A-224 Comparative Analysis of Clinical and Laboratory Parameters of Different Subtypes of Familial Partial Lipodistrophy

Abstract

Abstract Background Lipodystrophy is a disease characterized by changes in body fat deposits. They are classified according to the extent of fat loss (generalized or partial) and the form of inheritance (inherited or acquired). Family partial lipodystrophy (FPL) are rare forms characterized by distribution of centripetal body adiposity, poorly controlled diabetes mellitus (DM) and severe dyslipidemia. Methods Fourty-two FPL patients were evaluated, whose were followed in the lipodistrophy outpatient clinic of the Federal University of Ceará/Brazil. Twenty-two had previous positive molecular test for FPL, among which 19 had an LMNA mutation and 3 had a PPARG mutation. Twenty patients had a negative genetic test but met clinical criteria for lipodystrophy, which were thigh skinfold <20 mm for females and <10 mm for males or fat mass ratio (FMR) between trunk and lower limbs >1.2. Eight patients in the negative genotype group met criteria for Köbberling Syndrome (Köb index >3.477). The others 12 patients were classified as FPL indeterminate subtype (FPLX). Results PFL+ patients perceived the lipodystrophic phenotype before the other groups. All groups had high A1c medians, with the Köbberling group having the highest median (9.1%). However, patients with FPL+ had a higher median insulin dose. Diabetic polyneuropathy was the most prevalent complication in the three groups. Median peak triglycerides were similar for the three groups, with the Köbberling group having the greatest variability. There no pancreatitis episodes in the FPL+ group, but Köbberling e FPLX did. The main findings are shown in Table 1. Conclusion FPL is a disease with a broad spectrum of phenotype and genotype. It is usually associated with poor DM control, early DM complications and severe hypertriglyceridemia, as our patients demonstrated. In these cases, metabolic control is still a challenge.