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Updated: Aug 19, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy
Giuseppe Vita1, Anna Mazzeo, Rita Di Leo
1Dipartimento di Neuroscienze, Scienze Psichiatriche ed Anestesiologiche, Clinica Neurologica 2, Policlinico Universitario, University of Messina, 98125 Messina, Italy. giuseppe.vita@unime.it
Abstract:
In transthyretin familial amyloid polyneuropathy (TTR-FAP), single clinical features rarely remain isolated and are usually accompanied by other symptoms. We describe a patient with TTR-FAP, who had recurrent episodes of syncope for 4 years as an overt and isolated symptom. Later, he experienced paresthesia in the hands, and impotence. Molecular analysis of the TTR gene revealed a Thr49Ala mutation. The unusual clinical presentation presents a diagnostic challenge.
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