Polyneuropathy as an initial manifestation of Hereditary Transtyretin Amyloidosis (ATTRV) in a young patient: Case report of a diagnostic challenge

Autor: Julieth Vivian Sarmiento Palma, Santiago Sambracos Parrado, Maria Camila Echeverria, Paula Ruiz Talero
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Clinical Medicine Insights: Case Reports, Vol 17 (2024)
Druh dokumentu: article
ISSN: 1179-5476
11795476
DOI: 10.1177/11795476241253106
Popis: We report the case of a 27-year-old man with transthyretin amyloidosis secondary to the p.Val142Ile mutation with an atypical clinical presentation of predominantly lower limb polyneuropathy without cardiac involvement. p.Val142Ile is mainly associated with cardiopathy, whereas the neuropathic phenotype is mainly associated with p.Val50Met. Our patient belongs to a non-endemic region and due to his lack of support network a possible familial component is unknown. His case represents a diagnostic challenge given the wide heterogeneity of clinical manifestations associated with the disease, with other possible diagnoses of polyneuropathy being reasonably excluded according to prevalence and frequency. The particularly unusual genotype-phenotype association distinguishes this case from the classic description of transthyretin amyloidosis secondary to p.Val142Ile.
Databáze: Directory of Open Access Journals
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