Dang Daniel, Fournier Pauline, Cariou Eve, Huart Antoine, Ribes David, Cintas Pascal, Roussel Murielle, Colombat Magali, Lavie-Badie Yoan, Carrié Didier, Galinier Michel, Lairez Olivier
Department of Cardiology, Rangueil University Hospital, Toulouse, France.
Cardiac Imaging Center, Toulouse University Hospital, Toulouse, France.
ESC Heart Fail. 2020 Oct;7(5):2418-2430. doi: 10.1002/ehf2.12793. Epub 2020 Jun 26.
Advances have been made over the last decade in the management of cardiac amyloidosis (CA), but a delayed diagnosis is still common. The aim of this study was to describe the journey to CA diagnosis from initial clinical and to analyse time to diagnosis.
Between January 2001 and May 2019, 270 consecutive patients with CA diagnosed at Toulouse University Hospital were retrospectively included in this cross-sectional study: 111 (41%) light chain amyloidosis, 122 (45%) wild-type transthyretin amyloidosis, and 37 (14%) hereditary transthyretin amyloidosis. CA onset occurred mostly with dyspnoea (50%) or systematic follow-up (10%). The cardiologist was the first line specialist in 68% of patients, followed by the nephrologist (9%) and neurologist (8%). Patients encountered a median (minimum-maximum) number of two (1-7) physician specialists and performed a median (minimum-maximum) number of three (1-8) tests before diagnosis. Median delay between symptom onset and CA diagnosis was 8 [IQR 5-14], 10 [IQR 3-34], and 18 [IQR 4-49] months, respectively, in light chain amyloidosis, wild-type transthyretin amyloidosis, and hereditary transthyretin amyloidosis subgroups (P = .060). Having performed electromyography or spirometry was associated with a longer delay in diagnosis in the overall population: odds ratio = 1.13; 95% confidence interval 1.02 to 1.24; and odds ratio = 1.13; 1.03 to 1.24, respectively, probably due to non-specific initial symptoms.
CA is a protean disease with various first line specialists causing a diagnostic wandering despite increasing medical community awareness. It requires a multidisciplinary specialist care networks to educate and manage symptoms and therapies.
在过去十年中，心脏淀粉样变性（CA）的管理取得了进展，但延迟诊断仍然很常见。本研究的目的是描述从最初临床症状到CA诊断的过程，并分析诊断时间。
在2001年1月至2019年5月期间，图卢兹大学医院连续诊断的270例CA患者被纳入这项横断面研究：111例（41%）为轻链淀粉样变性，122例（45%）为野生型转甲状腺素蛋白淀粉样变性，37例（14%）为遗传性转甲状腺素蛋白淀粉样变性。CA发病主要表现为呼吸困难（50%）或系统随访（10%）。68%的患者的一线专科医生是心脏病专家，其次是肾病专家（9%）和神经科专家（8%）。患者在诊断前平均（最小-最大）看了两位（1-7位）专科医生，平均（最小-最大）进行了三项（1-8项）检查。轻链淀粉样变性、野生型转甲状腺素蛋白淀粉样变性和遗传性转甲状腺素蛋白淀粉样变性亚组中，症状出现到CA诊断的中位延迟分别为8[四分位间距5-14]、10[四分位间距3-34]和18[四分位间距4-49]个月（P = 0.060）。在总体人群中，进行肌电图或肺活量测定与诊断延迟较长有关：优势比分别为1.13；95%置信区间1.02至1.24；以及优势比为1.13；1.03至1.24，可能是由于初始症状不具特异性。
CA是一种具有多种表现的疾病，尽管医学界的认识有所提高，但不同的一线专科医生导致了诊断过程的波折。它需要多学科专科护理网络来教育和管理症状及治疗。
