Gooding Richard, Thachil Jecko, Alamelu Jayanthi, Motwani Jayashree, Chowdary Pratima
Leicester Haemophilia Centre, Haemostasis & Thrombosis Unit, Leicester Royal Infirmary, Leicester, UK.
Haematology Department, Manchester Royal Infirmary, Manchester, UK.
J Blood Med. 2021 Apr 1;12:209-220. doi: 10.2147/JBM.S304597. eCollection 2021.
Joint health is a key contributor to quality of life in patients with hemophilia. However, variables that impact long-term joint outcomes have not been comprehensively defined. A systematic literature search identified publications relating to joint health in patients with hemophilia. Studies clearly show that early, sustained prophylaxis with factor replacements improves long-term joint outcomes. However, a subset of patients appear to develop arthropathy despite maintaining excellent bleeding outcomes, which suggests possible recurrent asymptomatic bleeding into the joints in these patients. Furthermore, limited data are available on how long-acting factor VIII and factor IX replacement therapies could impact long-term joint outcomes. Many variables were identified as potential indicators that a patient may develop hemophilic arthropathy, including genetic mutations, endogenous factor VIII and IX levels, bone health, and physical activity levels. Tools for the diagnosis and monitoring of hemophilic arthropathy are critical to detect early joint damage, so that management can be adjusted accordingly. Imaging techniques, particularly magnetic resonance imaging, can detect synovial changes, a strong predictor for the future development of hemophilic arthropathy. In addition, several biomarkers associated with cartilage and bone formation, vascularization, and angiogenesis could potentially identify the onset and progression of early joint damage. Since the development of hemophilic arthropathy is complex, a comprehensive therapeutic approach is necessary for the effective prevention of arthropathy in patients with hemophilia.
关节健康是血友病患者生活质量的关键影响因素。然而，影响长期关节预后的变量尚未得到全面界定。一项系统的文献检索确定了与血友病患者关节健康相关的出版物。研究清楚地表明，早期持续使用凝血因子替代疗法进行预防可改善长期关节预后。然而，尽管部分患者保持了良好的出血控制效果，但仍有一部分患者出现了关节病，这表明这些患者可能存在关节反复无症状出血的情况。此外，关于长效凝血因子VIII和凝血因子IX替代疗法对长期关节预后的影响，目前的数据有限。许多变量被确定为患者可能发生血友病性关节病的潜在指标，包括基因突变、内源性凝血因子VIII和IX水平、骨骼健康以及身体活动水平。血友病性关节病的诊断和监测工具对于早期发现关节损伤至关重要，以便据此调整治疗方案。成像技术，尤其是磁共振成像，能够检测滑膜变化，而滑膜变化是血友病性关节病未来发展的有力预测指标。此外，几种与软骨和骨形成、血管生成及血管新生相关的生物标志物可能有助于识别早期关节损伤的发生和进展。由于血友病性关节病的发展较为复杂，因此需要采取综合治疗方法来有效预防血友病患者的关节病。
