Familial Amyloidotic Polineuropathy and Systemic Lupus

• Autor(a) principal: Ferreira, AC
• Data de Publicação: 2012
• Outros Autores: Carvalho, F, Nolasco, F
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.17/1591
• topic: HCC NEF; Neuropatias Amiloides Familiares/complicações; Neuropatias Amiloides Familiares/diagnóstico; Neuropatias Amiloides Familiares/genética; Angioedema; Biópsia; Análise Mutacional de DNA; Predisposição Genética para a Doença; Rim; Lúpus Eritematoso Sistémico; Nefrite Lúpica; Prealbumina; Prognóstico; Insuficiência Renal Crónica; Pele/patologia; Fenótipo

Familial amyloidotic polineuropathy is a genetic disorder, leading to systemic amyloid deposits, manifested as sensory-motor and autonomic neuropathy. In the Portuguese classical form, the disease is evident at a young age, and causes death if no specific treatment is received. Variability in penetrance, age of onset and clinical course has been published; environmental and genetic factors are believed to contribute to this variability. The authors report a case of a 51-year-old white female, with a medical history of acquired angioedema, late-onset familial amyloidotic polineuropathy and systemic lupus erythemathosus. The authors consider that these associated diseases could modulate their expression.