Searchable abstracts of presentations at key conferences in endocrinology

ea0041gp59 | Cardiovascular endocrinology | ECE2016

Familial partial lipodystrophy type 3 due to PPARgamma mutation: presentation with diabetes and severe hypertriglyceridemia

Oliveira Joana , Cunha Filipe , Rodrigues Elisabete , Menezes Joana , Saavedra Ana , Costa Maria Manuel , Magalhaes Daniela , Bettencourt-Silva Rita , Fernandes Susana , Oliveira Joao Paulo , Carvalho Davide , Freitas Paula

Introduction: Familial partial lipodystrophy (FPL) is an autosomal dominant disease characterized by selective loss of subcutaneous fat from the extremities and gluteal region, with lipohypertrophy of the face, neck and trunk. It is usually tightly linked with severe metabolic complications. FPL type 3 results from peroxisome proliferator-activated receptor gamma (PPARG) mutations.Case presentations: Fifty three-year-old woman, referred to endocrinology ...