Fine Nowell, Ducharme Anique, Matte Genevieve, Mezei Michelle, Bril Vera, Delgado Diego
Division of Cardiology, Department of Cardiac Sciences, Libin Cardiovascular Institute, Cumming School of Medicine, University of Calgary, Calgary Alberta, Canada.
Department of Medicine, Montreal Heart Institute, Université de Montréal, Montreal, Quebec, Canada.
CJC Open. 2025 Mar 10;7(5):614-627. doi: 10.1016/j.cjco.2025.03.002. eCollection 2025 May.
Hereditary amyloid transthyretin variant (ATTRv) amyloidosis is a rare, life-threatening disease, characterized by the deposition of aggregated transthyretin (TTR) protein in multiple organs and tissues. Diagnosis is often delayed due to its heterogeneity in presentation, which includes a wide range of cardiac and/or neurologic symptoms. Thus, awareness of ATTRv amyloidosis across multiple specialties is needed for its early diagnosis and management. This paper provides a review surrounding the diagnosis and management of mixed phenotype ATTRv amyloidosis, addressed through 3 clinical questions. This paper discusses: (i) the need for patients with ATTRv amyloidosis to be screened for mixed cardiac and neurologic phenotypes through early multidisciplinary referral; (ii) the therapeutic landscape for ATTRv amyloidosis in Canada, with emphasis on the need for prompt therapy selection and initiation, based on multidisciplinary collaboration; and (iii) how disease can be monitored pre- and post-treatment. Case studies are provided to illustrate how the available evidence impacts practice.
遗传性转甲状腺素蛋白变异型（ATTRv）淀粉样变性是一种罕见的、危及生命的疾病，其特征是转甲状腺素蛋白（TTR）在多个器官和组织中聚集沉积。由于其临床表现的异质性，包括广泛的心脏和/或神经症状，诊断往往会延迟。因此，多个专科对ATTRv淀粉样变性的认识对于其早期诊断和管理至关重要。本文围绕混合表型ATTRv淀粉样变性的诊断和管理进行综述，通过3个临床问题展开探讨。本文讨论了：（i）ATTRv淀粉样变性患者需要通过早期多学科转诊筛查混合心脏和神经表型；（ii）加拿大ATTRv淀粉样变性的治疗前景，强调基于多学科合作及时选择和启动治疗的必要性；（iii）治疗前后如何监测疾病。提供了案例研究来说明现有证据如何影响实践。
