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Updated: May 19, 2026
06:33
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
Lupus
|August 24, 2012
Summary
Familial amyloidotic polyneuropathy (FAP) is a genetic disorder causing neuropathy. This case highlights how co-occurring conditions like angioedema and lupus may influence FAP
Area of Science:
- Genetics
- Neurology
- Immunology
Background:
- Familial amyloidotic polyneuropathy (FAP) is a progressive, autosomal dominant disorder.
- FAP is characterized by the systemic deposition of amyloid fibrils, leading to sensory-motor and autonomic neuropathy.
- The Portuguese classical form of FAP typically presents in young individuals and is fatal without treatment.
Observation:
- A case of a 51-year-old female with late-onset FAP is presented.
- The patient had a medical history that included acquired angioedema and systemic lupus erythematosus.
- This unique combination of conditions in a single patient is noteworthy.
Findings:
- The study reports a rare co-occurrence of late-onset FAP with acquired angioedema and systemic lupus erythematosus.
- Variability in FAP's clinical presentation, including age of onset and disease progression, is influenced by genetic and environmental factors.
- The authors hypothesize that the co-existing conditions may modulate the expression of FAP.
Implications:
- This case underscores the importance of considering comorbidities in the management of genetic disorders like FAP.
- Understanding how associated diseases influence FAP expression could lead to personalized treatment strategies.
- Further research into gene-environment interactions in FAP is warranted to explain clinical variability.
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