Transthyretin-related Familial Amyloid Polyneuropathy: A Case Report
DOI:
https://doi.org/10.3889/oamjms.2024.11956Keywords:
Hereditary ATTR amyloidosis, heterozygous mutations, TTR gene, case reportAbstract
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.
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