UR4609 Hémostase et Thrombose, Université Claude Bernard Lyon 1, Lyon, France.
Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Team « Vascular Biology and Red Blood Cell, Université Claude Bernard Lyon 1, Université de Lyon, Lyon, France.
Int J Rheum Dis. 2024 Feb;27(2):e15061. doi: 10.1111/1756-185X.15061.
Hemophilia is a rare constitutional bleeding disorder due to a deficiency in Factor VIII or Factor IX. Recurrent hemarthroses, one of the major complications of the disease, lead to hemophilic arthropathy, a disabling condition that requires early diagnosis. Traditionally, clinical examination and plain film radiography have been used to diagnose hemophilic arthropathy. Magnetic resonance imaging (MRI) and ultrasound can be more useful for diagnosing soft-tissue changes. However, but each of these methods has limitations and diagnosis of arthropathy can be delayed.
The aim of this project was to assess plasmatic biomolecules indicative of osteo-cartilaginous damage in patients with hemophilia with or without known arthropathy, in order to improve the diagnosis of this major complication of the disease.
In this monocentric retrospective study, 40 patients with hemophilia A or B, for whom a plasma sample was available, provided informed consent for further analyses (multiplex immunoassays and ELISA) and collection of relevant clinical information in their medical files. Correlations were sought for between biomarkers of interest and the severity of joint lesions assessed according to Pettersson's radiologic score.
Two biomarkers were identified, respectively SDF-1α and COMP. Their plasmatic levels were significantly increased in patients with arthropathy compared to controls and patients without arthropathy. These values correlated significantly with the Pettersson score in patients under regular prophylaxis.
Two plasma biomarkers have been identified that could help assess the presence and severity of hemophilic arthropathy.
血友病是一种罕见的遗传性出血性疾病，由于因子 VIII 或因子 IX 的缺乏导致。复发性关节积血是该疾病的主要并发症之一，可导致血友病性关节病，这是一种致残性疾病，需要早期诊断。传统上，临床检查和普通 X 线摄影用于诊断血友病性关节病。磁共振成像（MRI）和超声检查可能更有助于诊断软组织变化。然而，这些方法都有局限性，关节病的诊断可能会延迟。
本项目旨在评估有或无已知关节病的血友病患者的血浆生物标志物，以改善对这种疾病主要并发症的诊断。
在这项单中心回顾性研究中，40 名血友病 A 或 B 患者提供了知情同意，进一步分析（多重免疫测定和 ELISA）并收集其病历中的相关临床信息。对有或无关节病的患者的生物标志物与根据 Pettersson 放射评分评估的关节损伤严重程度之间的相关性进行了研究。
确定了两种生物标志物，即 SDF-1α 和 COMP。与对照组和无关节病患者相比，关节病患者的这两种标志物的血浆水平明显升高。在接受常规预防治疗的患者中，这些值与 Pettersson 评分显著相关。
已经确定了两种血浆生物标志物，它们可以帮助评估血友病性关节病的存在和严重程度。
