Rapid, High Resolution Joint Ultrasound Reveals Frequent Discrepancies in the Clinical Management of Painful Joint and Tissue Events in Symptomatic Adults with Hemophilia

There is little objective information about intra-articular bleeding patterns in progressive hemophilic arthropathy. When hemophiliacs present with joint pain or suspected tissue bleeding, clinical decisions are routinely based on subjective symptoms and findings including pain, decreased range of motion (ROM), warmth and swelling. These presentations are non-specific and may occur with bleeding or inflammation in hemophilic arthropathy. We hypothesized that routine clinical assessment is unreliable for diagnosis and management of joint pain in adult hemophiliacs, and that introduction of rapid, objective musculoskeletal ultrasound (MSKUS) imaging might differentiate intra-articular bleeds vs joint inflammation, and intra-muscular bleeds vs other regional pain syndromes.

Rapid MSKUS as ‘point of care’ testing at our Center in assessment of adult hemophiliacs with symptomatic joint or muscle pain. We used the GE Logiq e BT11 US-module with high frequency 8–13 MHz linear transducer and real time spatial compound imaging capability (resolution 135 um, comparable to T3MRI). Standardized imaging protocols (Querol F et al; Haemophilia 2012; 18:3;215–226) served to obtain gray scale (B-mode) and power Doppler examination. This technique can detect joint effusions as small as physiological amounts of joint fluid.

Fifteen spontaneous, non-traumatic painful episodes in 11 adults with hemophilia were evaluated (6 ankle, 7 knee, 2 muscle). Twelve of the 15 episodes were reported by the patient as bleeding and 3 as arthritis. Of 10 episodes of patient-perceived joint bleeding, only 3 were confirmed by US. One muscle bleed with a 2 inch increase in thigh circumference, indurated swelling and pain was rediagnosed as meralgia paresthetica without bleeding by US evaluation. The other 7 episodes of patient-perceived joint bleeding were due to synovitis (synovial thickening/swelling, synovial and joint fat pad hyperemia on power Doppler, and with or without simple effusion). In contrast, 2 of 3 perceived arthritis flares were reclassified as bleeds. Physician assessment of pain etiology was incorrect in 8 of 15 instances. Swelling, warmth and loss of ROM were present in 3 of 6 confirmed bleeding episodes, and in 6 of 9 confirmed non-bleeding episodes. In 3 of 6 confirmed bleeding episodes, simultaneous plasma factor activities were 5%, 8%, 28%. US findings led to a change of treatment in 14 of 15 episodes. Intensified clotting factor infusions for acute treatment or initiation/intensification of prophylaxis were started in 6 instances. Discontinuation or decrease of clotting factor and/or addition of joint steroid injections, anti-inflammatories or pain management were initiated in 8 instances. Patients reported major improvements in pain, swelling or ROM in 11 of 14 instances when management changed.

We report significant discrepancies between MSKUS findings and patient/physician perceived classification of (sub)acute pain as bleeding, arthritis or intra-muscular bleed. Patients and physicians misclassified pain etiology for the majority of episodes based on symptoms and physical findings. Swelling, warmth and loss of ROM were present in approximately half of either confirmed bleeding or arthritic episodes, demonstrating that these findings are clinically not reliable. MSKUS-confirmed bleeding was present in half of the patients at plasma factor levels usually thought to protect against spontaneous bleeding. MSKUS changed treatment decisions for almost all episodes with prompt symptom relief in most patients. Results from this pilot study indicate that our understanding of symptoms and progression of adult hemophilic arthropathy, including protective clotting factor levels, is rudimentary. The current practice of prescribing clotting factor or conservative measures based on patient and physician perception alone is inadequate and may compromise outcomes for the rapidly growing adult population with hemophilia. Prospective studies evaluating MSKUS for the correct diagnosis of bleeding vs arthritis and more precisely directed therapy in hemophilic arthropathy is urgently needed.

No relevant conflicts of interest to declare.