs, acute pancreatitis, high blood pressure ±hyperandrogenism, polycystic ovaries, atherosclerosis, low leptin and adiponectin levels | — |
FPLD2 (LMNA) | Autosomal dominant | Around puberty | Lipoatrophy of buttocks, limbs and trunk Accumulation of cervicofacial subcutaneous and/or intra-abdominal fat Subcutaneous lipomas | Skeletal and cardiac muscular dystrophy and/or premature ageing (mainly in patients with non-Arg482 mutations) | ||
FPLD3 (PPARG) | Autosomal dominant | Adulthood | Lipoatrophy of buttocks and limbs Accumulation of intra-abdominal fat | Very high blood pressure Severe generalized lipoatrophic syndrome with renal insufficiency (one patient described with a biallelic mutation) | ||
FPLD4 (PLIN1) | Autosomal dominant | Childhood or adulthood (five unrelated families described) | Lipoatrophy of buttocks and limbs | — | ||
FPLD5 (CIDEC) | Autosomal recessive | Childhood (one case described) | Lipoatrophy of buttocks and limbs | Ketosis-prone diabetes | ||
FPLD6 (LIPE) | Autosomal recessive | Adulthood (two unrelated families describeds) | Decreased lower-extremity fat Increased visceral fat | — | Muscular dystrophy |
