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.

Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy.

FERLINI, Alessandra
2005

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.
2005
Vita, G; Mazzeo, A; DI LEO, R; Ferlini, Alessandra
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/470462
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