Assessment of Joint Health in Children with Haemophilia - Results of the German Energy Study

Objectives: Since bleeds, especially in joints lead to joint arthropathy in haemophilia patients, even in young children, we wanted to determine the impact of bleeding events on the joint health of children with haemophilia.

Methods: Children with haemophilia aged 0–17 years of any type of severity and treatment regimen from a single HTC center in Duisburg, Germany were compared with healthy children recruited from the environment of the Duisburg HTC. Joint structure and function was measured with the Haemophilia Joint Health Score (HJHSv2.1) and subjective physical functioning was assessed with the HEP-Test-Q. In addition, ultrasound (US) was performed based on the Joint Tissue Examination and Damage Exam (JADE) Protocol. Clinical data of haemophilia patients were collected from patient records. Differences were calculated between children with haemophilia and healthy controls and between haemophilia patients across different clinical subgroups.

Results: Forty-six children with haemophilia (mean age 9.1 ± 5 years) and 59 healthy children (mean age 8.5 ± 4.7 years) participated in the Energy Study. The majority of the haemophilic children had haemophilia A (91.3%), were severely affected (60.9%) and received prophylactic treatment (69.6%), most of them were on secondary prophylaxis (53.1%). Haemophilia patients had in average 1.57 ± 1.9 total bleeds (range 0–9) and 0.65 ± 1.2 joint bleeds (range 0–6) in the past 12 months, a HJHS of 2.39 ± 3.8 (range 0–13). 43.5% had a target joint, mainly in the ankles. Most of the children with haemophilia participated in physical education in school (58.7%), mainly 1x/week (72.4%). Almost one quarter received physiotherapy (23.9%); only 2 patients had limitations in their mobility.

Only children ≥ 6 years of age completed the self-rated HEP-Test-Q, resulting in 33 haemophilia patients and 45 controls. Patients treated on prophylaxis (p < 0.015), severely affected (p < 0.001), with joint impairments in the HJHS ≥ 1 (p < 0.022), number of joint bleeds ≥ 1 (p < 0.029), number of total bleeds ≥ 2 (p < 0.0001), showed a worse total score in the HEP-Test-Q compared with children on-demand, with moderate/mild haemophilia, no impairment in HJHS, no joint bleeds, < 2 total bleeds, respectively.

Patients reported significantly worse subjective physical functioning (M_P=77.16 ± 9.5 versus M_C=86.0 ± 7.1; p < 0.0001), had a worse HJHS (p < 0.0001) and showed in the US a significant difference (p < 0.02) of the longitudinal gap been tibia and talus. compared with controls.

Conclusions: Children with haemophilia showed higher deterioration in their joint health and reported higher impairments in their subjective physical functioning than healthy controls. Although 96.4% of severe patients were on regular prophylaxis, early signs of synovitis were detected, especially in the ankle. Patients with haemophilia should be monitored early for arthropathy using US and standardized and validated measures such as the HJHS and the HEP-Test-Q.

No conflict of interest has been declared by the author(s).