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Haemophilia 2020 Mar 15;26(2):333-339. Epub 2020 Jan 15.

Clinical Motion Analysis Laboratorium (CMAL), UZ Leuven, Pellenberg, Belgium.

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). Read More

Haemophilia 2020 Jan 27;26(1):129-135. Epub 2019 Oct 27.

Department of Ultrasound Medicine, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.

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. Read More

BMJ Case Rep 2019 Sep 6;12(9). Epub 2019 Sep 6.

Department of Orthopaedic Surgery, Brigham and Women's Hospital, Boston, Massachusetts, USA.

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. Read More

F1000Res 2019 9;8. Epub 2019 Jul 9.

Indiana Hemophilia and Thrombosis Center, 8326 Naab Road, Indianapolis, IN, 46260, USA.

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. Read More

Clin Appl Thromb Hemost 2019 Jan-Dec;25:1076029619862052

1 Division of Hematology/Oncology, Department of Medicine, University of California, San Diego, San Diego, CA, USA.

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. Read More

Haemophilia 2019 Sep 14;25(5):851-858. Epub 2019 Jun 14.

Department of Radiology, University of California San Diego, San Diego, California.

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. Read More

J Pediatr Hematol Oncol 2019 10;41(7):559-560

Pediatric Hematology Oncology, University of Texas Health Science McGovern Medical School, Houston, TX.

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. Read More

Eur Spine J 2019 Oct 10;28(10):2229-2236. Epub 2019 Apr 10.

Department of Orthopaedics and Musculoskeletal Medicine, Christchurch School of Medicine, University of Otago, Christchurch, New Zealand.

Purpose: To understand the typical presentation, risk factors, location and size, treatment, neurological recovery and survival of spontaneous spinal epidural haematomas (SSEH) in children.

Methods: A systematic review of the English literature from 1 January 1960 to 1 March 2018 was performed on children aged 18 years and younger. Individual patient data were extracted and collated. Read More

Haemophilia 2019 May 13;25(3):484-492. Epub 2019 Mar 13.

Haemophilia Care and Research Center, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.

Introduction: Intra-articular platelet-rich plasma (PRP) injection therapy has been extensively applied in clinical practice to treat musculoskeletal disorders such as osteoarthritis, but the treatment for haemophilic arthropathy is rarely reported.

Aims: This study aimed to compare the efficacy of intra-articular PRP vs hyaluronic acid (HA) injections in treating haemophilic arthropathy of knee joints.

Patients: Twenty-two haemophilia patients (mean age, 41. Read More

Medicine (Baltimore) 2018 Nov;97(46):e13230

Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, China.

Magnetic resonance imaging (MRI) is currently considered the gold standard for assessing hemophilic arthropathy (HA) severity; however, MRI is often costly, time-consuming, and difficult to perform in children. In the present study, we evaluated the joint status of hemophilic patients from Shanxi Province, China, using musculoskeletal ultrasonography (MSKUS) and identified the factors that most strongly correlated with disease severity.The study included 104 patients with hemophilia, who underwent MSKUS examination. Read More

J Ultrasound Med 2019 Jun 29;38(6):1569-1581. Epub 2018 Oct 29.

Department of Medicine, Division of Hematology/Oncology, University of California, San Diego, California, USA.

Objectives: Musculoskeletal ultrasound (US) is used increasingly to examine hemophilic arthropathy. However, quantitative algorithms to document findings are lacking. We developed and sought to validate a protocol quantifying hemophilic joint abnormalities. Read More

Blood Coagul Fibrinolysis 2018 Sep;29(6):509-520

Van Creveldkliniek, UMC, Utrecht, the Netherlands.

: Early joint damage in patients with haemarthrosis often escapes diagnosis because of insufficient investigation of biomechanical changes. Arthropathy in haemophilia requires complex assessment with several tools. Considering the increased emphasis on an integrated approach to musculoskeletal (MSK) outcomes, re-evaluation of MSK assessment to address individual patient needs is warranted. Read More

Haemophilia 2018 May 30;24(3):e103-e112. Epub 2018 Mar 30.

Department of rehabilitation sciences, Musculoskeletal rehabilitation research group, KU Leuven, Leuven (Heverlee), Belgium.

Objectives: To measure passive musculoarticular ankle stiffness (PMAAS) and its intra- and interday reliability in adult control subjects without ankle disorders. We also sought to quantify PMAAS in children, adolescents and young adults with haemophilia (CAAwH) taking into account the accurate tibiotalar and subtalar joints structural status obtained by magnetic resonance imaging (MRI).

Methods: We included 23 CAAwH and 23 typically developing boys (TDB) matched by age, weight and height, along with 25 healthy volunteers for reliability assessment. Read More

J Ultrasound Med 2018 Aug 24;37(8):1945-1956. Epub 2018 Jan 24.

Radiology Service, VA San Diego Healthcare System, San Diego, California, USA.

Objectives: Point-of-care musculoskeletal ultrasound (US) is increasingly used by hemophilia providers to guide management; however, pathologic tissue differentiation with US is uncertain. We sought to determine the extent to which point-of-care musculoskeletal US can identify and discriminate pathologic soft tissue changes in hemophilic arthropathy.

