The Role of High Frequency Ultrasound in Early Detection of Joint Disease in Patients with Haemophilia

Abstract

Hemophilia A; is an X-linked bleeding disorder attributed to the deficiency of clotting factor VIII (FVIII) ;presenting with recurrent, spontaneous bleeding episodes most commonly involving the index joints (ankles, knees and elbows) starting early in the life of the severe patients (FVIII <1%), with subsequent development of hemophilic arthropathy (HA) (Ligocki et al., 2017). Accurate evaluation of joint condition is a prerequisite for appropriate individualized therapeutic approach, starting from staging the joint damage, going through FVIII prophylaxis, physiotherapy, follow- up and finally into assessing the outcomes of replacement therapy (Chung et al., 2017), however, a gap continues to exist in our ability to detect and impact disease sequel at the preclinical or asymptomatic phase when the disease process is early and potentially reversible (Bakeer and Shapiro, 2019). Considering that the assessment of HA is a continually evolving process and may be particularly challenging in children and young adults in whom joint disease may be missed or underestimated, obtaining serial “baseline” magnetic resonance imaging (MRI) scans (Gold standard) of multiple clinically asymptomatic or nearly asymptomatic joints may be unjustifiable and cost-ineffective. Thus, musculoskeletal ultrasound- particularly, point-of-care musculoskeletal ultrasound (POC MSK-US) -has emerged as a promising imaging modality for the early detection and management of HA, and for the evaluation of haemarthrosis and painful musculoskeletal episodes in PwH (Bakeer and Shapiro, 2019). Improvements in US technology enabled quick evaluation of the six mostly affected joints in a single study, opened new perspectives in the management of PwH, promoting easy readily available and possibly applicable baseline and follow up joint scanning protocols for continuous monitoring and evaluating the therapeutic response in the pre-clinical asymptomatic phase of joint affection, escaping deterioration and progression of joint disease for as far as the recent advances can provide (Plut et al., 2020).