ASH 2025 | Musculoskeletal ultrasound evaluation of joint health status & bleeding phenotype in hemophilia A/B

So we undertook a single-center study looking at all of our patients’ joint health by various metrics, including musculoskeletal ultrasound, physical assessment scoring, and then also looking at their historical bleeding by the ISTH and self-BAT score, as well as a Beighton and hypermobility scoring, really trying to get as comprehensive a look at joint health as we could in our patients. And then we evaluated 101 of our patients, and then at an interval year follow-up, we were able to evaluate another 93 of them, or 91 rather. And the remarkable things that we found were that there was quite a heterogeneous mix of joint health in patients with mild, moderate, or severe hemophilia. So a little bit surprising that some patients in that year interval, their joints got better, some got worse, some stayed the same. And there was not really a correlation with their bleeding phenotype. In fact, when you look at their annualized bleeding rate and their annualized joint bleed rate over the course of a year, most of them were very well controlled. I believe our mean and median were around one or two for the bleeds they experienced. But nevertheless, you know, there was a quite heterogeneous finding, which we hypothesized could be due to the fact that there may be more plasticity in the joints and the bone and the cartilage, meaning that those joints could change over time. 

The other remarkable thing that we found, and I think that was kind of the most interesting finding from our study, was that some of our patients, there was a cohort, we looked at those with a zero annualized bleed rate and those with a low annualized bleed rate of one to three and found that there were a cohort of patients both with mild, moderate, and severe hemophilia that all had worsening joint disease. So this suggests some evidence for the existence of subclinical or microbleeds that we could be missing some of the clinically significant bleeds, right, so that a patient would actually treat for a bleed they may not be recognizing that, and yet they’re still having some joint health deterioration in a year time frame. So in looking at those patients, those with mild hemophilia, I believe there’s only one of the patients that was on some sort of prophylaxis, the others were not. A few of the patients with moderate hemophilia were on prophylaxis, but all of the patients with severe hemophilia were on prophylaxis. We were asked the question, you know, what prophylaxis were they on, which we will be giving further details in the publication. But, you know, they’re on the prophylaxis, well-controlled, so we think, with the available products that are on the market. So we will be doing a deeper dive looking at some of that in some of the follow-up publications that will come from the study.

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