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Abstract
Background: Transthyretin amyloidosis (ATTR) is a rare, often underdiagnosed and undertreated, autosomal dominantly inherited, progressive disease that affects multiple systems of the body. It results from the extracellular accumulation of misfolded transthyretin (TTR) protein as insoluble amyloid fibrils, predominantly causing cardiomyopathy, polyneuropathy or mixed phenotypes. It can occur in a hereditary form (ATTRv) and in a wild-type form (ATTRwt), with over 150 different pathogenic mutations having been identified worldwide. The clinical presentation is highly variable, leading to a diagnostic delay of 2–5 years. Transthyretin (TTR) amyloidosis is an inherited disease for which recent advances in pathogenesis, diagnosis and treatment have revolutionized its management. Objectives: The aims of this review are to provide an update on the epidemiology and genotype-phenotype correlation, on current diagnostic techniques and on emerging and individualized treatments for this rare hereditary disease.