A Report For Partial Lipoatrophy Due To A Heterozygous LMNA R482Q Mutation

The Lipoatrophy are characterized by loss of adipose tissue in subcutane and abnormal adipose tissue distribution, with insulin resistance, dysglycemia, hyperlipoidemia, increased visceral fat, adiposis hepatica, and hypertension. Lipoatrophy can broadly be classified into congenital generalized lipodystrophy (CGL), familial partial lipodystrophy (FPLD), acquired partial lipodystrophy (APL), and acquired generalized lipodystrophy (AGL). It can also appear to be acquired without an obvious hereditary basis, such as in some patients with acquired generalized lipody- strophy (AGL) and in the partial lipodystrophy syndrome that is associated with infection and antiretroviral therapy of human immunodeficiency virus. Familial partial lipodystrophy (FPLD) is autosomal dominant inheritance, and generally characterized by progressive and gradual subcutaneous adipose tissue loss from the extremities, classically commencing in puberty, accompanied by variable adipose tissue loss in the trunk and chest, prominent, well-defined musculature, together with excess fat deposi- tion within the face, neck and visceral fat. Metabolic manifestations of FPLD include hypertriglyceridemia, depressed HDL cholesterol, dysglycemia, acanthosis nigricans, and, among women, hirsutism, polycystic ovary syndrome(PCOS), and menstrual irregularities. FPLD is subdivided into three forms by molecular genetics: FPLD1 (Kobberling type; MIM 608600), FPLD2 (Dunnigan type; MIM 151660), and FPLD3 (MIM 603637). FPLD1 has an unknown molecular basis. FPLD2 results from heterozygous mutations in the LMNA gene encoding nuclear lamin A/C (MIM 150330). FPLD3 results from heterozygous mutations in the PPARγgene (MIM 601487). Here we discovered a patient with partial lipoatrophy that was referred to our hospital due to abnormal menstruation. As the patient presented with hyperlipoidemia, acanthosis nigricans, polycystic ovary syndrome and nonalcoholic steatotic hepatitis, molecular analysis of the LMNA gene was performed. We identified that it is associated with familial partial lipodystrophy and a heterozygous substitution in exon 8(1445 G→A):R482Q. This is the most frequently mutation. The CT shows that this patient is referred for lipoatrophy of thigh and cnemis, increased visceral fat, adiposis hepatica. Her family members do not have similar clinical manifestation. Her mother had been dead for unknown etiological factor. Therefore, it is helpful to make a definite diagnosis and offer to correct treatment and consultation that making molecular analysis of the LMNA gene (1445G→A) with doubtful female partial lipodystrophy accordingly reduces meaningless consume.