Lipodystrophy syndromes

Abstract

Lipodystrophy syndromes comprise a group of rare, heterogeneous disorders characterized by progressive loss of fat tissue, mainly from subcutaneous compartment and occasionally affecting visceral fat. Lipoatrophy may be partial, localized, or generalized. The latter cases are usually accompanied by metabolic-related disorders, including insulin resistance, diabetes mellitus, hyperlipemia, progressive hepatic disease and anabolic state. Treatment for lipodystrophy has increased interest in recent years because a new lipoatrophic population-patients who have HIV-associated lipodystrophy--is much more numerous than the whole number of patients affected by classic lipodystrophy entities.

Fig. 1

Clinical features of patients with various types of lipodystrophies. A. Lateral view of an 8-year-old African-American female with congenital generalized lipodystrophy (also known as Berardinelli-Seip congenital lipodystrophy), type 1 due to homozygous c.377insT (p.Leu126fs*146) mutation in AGPAT2. The patient had generalized loss of sc fat at birth and developed mild acanthosis nigricans in the axillae and neck later during childhood. She had umbilical prominence and acromegaloid features (enlarged mandible, hands and feet). B. Anterior view of a 65-year-old Caucasian female with familial partial lipodystrophy of the Dunnigan variety due to heterozygous p.Arg482Gln mutation in LMNA. She noticed loss of sc fat from the limbs at the time of puberty and later lost sc fat from the anterior truncal region. The breasts were atrophic. She had increased sc fat deposits in the face, anterior neck, suprapubic and vulvar region, and medial parts of the knees. C. Lateral view of an 8-year-old German boy with acquired generalized lipodystrophy. He started experiencing generalized loss of sc fat at age 3 with marked acanthosis nigricans in the neck, axillae and groin. He developed Crohn’s disease at age 11 requiring hemicolectomy at age 13. D. Anterior view of a 39-year-old Caucasian female with acquired partial lipodystrophy (Barraquer-Simons syndrome). She noticed marked loss of sc fat from the face, neck, upper extremities, chest and abdomen at the age of 12 years but later developed increased sc fat deposition in the lower extremities. E. Lateral view of a 39-year-old Caucasian male infected with human immunodeficiency (HIV) virus with protease inhibitor containing highly active antiretroviral therapy induced lipodystrophy. He had marked loss of sc fat from the face and limbs but had increased sc fat deposition in the neck region anteriorly and posteriorly showing buffalo hump. Abdomen was protuberant due to excess intra-abdominal fat. He had been on protease inhibitor containing antiretroviral therapy for more than 7 years. From Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 96:3313–25, 2011, with permission.