[Hereditary and acquired transthyretin-mediated amyloidosis]

We describe three cases, two 70-year-old males with mainly cardiac symptoms and a 34-year-old male with gastro-intestinal and neurologic symptoms. Each patient was shown to have a distinctive type of transthyretin-mediated amyloidosis (ATTR). ATTR amyloidosis is a life-threatening disease characterised by the extracellular deposition of pathogenic transthyretin (TTR). A distinction is made between hereditary ATTR (ATTRv), in case of a pathogenic TTR mutation, and the acquired wild-type ATTR (ATTRwt). The prevalence of ATTR amyloidosis is probably underestimated. The variety of symptoms means that patients often visit several specialists, resulting in an average diagnostic delay of two to three years. Because of the development of new therapeutic possibilities, early diagnosis becomes more important to allow initiation of therapy at an early stage of the disease. Family members should be screened and asymptomatic carriers should undergo follow-up.