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Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

6 Jan 2016

Abstract excerpt

PURPOSE OF REVIEW: These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers of the mutated gene. RECENT FINDINGS: The effectiveness of current treatment options is still limited in patients...

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PMID: 26734953
DOI: 10.1097/wco.0000000000000290

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