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Case Reports
. 2024 May 15:17:11795476241253106.
doi: 10.1177/11795476241253106. eCollection 2024.

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

Julieth Vivian Sarmiento Palma  1 , Santiago Sambracos Parrado  1 , Maria Camila Echeverria  1 , Paula Ruiz Talero  1   2
Affiliations
Case Reports

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

Julieth Vivian Sarmiento Palma et al. Clin Med Insights Case Rep. .

Abstract

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.

Keywords: Amyloidosis; autonomic nervous system diseases; orphan disease; small fiber neuropathy; transthyretin.

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Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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