Magnetic resonance imaging and ultrasound evaluation of “healthy” joints in young subjects with severe haemophilia A

Abstract

Magnetic resonance imaging (MRI) and ultrasonography (US) are increasingly used in haemophilia A (HA) to detect early joint changes. A total of 40 clinically asymptomatic joints, never involved by bleeding events ["healthy joints" (HJ)], were evaluated by MRI and, in parallel, by US in 20 young subjects with severe HA (22.45 ± 2.72 years old; no history of arthritides, of viral infections or of inhibitors against factor VIII). The same joints were evaluated in 20 matched non-haemophilic (no-HA) subjects (mean age 23.90 ± 2.31 years, P = 0.078 vs. HA subjects). US images were obtained with specific probe positions according to validated procedures. A validated US score and progressive (P-MRI) and additive (A-MRI) MRI scores were employed for data collection and analysis. The US score was higher in HA than in no-HA subjects (3.40 ± 1.72 vs. 0.80 ± 1.10, P < 0.001). Taking into account only moderate/severe alterations, joint effusion was found in 55% of HA and in 5% of no-HA joints (P < 0.001); synovial hypertrophy was found in 20% of HA and in none of the no-HA joints; cartilage erosion was found in 30% of HA and in none of no-HA joints. MRI examinations confirmed these findings and the US score correlated with the A-MRI (r = 0.732, P < 0.001) and with the P-MRI (r = 0.598, P < 0.001) scores. MRI and US data significantly correlated as to effusion (r = 0.819, P = 0.002), synovial hypertrophy (r = 0.633, P = 0.036) and cartilage erosion (r = 0.734, P = 0.010). Despite inherent limitations, joint US examination identified subclinical abnormalities of HJ in young subjects with severe HA.

Haemophilia A carriers demonstrate pathological and radiological evidence of structural joint changes

“…Sluiter et al evaluated 120 joints in 30 healthy adult men with frequent sports participation (≥4 times a week), and found no instances of abnormal IPSG MRI scores [5]. Similarly, Di Minno et al reported normal joint findings utilizing both ultrasound and MRI in their normal healthy volunteers [6]. Conversely, multiple groups have reported early structural joint changes in clinically asymptomatic joints of haemophilic males.…”

Achieving the unimaginable: Health equity in haemophilia

“…22 Subclinical microbleeds further contribute to the progressive development of target joints and subsequent complications, even among PwH on prophylaxis.…”

“…,23 While prevalence TA B L E 1 Treatment model milestones of microbleeds is difficult to quantify, they are often suspected when joint abnormalities or damage is seen by MRI or ultrasound in the absence of clinically apparent bleeds. Strikingly, more than half of all asymptomatic joints show abnormal joint structure by MRI 22,24. In cases of cerebral microbleeds, detection methods are limited, and delays in diagnosis can lead to impaired cognition and hospitalization 25.…”

Tailoring of medical treatment: hemostasis and thrombosis towards precision medicine

“…Point-of-care ultrasound detection of affected joints -reliably correlating with magnetic resonance imaging detection of cartilage damage, effusion, and synovial hypertrophycarried out inside Hemophilia Centers at each patient's visit, could have major implications for the management of hemophilia patients. 46,47 Repeated evaluations of patients' joints will provide hints as to whether this strategy is worth the cost required.…”