Transthyretin-related Familial Amyloid Polyneuropathy: A Case Report
Sara Nikolova
Orcid-Profil und Daniela Ristikj-Stomnaroska
- General Medicine Study Program, University “Goce Delchev”, Faculty of Medical SciencesShtip, Republic of North Macedonia
- Department of NeurologySkopje, Republic of North Macedonia
Orcid-Profil 
Online veröffentlicht: 17. Nov. 2024
Seitenbereich: 424 - 428
Eingereicht: 20. Juli 2024
Akzeptiert: 01. Sept. 2024
DOI: https://doi.org/10.3889/oamjms.2024.11956
Schlüsselwörter
© 2024 Sara Nikolova et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License.
BACKGROUND
Hereditary amyloidosis transthyretin is an autosomal dominant disease caused by heterozygous mutations in the transthyretin gene. The disease is characterized by amyloid deposits in various organs, primarily in the peripheral nerves and the myocardium.
CASE PRESENTATION
A 53-year-old female patient with the onset of symptoms 2 years earlier, presented with fatigue, difficulty walking, progressive muscle weakness, tingling in the hands and feet, blood pressure variations, weight loss, and constipation. There was no positive family history of familial amyloid polyneuropathy (FAP). Electromyography revealed sensorimotor axonal neuropathy; electrophoresis of cerebrospinal fluid was of transudative type, without immune activity in the central nervous system, while echocardiography detects hypertrophic myocardium and interventricular septum.
CONCLUSION
All patients who show symptoms of peripheral neuropathy with predominant signs of autonomic nervous system damage and hypertrophic cardiomyopathy should be referred for genetic testing for FAP.