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Updated: Mar 29, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis
Morie A Gertz1, Merrill D Benson2, Peter J Dyck3
1Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Abstract:
Transthyretin amyloidosis is a fatal disorder that is characterized primarily by progressive neuropathy and cardiomyopathy. It occurs in both a mutant form (with autosomal dominant inheritance) and a wild-type form (with predominant cardiac involvement). This article guides clinicians as to when the disease should be suspected, describes the appropriate diagnostic evaluation for those with known or suspected amyloidosis, and reviews the interventions currently available for affected patients.
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