Familial Amyloidotic Polineuropathy and Systemic Lupus

• Author(s): Ferreira, AC ; Carvalho, F ; Nolasco, F
• Date: 2012
• Persistent ID: http://hdl.handle.net/10400.17/1591
• Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Subject(s): 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
• Document Type: Article
• Language: English

Description

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.