Familial amyloidotic polineuropathy and systemic lupus

• Published in: Lupus Vol. 21; no. 13; pp. 1455 - 1458
• Main Authors: Ferreira, AC, Carvalho, F, Nolasco, F
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01-11-2012; Sage Publications Ltd
• Subjects: Age; Amyloid; Amyloid Neuropathies, Familial - complications; Amyloid Neuropathies, Familial - diagnosis; Amyloid Neuropathies, Familial - genetics; Amyloid Neuropathies, Familial - immunology; angioedema; Angioedema - etiology; Atrophy; Autonomic nervous system; Biopsy; Case reports; Creatinine; Deposits; Disease; DNA Mutational Analysis; Female; Genetic factors; Genetic Predisposition to Disease; Humans; Kidney - pathology; Kidney transplants; Lupus; Lupus Erythematosus, Systemic - complications; Lupus Erythematosus, Systemic - diagnosis; Lupus Erythematosus, Systemic - immunology; Lupus Nephritis - etiology; Malnutrition; Middle Aged; Nephrology; Neuropathy; Patients; Phenotype; Polymorphism; Prealbumin - genetics; Prognosis; Proteins; Renal Insufficiency, Chronic - etiology; Skin - pathology; Systemic lupus erythematosus; familial amyloidotic polineuropathy; renal lupus; modulation
• ISSN: 0961-2033; 1477-0962
• DOI: 10.1177/0961203312458470

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.