Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene

Lipatrophic diabetes, also referred to as familial partial lipodystrophy, i s a rare disease that is metabolically characterized by hypertriglyceridemi a and insulin resistance. Affected patients typicality present with regiona l loss of body fat and muscular hypertrophic appearance. Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertrig lyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syn drome. Mutations within the LMNA gene on chromosome 1q21.2 were recently re ported to result in the phenotype of familial partial lipodystrophy. The ge netic trait is autosomal dominant. We identified a family with partial lipo dystrophy carrying the R482W (Arg(482)Trp) missense mutation within LMNA. H ere we present the lipoprotein characteristics in this family in detail. Cl inically, the loss of sc fat and muscular hypertrophy especially of the low er extremities started as early as in childhood. Acanthosis and severe hype rtriglyceridemia developed later in life, followed by diabetes. The charact erization of the lipoprotein subfractions revealed that affected children p resent with hyperlipidemia. The presence and severity of hyperlipidemia see m to be influenced by age, apolipoprotein E genotype, and the coexistence o f diabetes mellitus. In conclusion, dyslipemia is an early and prominent fe ature in the presented lipodystrophic family carrying the R482W mutation wi thin LMNA.