H00420
H number H00420
Name Familial partial lipodystrophy (FPL), including the following four diseases:
Kobberling-type lipodystrophy (FPLD1);
Dunnigan-type lipodystrophy (FPLD2);
Dunnigan-like lipodystrophy (FPLD3);
AKT2 associated lipodystrophy
Description Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have been identified in association with FPL. However, it is not yet known how these genes cause the disorder. Besides them, additional loci are likely as many FPL patients do not reveal any mutations in these genes. LMNA mutations may affect nuclear function, and may be involved in apoptosis and premature cell death of adipocytes, thus causing lipodystrophy. PPARG, PLIN1, and AKT2 are regulators of adipocyte differentiation. AKT2 is also involved in postreceptor insulin signaling. Thus, mutations in these three genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown. Recently, novel autosomal recessive causes of partial lipodystrophy were reported.
Category Metabolic disease; Skin and connective tissue disease