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Dunnigan-type familial partial lipodystrophy in a large Portuguese Kindred
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Orientador(es)
Resumo(s)
The lipodystrophies are a clinically heterogeneous group of acquired or inherited disorders affecting adipose tissue distribution. Dunnigan-type familial partial lipodystrophy (FPLD2, OMIM 151660, the most prevalent subtype) is a rare autosomal dominant disease, characterized by selective absence of adipose tissue in the extremities and trunk and accumulation of fat in the face, neck and supraclavicular fossa. The patients have a muscular hypertrophic appearance, especially in the lower limbs. Affected children are born with normal fat distribution, may present hyperlipidemia in childhood and after puberty start to progressively lose the subcutaneous fat. Later in life, affected adults may experience some metabolic disorders including hypertriglyceridemia, insulin resistance, diabetes mellitus, hepatic steatosis and high blood pressure. Acanthosis nigricans, hirsutism, menstrual abnormalities and polycystic ovarian disease can also occur in affected women. The phenotype appears more pronounced in females.
The aim of this study was to characterize clinically and molecularly a family with clinical diagnosis of lipodystrophy.
Descrição
Palavras-chave
Doenças Cardio e Cérebro-vasculares Lipodystrophies Portugal
Contexto Educativo
Citação
Editora
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP