Corrales-Medina Fernando F, Fraga Kelli, D'Almeida Bastos Maria, Rafique Amina, Kempton Christine L, Vijayvargia Pooja, Davis Joanna A, Kronenfeld Rachel S
Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Miami-Miller School of Medicine, Miami, Florida, USA.
University of Miami-Hemophilia Treatment Center, Miami, Florida, USA.
Haemophilia. 2024 Nov;30(6):1422-1428. doi: 10.1111/hae.15128. Epub 2024 Nov 27.
The needs of haemophilia carriers (HC) have been historically overlooked. It is now recognised that HC manifests bleeding symptoms, including haemarthrosis. The natural history of joint health in HC is not yet defined.
A multi-institutional cross-sectional study aimed to evaluate the characteristics of joint disease in HC, aged 18-40 years, compared to age-matched controls.
The carrier cohort included females with confirmed HC status. Controls had no personal or family history of bleeding disorders. All females with a history of joint trauma or surgery within 12 months or any history of joint replacement were excluded. Joint health was assessed by clinical history, Haemophilia Joint Health Score (HJHS) and point-of-care musculoskeletal ultrasonography (POC-MSKUS).
Thirty HC and 30 controls were enrolled. For HC, the median factor activity level was 52% (range 17%-100%). Carriers, regardless of baseline factor activity levels, reported higher prevalence of chronic joint pain (p < .001) and swelling (p = .002) than controls. Heavy menstrual bleeding, epistaxis, gingival bleeding and easy bruising were also more prevalent in HC (p < .001). Despite HC having a higher median HJHS score (5 vs. 0, p < .001), no differences were observed when using POC-MSKUS. HC with a body mass index ≥25 mg/m reported more haemarthrosis (p = .037).
HC are at increased risk of joint-related symptoms and poorer joint health than age-matched controls. Dedicated follow-up to prevent and treat joint disease in HC is imperative. This study is also a call for additional investigation to clarify the association, or lack thereof, between factor activity and joint disease.
血友病携带者（HC）的需求在历史上一直被忽视。现在人们认识到HC会出现出血症状，包括关节积血。HC关节健康的自然史尚未明确。
一项多机构横断面研究旨在评估18至40岁的HC与年龄匹配的对照组相比的关节疾病特征。
携带者队列包括确诊为HC状态的女性。对照组无个人或家族出血性疾病史。所有在12个月内有关节创伤或手术史或任何关节置换史的女性均被排除。通过临床病史、血友病关节健康评分（HJHS）和即时肌肉骨骼超声检查（POC-MSKUS）评估关节健康。
招募了30名HC和30名对照。对于HC，因子活性水平的中位数为52%（范围17%-100%）。携带者，无论基线因子活性水平如何，报告的慢性关节疼痛（p<0.001）和肿胀（p=0.002）患病率均高于对照组。月经过多、鼻出血、牙龈出血和易瘀伤在HC中也更常见（p<0.001）。尽管HC的HJHS评分中位数较高（5比0，p<0.001），但使用POC-MSKUS时未观察到差异。体重指数≥25mg/m的HC报告的关节积血更多（p=0.037）。
与年龄匹配的对照组相比，HC患关节相关症状的风险增加，关节健康状况较差。必须对HC进行专门的随访以预防和治疗关节疾病。本研究也呼吁进行更多调查以阐明因子活性与关节疾病之间的关联或缺乏关联。
