Objective Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare, progressive and fatal condition caused by deposition of transthyretin amyloid fibrils in the heart. This study aims to identify all patients diagnosed with ATTR-CM in Sweden, estimate the prevalence of ATTR-CM, describe patient characteristics and mortality, assess the importance of early symptoms (red flags) for identification of ATTR-CM, and compare with patients with heart failure (HF). Methods This retrospective study combined multiple national health registers covering all specialist visits and prescriptions for the entire population of Sweden. Between January 2008 and December 2018, patients with ATTR-CM were identified retrospectively based on a combination of diagnosis codes and compared with matched, all-cause non-ATTR HF patients. Results Overall, a total of 994 patients diagnosed with ATTR-CM were identified, with an average age at diagnosis of 73 years, and 30% of whom were female. The prevalence of diagnosed ATTR-CM cases in 2018 was 5.0 per 100 000. The median survival from diagnosis was 37.6 months (CI 33.8 to 43.8), with a lower median survival in women (27.9 months, CI 23.3 to 33.8) compared with men (43.5 months, CI 37.6 to 49.6). Patients with ATTR-CM demonstrated reduced survival compared with patients with HF (p<0.001). Compared with patients with HF, clinical identification of carpal tunnel syndrome, spinal stenosis, and atrioventricular and left bundle branch block can facilitate earlier diagnosis of ATTR-CM. Conclusions This study provides the first nationwide estimates of ATTR-CM prevalence and risk factors. The results reinforce the severity of the disease and the importance of earlier diagnosis, especially for female patients, in order to allow effective treatment and prevention of disease progression. Data may be obtained from a third party and are not publicly available. All data were obtained from the Swedish National Board of Health and Welfare, the data holder of the national registers used in this study. Data can be obtained from the Swedish National Board of Health and Welfare upon approval from the Swedish Ethical Review Authority.

中文翻译：

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瑞典转甲状腺素蛋白淀粉样变心肌病的全国患病率和特征

目的转甲状腺素蛋白淀粉样变心肌病 (ATTR-CM) 是一种罕见的、进行性的和致命的疾病，由转甲状腺素蛋白淀粉样蛋白原纤维在心脏中沉积引起。本研究旨在识别瑞典所有诊断为 ATTR-CM 的患者，估计 ATTR-CM 的患病率，描述患者特征和死亡率，评估早期症状（危险信号）对识别 ATTR-CM 的重要性，并与患者进行比较心力衰竭（HF）。方法这项回顾性研究结合了多个国家健康登记册，涵盖了瑞典整个人口的所有专科就诊和处方。2008 年 1 月至 2018 年 12 月期间，根据诊断代码的组合回顾性识别 ATTR-CM 患者，并与匹配的全因非 ATTR HF 患者进行比较。结果 总体而言，共确定了 994 名诊断为 ATTR-CM 的患者，诊断时的平均年龄为 73 岁，其中 30% 为女性。2018 年确诊 ATTR-CM 病例的患病率为每 10 万例 5.0。诊断后的中位生存期为 37.6 个月（CI 33.8 至 43.8），与男性相比，女性的中位生存期（27.9 个月，CI 23.3 至 33.8）较低（43.5 个月，CI 37.6 至 49.6）。与 HF 患者相比，ATTR-CM 患者的生存率降低（p<0.001）。与HF患者相比，临床鉴别腕管综合征、椎管狭窄、房室及左束支传导阻滞有助于ATTR-CM的早期诊断。结论 本研究首次提供了对 ATTR-CM 患病率和危险因素的全国性估计。结果强调了疾病的严重性和早期诊断的重要性，尤其是对于女性患者，以便有效治疗和预防疾病进展。数据可能从第三方获得并且不公开可用。所有数据均来自瑞典国家卫生与福利委员会，该委员会是本研究中使用的国家登记册的数据持有者。数据可以在瑞典伦理审查局批准后从瑞典国家卫生和福利委员会获得。本研究中使用的国家登记册的数据持有者。数据可以在瑞典伦理审查局批准后从瑞典国家卫生和福利委员会获得。本研究中使用的国家登记册的数据持有者。数据可以在瑞典伦理审查局批准后从瑞典国家卫生和福利委员会获得。