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Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant, life-threatening genetic disorder caused by a single-nucleotide variant in the transthyretin…

IntroductionTransthyretinexternal link, opens in a new tab amyloid cardiomyopathyexternal link, opens in a new tab (ATTR-CM) is a progressive disease that causes…

IntroductionHereditary transthyretin amyloidosis (ATTRv, also referred to as hATTR; ORPHA 271861) and wild-type ATTR amyloidosis (ATTRwt; ORPHA 330001) are rare,…

Why genetic testing is criticalGenetic testing looks for changes, sometimes called variants, in your DNA. Genetic testing is useful in many areas of medicine and…

What is transthyretin amyloid cardiomyopathy?Transthyretin (trans-thy-re-tin) amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed and potentially fatal disease of…

Renal amyloidosis is a set of complex disorders characterized by the deposition of amyloid proteins in the kidneys, which causes gradual organ damage and potential…

Gastrointestinal manifestations are common across all hereditary transthyretin amyloidosisexternal link, opens in a new tab (ATTRv) genotypes. However, they are…

Awareness of transthyretin amyloid cardiomyopathy (ATTR-CM) has increased over the years due to diagnostic and therapeutic developments. Timely initiation of novel…

Amyloidosis is a systemic disorder characterized by the extracellular deposition of amyloid fibrils in various tissues, with the potential for cardiac involvement.…

Rare diseases (RD) affect a small number of people compared to the general population and are mostly genetic in origin. The first clinical signs often appear at…