Methods: Thirty-six adult patients with hemophilia A/B were prospectively enrolled. Read More

Haemophilia 2017 Sep 9;23(5):e409-e418. Epub 2017 Jul 9.

KU Leuven, Department of rehabilitation sciences, Musculoskeletal rehabilitation research group, Leuven, Belgium.

Objectives: Adequate management of haemophilia patients requires early detection of joint impairment in relatively asymptomatic patients. This study sought to quantify the impact of the ankle's structural impairment on muscle strength in children, adolescent and young adults with haemophilia (CAAwH).

Methods: Twenty-three CAAwH underwent bilateral magnetic resonance imaging (MRI) assessing the anatomical status of tibiotalar joint (TTJ) and subtalar joint (STJ) using the International Prophylaxis Study Group MRI scale. Read More

Orthopedics 2017 Nov 30;40(6):e940-e946. Epub 2017 Jun 30.

The musculoskeletal manifestations of hemophilia A and B are some of the most common presenting symptoms and continue to be challenging to practitioners. Hemophilic arthropathy, if not initially adequately treated and managed, may lead to debilitating disease and eventually require the consideration of major surgery, including total joint arthroplasty. Thorough comprehension of the pathophysiology, diagnosis, and both medical and surgical interventions is critical in establishing an appropriate treatment regimen for these patients. Read More

Thromb Haemost 2017 08 11;117(8):1465-1470. Epub 2017 May 11.

Karin van Galen, MD, University Medical Center Utrecht, Van Creveldkliniek, Heidelberglaan 100, Room C01.425, PO box 85500, 3508 GA Utrecht, The Netherlands, Tel.: +31 8 875 584 50, Fax: +31 88 75 554 38, E-mail:

Assessment of clinical outcome after joint bleeding is essential to identify joint damage and optimise treatment, to prevent disability. However, disease-specific tools to assess the musculoskeletal status in patients with von Willebrand disease (VWD) are lacking. We aimed to determine validity and reliability of the Haemophilia Joint Health Score (HJHS) and Haemophilia Activities List (HAL) in patients with Von Willebrand disease (VWD). Read More

Haemophilia 2016 Nov 26;22(6):e512-e518. Epub 2016 Oct 26.

Faculty of Health, Social Care & Education, Angela Ruskin University, Chelmsford, UK.

Introduction: The World Federation of Haemophilia recommends joint and muscle health is evaluated using X-ray and magnetic resonance imaging, together with clinical examination scores. To date, inclusion of performance-based functional activities to monitor children with the condition has received little attention.

Aim: To evaluate test-retest repeatability of physical function tests and quantify relationships between physical function, lower limb muscle strength and gait patterns in young boys with haemophilia. Read More

Haemophilia 2017 Jan 3;23(1):135-143. Epub 2016 Aug 3.

Division of Hematology/Oncology, Department of Medicine, University of California San Diego, San Diego, CA, USA.

Introduction And Objectives: Intra-articular corticosteroid injections are standard of care for managing joint pain secondary to osteoarthritis or rheumatoid arthritis but are rarely used in haemophilic arthropathy. We have introduced and evaluated the efficacy and safety of ultrasound-guided corticosteroid injections for pain relief in patients with haemophilic arthropathy.

Patients And Methods: Ultrasound-guided intra-articular injections performed on haemophilia patients at UCSD between March 2012 and January 2016 were analysed. Read More

Haemophilia 2016 Nov 7;22(6):925-933. Epub 2016 Jul 7.

Department of Haematology, Christian Medical College, Vellore, India.

Objectives: This study was undertaken to determine the correlation between the radiological changes in haemophilic arthropathy [X-ray, Ultrasound (US) and MRI] and clinical assessment as determined by the Hemophilia Joint Health Score (HJHS); and to document the US and MRI changes in joints that appear normal on plain X-ray and clinical evaluation.

Materials And Methods: Of 55 study joints (22 knees and 33 ankles) in 51 patients with haemophilia/von Willebrand disease, with a median age of 15 years (range: 5-17) were assessed using X-rays (Pettersson score) and clinical examination (HJHS) at two centres (Toronto, Canada; Vellore, India). MRI and ultrasonographic scoring was done through a consensus assessment by imagers at both centres using the IPSG MRI and US scores. Read More

Turk J Haematol 2016 Jun;33(2):88-93

Aristotle University, Hippokration Hospital, Second Propaedeutic Department of Internal Medicine, Thessaloniki, Greece, E-mail :

Haemophilia is an inherited bleeding disorder that can lead to degenerative joint arthropathy due to recurrent bleeding episodes affecting the musculoskeletal system of the patient. The cause of bleeding can be either traumatic or spontaneous. The pathogenesis of haemophilic arthropathy is unclear as many factors like iron, inflammatory cytokines, and angiogenic factors contribute to this process. Read More

Semin Hematol 2016 Jan 26;53(1):10-9. Epub 2015 Oct 26.

The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA; University of California at San Diego, Department of Medicine, San Diego, CA, USA. Electronic address:

Hemophilic arthropathy is a form of joint disease that develops secondary to joint bleeding and presents with synovial hypertrophy, cartilage and bony destruction. The arthropathy can develop despite clotting factor replacement and is especially disabling in the aging population. Pathobiological tissue changes are triggered by release of hemoglobin and iron deposition in the joint, but the sequence of events and the molecular mechanisms resulting in joint deterioration are incompletely understood. Read More

Semin Thromb Hemost 2015 Nov 19;41(8):880-93. Epub 2015 Oct 19.

Department of Medical Imaging, The Hospital for Sick Children, Toronto, Canada.

Imaging assessment is an important tool to evaluate clinical joint outcomes of hemophilia. Arthropathic changes have traditionally been evaluated by plain radiography and more recently by ultrasound and magnetic resonance imaging (MRI). Early arthropathic changes can be identified by modern imaging techniques such as T2 mapping MRI of cartilage even before clinical symptoms become apparent. Read More

Rheumatology (Oxford) 2016 Jun 5;55(6):968-81. Epub 2015 Oct 5.

Centre for Rheumatology, University College London Hospitals, London, UK

Rheumatological manifestations complicate many benign and malignant blood disorders. Significant advances in haematology, with improved diagnostic techniques and newer musculoskeletal imaging, have occurred in the past two decades. This review focuses on the interrelationship between the major haematological diseases (haemochromatosis, haemophilia, sickle cell disease, thalassaemia, leukaemia, lymphoma, myelodysplastic syndromes, multiple myeloma and cryoglobulinaemia) and rheumatic manifestations. Read More

Semin Musculoskelet Radiol 2015 Jul 28;19(3):307-18. Epub 2015 May 28.

Oxford Musculoskeletal Radiology, Oxford, United Kingdom.

The shoulder is a complex joint with numerous structures contributing to mobility and stability. Shoulder pain is a common clinical complaint that may be due to a wide spectrum of disorders including rotator cuff disease, instability, and arthropathy. Primary osteoarthritis of the shoulder joint is uncommon because it is a non-weight-bearing joint. Read More

Indian J Pediatr 2015 Dec 8;82(12):1101-6. Epub 2015 May 8.

Department of Pediatric Medicine, S.M.S. Medical College, Jaipur, India.

Objective: To evaluate the functional independence of children with hemophilia A and its correlation to radiological joint score.

Methods: The present cross sectional study was conducted at SPMCHI, SMS Medical College, Jaipur, India. Children in the age group of 4-18 y affected with severe, moderate and mild hemophilia A and with a history of hemarthrosis who attended the OPD, emergency or got admitted in wards of SPMCHI, SMS Medical College were examined. Read More

Blood 2015 Mar 23;125(13):2038-44. Epub 2015 Feb 23.

Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany.

Prophylactic application of clotting factor concentrates is the basis of modern treatment of severe hemophilia A. In children, the early start of prophylaxis as primary or secondary prophylaxis has become the gold standard in most countries with adequate resources. In adults, prophylaxis is reasonably continued when started as primary or secondary prophylaxis in childhood to maintain healthy joint function. Read More

Haemophilia 2015 Sep 16;21(5):681-5. Epub 2015 Feb 16.

Department of Orthopaedic Surgery and Traumatology, Dr. Juan A. Fernández General Hospital, Buenos Aires, Argentina.

Development of inhibitors against factor VIII (FVIII) or FIX is the most serious complication of replacement therapy in patients with haemophilia. Haemophilic pseudotumours in a patient with inhibitors can lead to devastating consequences. The aim of this study is to show our experience in the treatment of 10 pseudotumours in 7 patients with inhibitors who were treated by the same multidisciplinary team in the period between January 2000 and March 2013. Read More

Haemophilia 2015 Jul 27;21(4):530-7. Epub 2015 Jan 27.

Division of Hematology/Oncology, Department of Medicine, University of California San Diego, San Diego, CA, USA.

We previously demonstrated in adult patients with haemophilia (PWH) that hemarthrosis is present in only ~1/3rd of acutely painful joints by using point-of-care-musculoskeletal ultrasound (MSKUS). Therefore, other unrecognized tissue abnormalities must contribute to pain. Using high resolution MSKUS, employing grey scale and power Doppler, we sought to retrospectively (i) investigate soft tissue abnormalities in painful haemophilic joints and (ii) to determine to what extent MSKUS findings, functional or radiographic joint scores correlate with biomarkers of inflammation in PWH. Read More

Blood Coagul Fibrinolysis 2014 Dec;25(8):787-94

aDepartment of Physical Medicine and Rehabilitation bDepartment of Orthopaedic Surgery. 'La Paz' University Hospital, Madrid, Spain.

Between 10 and 23% of bleeding episodes in the musculoskeletal system of haemophilia patients occur in the muscles. Until now, the most widely accepted treatment for muscle haematomas in patients with haemophilia has been a combination of rehabilitation and intravenous infusion of replacement clotting factor, until the haematoma completely disappears. The only way to prevent muscle bleeds in haemophilia is primary haematological prophylaxis (from cradle to college). Read More