McLaughlin Paul, De la Corte-Rodriguez Hortensia, Burke Tom, Nissen Francis, Aizenas Martynas, Moreno Katya, O'Hara Jamie
The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK.
Department of Physical and Rehabilitation Medicine, La Paz University Hospital (IdiPaz), Madrid, Spain.
Orphanet J Rare Dis. 2025 Jan 13;20(1):18. doi: 10.1186/s13023-024-03514-1.
Clinical research has offered many definitions and fragmented perspectives of joint morbidity in haemophilia. As joint damage, pain and mobility impairment can be present without clinical record of persistent bleeding, a person-centric joint morbidity characterisation remained a priority for the haemophilia community, giving rise to the 'problem joint' concept. As diagnosing and managing joint morbidity is critical, the aim of this study was to analyse the holistic burden of problem joints in people with moderate or severe haemophilia A (HA). Data from the 'Cost of Haemophilia in Europe: a Socioeconomic Survey' (CHESS) cross-sectional studies were used. CHESS-Paediatrics included male paediatric patients (≤ 17 years) with congenital moderate or severe haemophilia, while CHESS II included adult males (≥ 18 years) of any severity. Both studies sought to collect detailed information on the clinical, economic and humanistic burden of haemophilia. Demographics, clinical outcomes, treatment regimen, adherence, physical activity, healthcare resource use and number of problem joints were evaluated and described by HA severity and number of problem joints (none, 1, ≥ 2).
In total, 1171 people with non-inhibitor moderate or severe HA from CHESS-Paediatrics (n = 703) and CHESS II (n = 468) were included in this analysis. Presence of problem joints was more prevalent among CHESS II participants (44%) than in CHESS-Paediatrics (14%). Around two-thirds (67%) of CHESS-Paediatrics and 39% of CHESS II participants received prophylactic factor VIII replacement therapy. The presence of chronic pain was greater in severe HA with ' ≥ 2' problem joints in both cohorts. Clinical symptoms and bleed-related hospitalizations were more prevalent in the presence of problem joints regardless of HA severity in both cohorts.
This analysis of the CHESS population studies has expanded on previous work by examining the relevance of the problem joint measure of haemophilic morbidity and its associated burden. Adverse clinical symptoms and increased bleed-related hospitalizations were observed in the presence of problem joints in both children/adolescents and adults across HA severities. Use of person-centric characterizations of joint morbidity may improve analysis of long-term outcomes and lead to improvements in future haemophilia care.
临床研究提出了关于血友病关节并发症的多种定义和零散观点。由于关节损伤、疼痛和活动能力受损可能在无持续性出血临床记录的情况下出现，以患者为中心的关节并发症特征描述仍是血友病群体的首要任务，由此产生了“问题关节”的概念。鉴于诊断和管理关节并发症至关重要，本研究旨在分析中度或重度甲型血友病（HA）患者中问题关节的整体负担。使用了来自“欧洲血友病成本：社会经济调查”（CHESS）横断面研究的数据。CHESS - 儿科研究纳入了患有先天性中度或重度血友病的男性儿科患者（≤17岁），而CHESS II研究纳入了任何严重程度的成年男性（≥18岁）。两项研究都试图收集有关血友病临床、经济和人文负担的详细信息。通过HA严重程度和问题关节数量（无、1个、≥2个）对人口统计学、临床结局、治疗方案、依从性、身体活动、医疗资源使用和问题关节数量进行评估和描述。
本分析共纳入了1171例来自CHESS - 儿科研究（n = 703）和CHESS II研究（n = 468）的无抑制物的中度或重度HA患者。CHESS II参与者中问题关节的存在比CHESS - 儿科研究中更普遍（44%比14%）。约三分之二（67%）的CHESS - 儿科研究参与者和39%的CHESS II研究参与者接受了预防性因子VIII替代治疗。在两个队列中，患有“≥2个”问题关节的严重HA患者中慢性疼痛的发生率更高。在两个队列中，无论HA严重程度如何，问题关节存在时临床症状和与出血相关的住院更为普遍。
对CHESS人群研究的这项分析通过检查血友病发病率的问题关节测量指标及其相关负担的相关性，扩展了先前的研究工作。在不同HA严重程度的儿童/青少年和成人中，问题关节存在时均观察到不良临床症状和与出血相关的住院增加。使用以患者为中心的关节并发症特征描述可能会改善对长期结局的分析，并导致未来血友病护理的改善。
