ea0041gp59 | Cardiovascular endocrinology | ECE2016
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 ...