Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 723-739-Lipids: Therapeutics & Case Reports
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-736
Paula Freitas*, Eva Lau and Davide Carvalho
Centro Hospitalar So Joo; Faculty of Medicine, Porto University, Portugal
Introduction: Familial Partial Lipodystrophy (FPLD) is an autosomal dominant genetic disorder with fat redistribution, characterized by extremities and gluteal region lipoatrophy in combination with face, neck or trunk lipohypertrophy. It is associated with insulin resistance, hypertriglyceridemia and increased risk of recurrent episodes of pancreatitis. The PPARγ mutations forms are called FPLD type 3.

Case report: We report the case of a 60 years old Caucasian woman, child of non-consanguineous, healthy parents. Her neonatal period and psychomotor development were unremarkable. At age of 30, she started to develop upper and lower limbs and gluteal region gradual fat loss, with facial and abdominal fat increased At age of 45, type V dyslipidemia and diabetes were diagnosed; subsequently she was hospitalized for acute pancreatitis. She presented no family history of lipodystrophy. Physical examination revealed the fat redistributions described without buffalo hump or hirsutism. She was overweight (BMI: 27kg/m2; waist circumference:89cm). Genetic study showed a heterozygous mutation in the PPARγ (c.482G> T).

Conclusion: Clinical appearance and past medical history, in conjunction with genetic study have allowed the identification of a new gene mutation in PPAR γ, enabling the diagnosis of FPLD type 3, which is a challenging diagnosis. The case highlights the importance of an early diagnosis, in order to prevent recurrent pancreatitis, and onset of cardiovascular disease.

Nothing to Disclose: PF, EL, DC

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm