Oghina Silvia, Legallois Damien, Hyafil Fabien, Amara Walid, Andrès Emmanuel, Bardin Thomas, Fournier Pauline, Guignard Sandra, Labeyrie Céline, Piriou Nicolas, Toulza Olivier, Tresorier Romain, Canali Giorgia, Dubois Margaux, Bouquillon Benoit, Sauvage Cédric, Sabouret Pierre, Charron Philippe, Damy Thibaud
Department of Cardiology and French National Reference Centre for Cardiac Amyloidosis, GRC Amyloid Research Institute and Clinical Investigation Centre, Hôpitaux Universitaires Henri-Mondor Assistance Publique-Hôpitaux de Paris, Créteil, France.
Department of Cardiology, Centre Hospitalier Universitaire de Caen-Normandie, Normandie University, Caen, France.
Ann Med. 2025 Dec;57(1):2525391. doi: 10.1080/07853890.2025.2525391. Epub 2025 Jun 30.
Diagnosis of cardiac amyloidosis (CA) is complex and implicates several medical specialists. CA is usually suspected based on symptoms ('red flags') and non-invasive imagery. Early diagnosis and appropriate treatment are critical in patients with CA.
The DIAM-ATTR survey assessed the diagnostic pathway, from the French healthcare professional's (HCPs) perspective, for patients with transthyretin amyloidosis (ATTR)-cardiomyopathy (CM). Between February and March 2023, 13,830 HCPs were solicited to complete a 35-question survey.
Among the 13,830 HCPs solicited, 1264 HCPs completed the survey: 471 cardiologists, 186 internists, 148 nuclear medicine physicians, 125 geriatricians, 120 orthopaedic surgeons, 112 neurologists, and 102 rheumatologists. In general, echocardiographic abnormalities, heart failure, and a family history of amyloid neuropathy evoked CA. The knowledge of the 22 'red flags' assessed varied among specialists. Among HCPs, 70% had suspected an ATTR-CM: from 96% of cardiologist to 6% of orthopaedic surgeons. Complete diagnosis was performed by 48% of both cardiologists and internists. The other HCPs referred patients to colleagues for complete diagnosis. Overall, echocardiography was performed first, then gammopathy assessment and bone scintigraphy. Delays for examinations and difficulties varied among specialists.
Overall, French HCPs prioritize diagnostic examinations for ATTR-CM as recommended. However, HCPs need an increased awareness of 'red flags' and the importance of excluding monoclonal gammopathies during diagnosis.
心脏淀粉样变性（CA）的诊断复杂，涉及多个医学专科。CA通常根据症状（“红旗征”）和非侵入性影像学检查怀疑。早期诊断和适当治疗对CA患者至关重要。
DIAM-ATTR调查从法国医疗保健专业人员（HCPs）的角度评估了转甲状腺素蛋白淀粉样变性（ATTR）-心肌病（CM）患者的诊断途径。2023年2月至3月期间，邀请13830名HCPs完成一项35个问题的调查。
在13830名被邀请的HCPs中，1264名完成了调查：471名心脏病专家、186名内科医生、148名核医学医生、125名老年病医生、120名骨科医生、112名神经科医生和102名风湿病医生。一般来说，超声心动图异常、心力衰竭和淀粉样神经病变家族史提示CA。不同专科医生对评估的22项“红旗征”的了解程度各不相同。在HCPs中，70%曾怀疑ATTR-CM：从96%的心脏病专家到6%的骨科医生。48%的心脏病专家和内科医生进行了完整诊断。其他HCPs将患者转诊给同事进行完整诊断。总体而言，首先进行超声心动图检查，然后进行丙种球蛋白病评估和骨闪烁显像。不同专科医生的检查延迟和困难程度各不相同。
总体而言，法国HCPs按照建议优先对ATTR-CM进行诊断检查。然而，HCPs需要提高对“红旗征”的认识以及在诊断过程中排除单克隆丙种球蛋白病的重要性。
