Apostolou Efstratios A, Fontrier Anna-Maria, Efthimiadis Georgios K, Kastritis Efstathios, Parissis John, Kanavos Panos
Department of Health Policy and LSE Health, London School of Economics and Political Science, London, United Kingdom; Heart Failure Unit, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Department of Health Policy and LSE Health, London School of Economics and Political Science, London, United Kingdom.
Hellenic J Cardiol. 2023 Sep-Oct;73:73-80. doi: 10.1016/j.hjc.2023.05.004. Epub 2023 May 16.
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed disease associated with high mortality rates and the patient journey is characterized by increased complexities. Accurate and timely diagnosis and prompt initiation of disease-modifying treatment constitute the contemporary unmet need in ATTR-CM. ATTR-CM diagnosis is characterized by considerable delays and high rates of misdiagnosis. The majority of patients present themselves to primary care physicians, internists, and cardiologists, and many have undergone repeated medical evaluations before an accurate diagnosis has been made. The disease is diagnosed mainly after the development of heart failure symptoms, reflecting a long course of missed opportunities before diagnosis and disease-modifying treatment initiation. Early referral to experienced centers ensures prompt diagnosis and therapy. Early diagnosis, better care coordination, acceleration of digital transformation and reference networks, encouragement of patient engagement, and implementation of rare disease registries are the key pillars to improve the ATTR-CM patient pathway and achieve important benefits in ATTR-CM outcomes.
转甲状腺素蛋白淀粉样变心肌病(ATTR-CM)是一种诊断不足的疾病,死亡率很高,患者病程复杂程度不断增加。准确、及时的诊断以及迅速启动疾病修饰治疗是目前ATTR-CM尚未满足的需求。ATTR-CM的诊断存在相当大的延迟和误诊率。大多数患者会去看初级保健医生、内科医生和心脏病专家,许多患者在做出准确诊断之前已经接受了多次医学评估。该疾病主要在出现心力衰竭症状后才被诊断出来,这反映出在诊断和启动疾病修饰治疗之前有很长一段时间错失了机会。尽早转诊至经验丰富的中心可确保及时诊断和治疗。早期诊断、更好的护理协调、加速数字转型和建立参考网络、鼓励患者参与以及实施罕见病登记是改善ATTR-CM患者就医流程并在ATTR-CM治疗结果方面取得重要成效的关键支柱。