Boccalandro Elena Anna, Pasca Samantha, Begnozzi Valentina, Gualtierotti Roberta, Mannucci Pier Mannuccio
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, 20122 Milan, Italy.
Biomedical Sciences Department (DSB), Padua University Hospital, 35131 Padua, Italy.
J Clin Med. 2023 Oct 22;12(20):6672. doi: 10.3390/jcm12206672.
Hemophilia is an inherited hemorrhagic disorder; its main clinical manifestations being bleeding in muscles and joints. Ankles, knees, and elbows are the most frequently affected joints, followed by shoulders and hips. The clinical signs of joint involvement are reduced mobility, swelling and walking difficulties. Bleeding episodes in patients with hemophilia are usually divided into traumatic and spontaneous, but we believe that the latter are not truly spontaneous but rather the result of joint stresses owing to motion actions that create dysfunctions starting from infancy. Pharmacological prophylaxis with factor replacement therapies or non-replacement drugs markedly reduces musculoskeletal hemorrhages. However, the onset of subclinical joint stress can be reduced only by associating this therapeutic approach with the accurate observation of the child motion patterns and restoring them if dysfunctional, thereby primarily preventing subclinical bleeding and ultimately the onset or progression of hemophilic arthropathy.
血友病是一种遗传性出血性疾病;其主要临床表现为肌肉和关节出血。踝关节、膝关节和肘关节是最常受累的关节,其次是肩关节和髋关节。关节受累的临床体征为活动度降低、肿胀和行走困难。血友病患者的出血发作通常分为创伤性和自发性,但我们认为后者并非真正的自发性,而是由于从婴儿期开始的运动动作导致关节功能障碍所产生的关节应力的结果。使用因子替代疗法或非替代药物进行药物预防可显著减少肌肉骨骼出血。然而,只有将这种治疗方法与准确观察儿童运动模式并在功能失调时恢复这些模式相结合,才能减少亚临床关节应力的发生,从而主要预防亚临床出血,并最终预防血友病性关节病的发生或进展。