Lipodystrophy, Familial Partial, Type 1

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2019-09-22
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Description

Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986).

For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.

Clinical Features

Kobberling et al. (1975) reported a woman with complete absence of subcutaneous fat on the arms and legs, well-developed adipose tissue on the trunk and face, severe hyperlipidemia, eruptive xanthomas, insulin-resistant diabetes mellitus with lack of ketoacidosis, hepatomegaly, and increased basal metabolic rate. The patient's mother and sister had the same peculiar appearance and slight hyperlipidemia, but no diabetes mellitus. The authors suggested autosomal dominant inheritance.

Johansen et al. (1995) reported a mother and daughter with atrophy of fat in the face, chest, and limbs, and abdominal obesity caused by intraabdominal fat accumulation. The mother had severe insulin resistance and impaired glucose tolerance, whereas the daughter did not. Both had metabolic rates about 30% above normal levels.

Herbst et al. (2003) reported 13 patients with FPLD1. All lacked subcutaneous fat in the extremities and gluteal region, but had normal or increased truncal fat. There was normal or increased fat in the face and around the neck. All patients except 1 reported that their body habitus was present in childhood. Other features included hypertension, coronary artery disease, and diabetes. Laboratory studies showed increased total cholesterol, decreased high density lipoprotein, increased triglycerides, and hyperglycemia. Acanthosis nigricans was present in 1 patient with diabetes. None of the patients had polycystic ovary syndrome. Herbst et al. (2003) noted that only women have been reported with FPLD1. None of the patients had mutations in the LMNA (150330) or PPARG (601487) genes.