Leuci Alexandre, Dargaud Yesim
UR4609 Hemostasis & Thrombosis Research Unit, Faculté de Médecine Lyon Est, Université Claude Bernard Lyon 1, 69008 Lyon, France.
Unité d'Hémostase Clinique-Centre de Référence de l'Hémophilie, Hôpital Louis Pradel Hospices Civils de Lyon, 69002 Lyon, France.
J Clin Med. 2023 Dec 30;13(1):225. doi: 10.3390/jcm13010225.
Haemophilic arthropathy (HA) is one of the most serious complications of haemophilia. It starts with joint bleeding, leading to synovitis which, in turn, can cause damage to the cartilage and subchondral bone, eventually inducing degenerative joint disease. Despite significant improvements in haemophilia treatment over the past two decades and recent guidelines from ISTH and WFH recommending FVIII trough levels of at least 3 IU/dL during prophylaxis, patients with haemophilia still develop joint disease. The pathophysiology of HA is complex, involving both inflammatory and degenerative components. Early diagnosis is key for proper management. Imaging can detect joint subclinical changes and influence prophylaxis. Magnetic resonance imagining (MRI) and ultrasound are the most frequently used methods in comprehensive haemophilia care centres. Biomarkers of joint health have been proposed to determine osteochondral joint deterioration, but none of these biomarkers has been validated or used in clinical practice. Early prophylaxis is key in all severe haemophilia patients to prevent arthropathy. Treatment is essentially based on prophylaxis intensification and chronic joint pain management. However, there remain significant gaps in the knowledge of the mechanisms responsible for HA and prognosis-influencing factors. Better understanding in this area could produce more effective interventions likely to ultimately prevent or attenuate the development of HA.
血友病性关节病(HA)是血友病最严重的并发症之一。它始于关节出血,导致滑膜炎,进而可损害软骨和软骨下骨,最终引发退行性关节疾病。尽管在过去二十年中血友病治疗取得了显著进展,且国际血栓与止血学会(ISTH)和世界血友病联盟(WFH)最近的指南建议在预防期间FVIII谷浓度至少为3 IU/dL,但血友病患者仍会发生关节疾病。HA的病理生理学很复杂,涉及炎症和退行性成分。早期诊断是妥善管理的关键。影像学检查可检测关节的亚临床变化并影响预防措施。磁共振成像(MRI)和超声是综合血友病护理中心最常用的方法。已经提出了关节健康生物标志物来确定骨软骨关节退变情况,但这些生物标志物均未得到验证或应用于临床实践。早期预防对所有重度血友病患者预防关节病至关重要。治疗主要基于强化预防和慢性关节疼痛管理。然而,在HA的发病机制和预后影响因素方面仍存在重大知识空白。对此领域有更深入的了解可能会产生更有效的干预措施,最终有可能预防或减轻HA的发展。