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An inherited metabolic disorder mainly affecting young female adults characterized by insulin resistance with glucose intolerance, hypertriglyceridemia, and partial lipodystrophy. Slow onset initially presenting with progressive loss of subcutaneous adipose tissue. Other features include hypocomplementemia, glomerulonephritis, and autoimmune disorders.

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Familial Partial Lipodystrophy (FPLD).

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Familial Partial Lipodystrophy Type I (Köbberling Type): Characterized by loss of adipose tissue confined to the extremities, with normal or increased amounts of fat on the face, neck, and trunk. So far, this type has been reported only in females.

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Familial Partial Lipodystrophy Type II (Dunnigan Type; Familial Lipodystrophy of Limbs and Lower Trunk; Reverse Partial Lipodystrophy; Lipoatrophic Diabetes): Characterized by partial lipodystrophy with onset around puberty after a normal fat distribution in early childhood. The subcutaneous adipose tissue gradually disappears from the upper and lower extremities and the gluteal and truncal regions. Clinical features include a muscular appearance with prominent superficial veins, a double chin, fat neck, or cushingoid appearance. Adipose tissue may accumulate in the axillae, back, labia majora, and intraabdominal region. Acanthosis nigricans, hirsutism, and menstrual abnormalities (polycystic ovary syndrome) occur occasionally. Affected patients are insulin resistant and may develop glucose intolerance and diabetes mellitus after age 20 years.

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Familial Partial Lipodystrophy Type III (Familial Partial Lipodystrophy Associated with PPARG Mutations): Characterized by frank type II diabetes requiring insulin treatment and severe sustained hypertension.

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Approximately 20 patients with FPLD I have been reported in the literature. More than 200 cases of FPLD II have been described. Females are approximately 5 times more often affected than men. Both types, but particularly FPLD I, are most likely far more common than previously thought.

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All forms of FPLD (type I-III) are autosomal dominant inherited, although for some cases of FPLD II X-linked dominant transmission has been discussed. The genetic defects map to 1q21.2 and 3p25 for FPLD II, to 7q11.23-q21 and 3p25 for FPLD III, while for type I the locus has not been determined, yet.

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A missense mutation in the gene encoding lamins A and C (LMNA). Lamins provide structural integrity of the nuclear envelope and are associated with chromatins and other nuclear proteins. The exact mechanism by which lamins affect the fat distribution remains to be elucidated.

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Phenotype is characteristic, although it has been confused with Cushing syndrome. MRI studies verify virtual absence of subcutaneous fat in extremities with or without trunk involvement with excessive collection of adipose tissue in the head and neck region. Hypertriglyceridemia and hyperinsulinemia.

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Type I is characterized by the gradual disappearance of most subcutaneous adipose tissue from the lower extremities and gluteal areas at puberty. Muscles and superficial veins become prominent in these areas. In type II, there is also disappearance of adipose tissue from the upper extremities and trunk, with simultaneous accumulation of adipose tissue on the face and neck, giving a cushingoid appearance. Adipose tissue may accumulate in ...

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