Session: SUN 723-739-Lipids: Therapeutics & Case Reports
Poster Board SUN-736
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
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