Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)

Familial partial lipodystrophy, Dunnigan type (FPLD), is a rare autosomal d ominant genetic disorder characterized by gradual loss of sc fat from the e xtremities, commencing at the time of puberty. Excess fat deposition may oc cur in the face and neck area. Limited information is available about adipo se tissue distribution in patients with FPLD. To investigate whether there is a unique pattern of fat distribution in both affected men and women with FPLD, we performed whole-body magnetic resonance imaging in one male and t hree female patients from two pedigrees. Magnetic resonance imaging studies confirmed the clinical findings of near-total absence of sc fat from all e xtremities. Reduction in sc adipose tissue from the truncal area was more p rominent anteriorly than posteriorly. Increased fat stores were observed in the neck and face. Intermuscular adipose tissue in the extremities and pel vic area were subjectively increased. Intraabdominal and intrathoracic adip ose tissue was not reduced. Bone marrow fat, as well as mechanical adipose tissue, was present in normal amounts. The pattern of fat distribution in t he male and females was similar. We conclude that FPLD results in a charact eristic absence of sc fat from the extremities, with preservation of interm uscular fat stores.