Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. [from
OMIM]