Lipodystrophy

A disorder of adipose (fatty) tissue characterized by a selective loss of body fat. Patients with lipodystrophy have a tendency to develop insulin resistance, diabetes, a high triglyceride level (hypertriglyceridemia), and fatty liver. There are numerous forms of lipodystrophy that are genetic (inherited) or acquired (not inherited). The genetic forms of lipodystrophy include congenital generalized lipodystrophy (the Berardinelli-Seip syndrome) and several types of familial partial lipodystrophy (the Dunnigan type, the Köbberling type, the mandibuloacral dysplasia type). The acquired forms of lipodystrophy include acquired generalized lipodystrophy (the Lawrence syndrome), acquired partial lipodystrophy (the Barraquer-Simons syndrome), and lipodystrophy induced by protease inhibitors used to treat HIV.

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Defective metabolism of fat. SYN: lipodystrophia. [lipo- + G. dys-, bad, difficult, + trophe, nourishment]

- congenital total l. [MIM*269700] characterized by almost complete lack of subcutaneous fat, accelerated rate of growth and skeletal development during the first 3–4 years of life, muscular hypertrophy, cardiac enlargement, hepatosplenomegaly, acanthosis nigricans, hypertrichosis, renal enlargement, hypertriglyceridemia, and hypermetabolism; autosomal recessive inheritance. SYN: Berardinelli syndrome, Seip syndrome.

- familial partial l. [MIM*151660] characterized by symmetric lipoatrophy of the trunk and limbs but the face is spared; with full rounded face, xanthomata, acanthosis nigricans, and insulin-resistant hyperglycemia; there is accumulation of fat around the neck and shoulders and genitalia. SYN: Kobberling-Dunnigan syndrome.

- insulin l. dystrophic atrophy of subcutaneous tissues in diabetics at the site of frequent injections of insulin. SYN: insulin lipoatrophy.

- membranous l. a rare metabolic disease in which bone marrow fat cells are transformed into thick convoluted PAS-staining membranes enclosing weakly osmophilic material; leads to progressive cystic resorption of limb bones and dementia with sudanophilic leukodystrophy.

- progressive l. a condition characterized by a complete loss of the subcutaneous fat of the upper part of the torso, the arms, neck, and face, sometimes with an increase of fat in the tissues about and below the pelvis. SYN: Barraquer disease, lipodystrophia progessiva superior, partial lipoatrophy, Simons disease.

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li·po·dys·tro·phy .lip-ō-'dis-trə-fē, .līp- n, pl -phies a disorder of fat metabolism esp. involving loss of fat from or deposition of fat in tissue compare LIPIDOSIS

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n.

any condition resulting in the loss of fat tissue from part or all of the body. It may be congenital or acquired later in life. Congenital lipodystrophies include Kobberling-Dunnigan syndrome, an autosomal dominant condition more common in women, who lose fat tissue from their limbs and lower bodies and often also suffer with polycystic ovary syndrome. Another condition is Seip-Beradinelli syndrome, which is autosomal recessive and involves more generalized fat-tissue loss. Acquired forms usually follow an acute illness in childhood and may involve all or part of the body.

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lipo·dys·tro·phy (lip″o-disґtrə-fe) [lipo- + dystrophy] 1. any disturbance of fat metabolism. 2. a group of conditions due to defective metabolism of fat, resulting in the absence of subcutaneous fat; they may be congenital or acquired and partial or total. Called also lipoatrophy.