12585 Metabolic Profile In Familial Partial Lipodystrophy Type 3: Case Series Of A Family
Abstract
Abstract Disclosure: V.P. de Souza: None. J.R. Calmon: None. V. Pacheco: None. R.D. Muniz: None. R.B. Muniz: None. C.M. Valerio: None. A.F. Godoy-Matos: None. Background: Familial partial lipodystrophy (FPLD) is a group of genetic disorders, generally autosomal dominant, caused by heterozygous pathogenic variants, characterized by abnormal distribution of body fat and metabolic complications. We will present a series of three cases of patients from the same family, with involvement of the PPARG variant c.846delC p.Leu283*, associated with type 3 FPLD. Case 1. Index patient, a 17-year-old woman hospitalized with pancreatitis. On physical examination, she presents with acanthosis nigricans, hirsutism and a skinfold measurement on the thigh of 21mm (RR < 22mm in women). At the time, she had triglycerides (TG) of 1529 mg/dL (RR < 150 mg/dL) and HbA1c of 8.4% (RR < 5.7%), and was positive for PPARG mutation. The patient started fibrate, regular and NPH insulins, metformin and pioglitazone, with good response to clinical treatment during the follow-up. Nowadays, she maintains use of oral antidiabetics, lowering TG down to 217 mg/dL and HbA1c to 6.3%. She has a recent liver ultrasound with mild steatosis - US fat fraction of 11% (RR mild 5-15%), and elastography with METAVIR F0 - 4.8 kPa (RR < 5 kPa) IQR 7.9%. Case 2. A 41-year-old female patient, mother of the index patient, has a previous history of gestational diabetes that progressed to DM with multiple complications,…
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