Journal of internal medicine · 2025
Sixty years of experience with hereditary transthyretin amyloidosis: Insights from the Swedish transthyretin amyloidosis registry.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Stenberg Lotta, Pilebro Björn, Anan Intissar, Baranda Jorge Mejia, Samuelsson Kristin, Eldhagen Per, Backlund Rolf, Wixner Jonas
Аннотация
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.
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.