2025/09/17 by Lotta Stenberg, Björn Pilebro, Intissar Anan +5 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Amyloidosis: Diagnosis, Treatment, Outcomes #IgG4-Related and Inflammatory Diseases #Multiple Myeloma Research and Treatments
paper · pdf · doi:10.1111/joim.70020
openalex publication_date 2025/09/17 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
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.