The Frequency of V122I Transthyretin Mutation in a Cohort of African American Individuals With Bilateral Carpal Tunnel Syndrome.

ABSTRACT:

Introduction

Hereditary transthyretin amyloidosis (hATTR) can cause multisystem organ disorders including polyneuropathy and cardiomyopathy. Amongst the many known pathologic mutations of the transthyretin (TTR) gene, the Val122Ile (V122I) mutation can be found in 3-4% of African Americans. Up to 47% of patients with the V122I hATTR cardiomyopathy had a history of carpal tunnel syndrome (CTS). This raises the question should we screen for this mutation in African Americans with bilateral CTS for the purpose of preventing advanced disease associated with hATTR. This is a prospective pilot study to determine the likelihood of African Americans with bilateral CTS having the V122I mutation and whether various clinical factors contribute to that probability.

Methodology

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SUBMITTER: Shije JZ 

PROVIDER: S-EPMC9360589 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature