Assessment of joint health in females with haemophilia: The carriers ultrasound project (CUP) study.

Introduction: The needs of haemophilia carriers (HC) have been historically overlooked. It is now recognised that HC manifests bleeding symptoms, including haemarthrosis. The natural history of joint health in HC is not yet defined.

Haemophilic arthropathy: Diagnosis, management, and aging patient considerations.

Gene therapy and universal use of safer, more effective, and personalised prophylactic regimens (factor, and nonfactor) are expected to prevent joint bleeding and promote joint health in persons with haemophilia (PwH). Growing evidence suggests that subclinical bleeding, with active and inactive synovial proliferation, continues and haemophilic arthropathy remains a major morbidity in PwH despite early institution of joint prophylaxis. Joint health assessment is evolving with physical examination scores complementing imaging scores.

Ultrasound evaluation of hemophilic arthropathy: a proposal of definitions in a changing landscape.

The advent of novel effective treatments and the identification of the need to achieve a higher trough level for persons with hemophilia A and B have changed the landscape of management of these patients, allowing to change the target from survival and prevention of life-threatening complications to prevention of musculoskeletal complications and improvement of quality of life. Point-of-care musculoskeletal ultrasound imaging has also improved the early recognition of joint bleeding and the differential diagnosis of acute joint pain. In addition, joint ultrasound allows the evaluation of the severity of hemophilic arthropathy in terms of synovitis and cartilage and bone damage.

Consistency of serial ultrasonographic joint tissue measurements by the Joint Activity and Damage Exam (JADE) protocol in relation to hemophilic joint health parameters.

Objectives: The Joint Activity and Damage Exam (JADE) is a point-of-care (POC) musculoskeletal ultrasound (MSKUS) protocol for non-radiologists to evaluate hemophilic arthopathy. Our aim was to determine the consistency of cross-sectional analyses of direct tissue measurements (JADE protocol) and clinical Hemophilia Joint Health Score [HJHS] and functional joint assessments (arc) at three clinic visits.

Methods: We prospectively studied adults (n = 44) with hemophilia (A or B) of any severity and arthropathy at 3 North American sites.

Postoperative bleeding adversely affects total knee arthroplasty outcomes in hemophilia.

Background: Hemophilic arthropathy can result in severe degenerative arthritis and functional limitations in the knees of relatively young patients. Total knee arthroplasty (TKA) provides pain relief and gain of function in advanced-stage hemophilic arthropathy cases. However, little is known about the long-term effects of early major postoperative bleeding (MPOB) in people with hemophilia (PWH).

The musculoskeletal manifestations of haemophilia: a review of the imaging findings.

Haemophilia is a common hereditary cause of bleeding diathesis and the musculoskeletal system is frequently affected. Repeated episodes of haemarthrosis initiate a cascade towards haemophilic arthropathy, a disabling and deforming joint disease with both degenerative and inflammatory features, which include articular cartilage loss, bone erosions, and synovitis. Haemophilic pseudotumour and intra-muscular haematoma make up the remainder of the musculoskeletal manifestations of this systemic condition.

Teleguidance for Patient Self-Imaging of Hemophilic Joints Using Mobile Ultrasound Devices: A Pilot Study.

Background: Teleguidance on portable devices opens the possibility of joint self-imaging in persons with hemophilia (PWH).

Aims: Determine the feasibility of patient self-imaging with/without teleguidance.

Methods: Adult PWH received ultrasound teaching including 11 views for hemarthrosis detection in ankles, elbows, and knees.

Gait Alteration Due to Haemophilic Arthropathies in Patients with Moderate Haemophilia.

Some patients with moderate haemophilia (PWMH) report joint damage potentially responsible for gait disorders. Three-dimensional gait analysis (3DGA) is a relevant tool for the identification of complex musculoskeletal impairment. We performed an evaluation with 3DGA of 24 PWMH aged 44.

Patient-derived assessment tool using musculoskeletal ultrasound for validation of haemarthrosis.

Introduction: Haemophilia patients experience painful joint episodes which may or may not be associated with haemarthrosis. We sought to validate a questionnaire developed by the Canadian Haemophilia Society using point-of-care musculoskeletal ultrasound (POC MSKUS) to confirm haemarthrosis.

Methods: The questionnaire comprised of 20 questions (10 each associated with haemarthrosis and arthritis pain) and was administered to adult haemophilia patients reporting to the Haemophilia Treatment Centre (University of California San Diego).

Diagnosis and treatment of chronic synovitis in patients with haemophilia: consensus statements from the Italian Association of Haemophilia Centres.

Although synovitis is recognized as a marker of joint disease activity, its periodic assessment is not included in routine clinical surveillance of patients with haemophilia (PwH). In order to evaluate the current knowledge and to identify controversial issues, a preliminary literature search by the Musculoskeletal Committee of the Italian Association of Haemophilia Centres (AICE) has been conducted. Statements have been established and sent to the Italian AICE members to collect their level of agreement or disagreement by a Delphi process.

Quantitative measurements of haemophilic joint tissues by point-of-care musculoskeletal ultrasound: Associations with clinical and functional joint outcome parameters.

Background: Painful arthropathy is a long-term complication in patients with hemophilia (PWH), affecting mobility and quality of life. A major barrier for the appraisal of joint health is the absence of point-of-care (POC) imaging modalities to promptly identify and manage arthropathic changes. Accordingly, we developed the Joint tissue Activity and Damage Exam (JADE) POC musculoskeletal ultrasound (MSKUS) protocol.

Morphological variation of the hemophilic talus.

Flattening of the trochlear tali is clinically observed as structural and functional changes advance in patients with hemarthropathy of the ankle. However, the degree of this flattening has not yet been quantified, and distribution of the morphological changes across the talus not yet defined. Chronologically sequential MR images of both a hemophilic patient group (N = 5) and a single scan from a nondiseased, sex-matched, control group (N = 11) were used to take four measurements of the trochlear talus morphology at three locations (medial, central and lateral) along the sagittal plane.

Correlation between Hemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score and Hemophilia Joint Health Score (HJHS) in patients with hemophilic arthropathy.

Background: Hemophilic arthropathy, a condition manifested as joint destruction due to spontaneous joint bleeding, is one complication of hemophiliac patients. Early detection and intervention may improve the outcome, in which ultrasonography can be an ideal modality with the introduction of HEAD-US (Hemophilia Early Arthropathy Detection with Ultrasound) protocol. Studies have shown US benefit in hemophiliac patients, including its potential as an alternative for the Hemophiliac Joint Health Score (HJHS) system.

Complications of hemophilia in the elbow: current management.

Introduction: After the ankle and knee, the elbow is the most commonly impaired joint in patients with hemophilia.

Areas Covered: A Cochrane Library and PubMed (MEDLINE) search related to elbow problems in hemophilia was conducted. Early and continuous primary hematological prophylaxis (ideally starting in infancy) is essential, given that the juvenile elbow is highly prone to the musculoskeletal complications of hemophilia.

Acquired multi-segment foot kinematics in haemophilic children, adolescents and young adults with or without haemophilic ankle arthropathy.

Introduction And Aim: The ankle joint remains vulnerable in children with haemophilia and is the primary joint affected. The purpose of this study was to dynamically characterize the segmental foot and ankle kinematics of male children, adolescents and young adults with or without ankle arthropathy.

Methods: The barefoot multi-segment foot kinematics of 70 ankles from 35 haemophilia subjects between 6 and 20 years old were captured with the Rizzoli Multi-Segment Foot Model.

Use of ultrasound for assessment of musculoskeletal disease in persons with haemophilia: Results of an International Prophylaxis Study Group global survey.

Aim: The objective of this survey was to understand the global trends of imaging assessments in persons with haemophilia, focusing on point-of-care ultrasound (POCUS). Insights into the barriers impeding its widespread proliferation as a frontline imaging modality were obtained.

Methods: The survey opened in September of 2017 and closed in May of 2018.

The biomechanical behaviour of ankle and foot joints during walking with shoes in patients with haemophilia.

