Sixty years of experience with hereditary transthyretin amyloidosis: Insights from the Swedish transthyretin amyloidosis registry

Background Hereditary transthyretin (ATTRv) amyloidosis was first described in Sweden in the late 1960s. Selected patient data have been collected since then and have now been transferred to a national quality registry. Methods This is the first report from SveATTR—a longitudinal Swedish web‐based registry open for TTR variant carriers and patients with ATTR amyloidosis. The registry covers basic background information, as well as relevant clinical follow‐up measures and data on disease‐modifying therapies. Data from all ATTRv amyloidosis patients registered through December 2022 were included. Results In total, 1055 patients were included, of whom 65% were males and 95% carried the V30M variant. Median age of onset was 64 years, and 79% had a late disease onset (≥50 years). Eighty‐seven percent of the patients had peripheral polyneuropathy at onset, whereas 10% had cardiac symptoms, 8% had visual disturbances, and 6% had gastrointestinal symptoms. A total of 159 patients had undergone liver transplantation, and 233 had received a disease‐modifying drug. Improved survival was seen for transplanted patients and for patients on drug therapy. Conclusion This report highlights the importance of SveATTR for further characterization of the Swedish ATTRv amyloidosis population as well as for evaluating the efficacy of disease‐modifying therapies.