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Updated: May 19, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Familial amyloidotic polineuropathy and systemic lupus
A C Ferreira1, F Carvalho, F Nolasco
1Department of Nephrology, Centro Hospitalar de Lisboa Central, Hospital de Curry Cabral, Lisbon, Portugal. karinadacostafer@hotmail.com
Abstract:
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.
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