Familial partial lipodystrophy type 3: a new mutation on the PPARG gene.

Familial partial lipodystrophy is an autosomal dominant genetic disorder characterized by lipoatrophy of the extremities and gluteal region and lipohypertrophy of the face, neck and/or trunk. It is associated with insulin resistance, hypertriglyceridemia and increased risk of recurrent episodes of pancreatitis. The PPARG mutation forms, called familial partial lipodystrophies type 3, are very rare, accounting for only approximately 30 patients. We report here the case of a 60-year old Caucasian woman who had started to develop gradual fat loss of the extremities and gluteal region and facial and abdominal fat increase at 30 years of age. Subsequently, type V dyslipidemia and diabetes were diagnosed and she developed acute pancreatitis. Physical examination confirmed clinical lipodystrophy. A genetic study revealed a heterozygous mutation in the PPARG gene (p.Gly161Val; c.482G>T), not previously described. In conclusion, clinical appearance and past medical history in conjunction with the genetic study led to the identification of a novel gene mutation in PPARG, enabling the diagnosis of familial partial lipodystrophy type 3. This case highlights the importance of early recognition of a lipodystrophy syndrome in order to prevent metabolic complications, recurrent pancreatitis and the onset of cardiovascular disease.