Introduction: Patients with haemophilia (PwH) often prefer shod walking over barefoot walking as footwear offers ankle joint stability and comfort during gait. Yet, the biomechanical mechanisms contributing to the latter remain poorly understood.

Aim: To explore the effect of shoes on the biomechanical functioning of the ankle and foot complex in PwH with and without haemophilic ankle arthropathy and to determine the amount of ankle joint loading during shod walking.

Clinical gait features are associated with MRI findings in patients with haemophilic ankle arthropathy.

Introduction: Haemophilic ankle arthropathy due to repeated joint bleeds often leads to altered gait in adult patients with haemophilia.

Aim: To investigate the association between clinical gait features and blood-induced ankle joint damage scored using MRI findings in patients with haemophilic ankle arthropathy.

Methods: This observational study investigated 48 ankles of 24 patients with severe haemophilia (median age of 33 years).

Age-related severity and distribution of haemophilic arthropathy of the knee, ankle and elbow among Chinese patients with haemophilia.

Introduction And Aims: Age-related severity and distribution of haemophilic arthropathy (HA) among Chinese patients with haemophilia using the Haemophilia Early Detection with Ultrasound (HEAD-US) system have not been extensively studied.

Methods: In our study, 89 patients with moderate and severe haemophilia were recruited. A total of 534 joints (knees, ankles and elbows on both sides included) were evaluated using musculoskeletal ultrasound (MSKUS) and scored using the HEAD-US system.

Unusual olecranon mass with ulnar nerve compressive neuropathy caused by a haemophilic pseudotumour.

A 55-year-old man with a history of haemophilia A and bilateral haemophilic arthropathy of the elbows presented with an enlarging left elbow mass and worsening paresthesias in the ulnar distribution of the left hand. The mass, originally thought to be olecranon bursitis and treated as such, was found to be due to a haemophilic pseudotumour. The patient underwent successful excision of the haemophilic pseudotumour with concomitant ulnar nerve decompression and had sustained resolution of the pseudotumour and symptoms at 10 years of follow-up.

Merging into the mainstream: the evolution of the role of point-of-care musculoskeletal ultrasound in hemophilia.

Bleeding with resultant hemophilic arthropathy constitutes the largest cause of morbidity in patients with hemophilia. It results from repeated bleeding episodes in the joint and is characterized by synovial hypertrophy and cartilage and bony destruction. Hemophilic arthropathy assessment is a continually evolving process and is particularly challenging in children and young adults in whom joint disease may be missed or underestimated as obtaining serial "baseline" magnetic resonance imaging scans of multiple clinically asymptomatic or nearly asymptomatic joints may be unjustifiable and cost-ineffective.

Joint Bleeding Tendencies in Adult Patients With Hemophilia: It's Not All Pharmacokinetics.

Hemophilic arthropathy from joint bleeding remains a complication with major morbidity in the increasingly aging patients with hemophilia. Prophylactic clotting factor infusions, based on pharmacokinetic dosing to reduce bleeding rates, are being explored more and more. However, there is little evidence on the benefits of pharmacokinetic dosing in direct association with bleeding events.

Advanced magnetic resonance imaging of cartilage components in haemophilic joints reveals that cartilage hemosiderin correlates with joint deterioration.

Introduction: Evidence suggests that toxic iron is involved in haemophilic joint destruction.

Aim: To determine whether joint iron deposition is linked to clinical and imaging outcomes in order to optimize management of haemophilic joint disease.

Methods: Adults with haemophilia A or haemophilia B (n = 23, ≥ age 21) of all severities were recruited prospectively to undergo assessment with Hemophilia Joint Health Scores (HJHS), pain scores (visual analogue scale [VAS]) and magnetic resonance imaging (MRI) at 3T using conventional MRI protocols and 4-echo 3D-UTE-Cones sequences for one affected arthropathic joint.

Acute Swollen Calf Pain With a Diagnosis of Hemophilia Following an MRI.

Hemarthrosis is a common musculoskeletal presentation in hemophilia. Intramuscular bleed is not uncommon. We report a young child who had a minor injury and calf swelling.