Amyloid heart disease module 2: management

This article is available as a ‘Standalone BJC Learning module’ CPD activity

Transthyretin amyloidosis (ATTR) is a progressive, fatal disease in which deposition of amyloid derived from either mutant or wild-type transthyretin (wtATTR) causes progressive and severe organ dysfunction. The two key clinical phenotypes are transthyretin amyloid cardiomyopathy (ATTR-CM) or transthyretin amyloid polyneuropathy (ATTR-PN), which both carry significant morbidity and mortality. Hereditary ATTR amyloidosis frequently presents with a mixed phenotype (ATTR-mixed).

ATTR-CM is an infiltrative, restrictive cardiomyopathy characterised by congestive cardiac failure, often with preserved left ventricular ejection fraction, and significant risk of conduction disease.

Treatment focuses on supportive care, reduction and ideally elimination of transthyretin (TTR) from the plasma, stabilisation of the tetramic structure of TTR and dissolution of the existing ATTR amyloid matrix.

Liver transplantation, to remove variant TTR production remains a treatment option for a select cohort of patients with hereditary ATTR-PN, although it is likely to be replaced by novel RNA-targeting therapies aimed at reducing TTR production. TTR stabilisers, such as tafamidis and acoramidis, may offer disease-modifying therapy to the majority of elderly patients with wild-type ATTR-CM. The rapidly evolving landscape of treatment options for ATTR amyloidosis, particularly among older patients with wtATTR, validates improved efforts to diagnose ATTR-CM.

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