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

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