Assessment of joint health in females with haemophilia: The carriers ultrasound project (CUP) study

Introduction: 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.

Aim: 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.

Methods: 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).

Results: 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/m² reported more haemarthrosis (p = .037).

Conclusions: 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.