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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

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

Haemophilia 2014 Jan 24;20(1):e51-7. Epub 2013 Sep 24.

Hospital Universitario de Cruces, San Vicente de Barakaldo, Spain.

Haematomas and recurrent haemarthroses are a common problem in haemophilia patients from early age. Early diagnosis is critical in preventing haemophilic arthritis, and recent years have seen excellent advances in musculoskeletal ultrasound as a diagnostic tool in soft tissue lesions. In this study, we compared the results of ultrasound imaging for the diagnosis of musculoskeletal injuries in haemophilia patients with scores obtained using magnetic resonance (MRI) scans. Read More

ScientificWorldJournal 2013 13;2013:284358. Epub 2013 May 13.

Haemostasis and Thrombosis Unit, Saint-Luc University Clinics, 1200 Brussels, Belgium.

In patients with haemophilia (PWH) (from Greek "blood love"), the long-term consequences of repeated haemarthrosis include cartilage damage and irreversible arthropathy, resulting in severe impairments in locomotion. Quantifying the extent of joint damage is therefore important in order to prevent disease progression and compare the efficacy of treatment strategies. Musculoskeletal impairments in PWH may stem from structural and functional abnormalities, which have traditionally been evaluated radiologically or clinically. Read More

Cardiovasc Intervent Radiol 2013 Aug 13;36(4):964-9. Epub 2012 Nov 13.

Hospital de Agudos Juan A. Fernandez, CABA, Buenos Aires, Argentina.

Purpose: Congenital hemophilia is a hereditary bleeding disorder that affects 1 in 5,000 males and is characterized by repetitive musculoskeletal bleeding episodes. Selective embolization of the knee and elbow arteries can prevent bleeding episodes. To evaluate the long-term efficacy of these procedures, we assessed the outcomes of 30 procedures performed in our center. Read More

Adv Prev Med 2012 14;2012:201271. Epub 2012 Jun 14.

Department of Orthopaedic Surgery, La Paz University Hospital, Paseo de la Castellana 261, 28046 Madrid, Spain.

Hemophilia is an inherited disorder of clotting factor deficiencies resulting in musculoskeletal bleeding, including hemarthroses, leading to musculoskeletal complications. The articular problems of hemophiliac patients begin in infancy. These include: recurrent hemarthroses, chronic synovitis, flexion deformities, hypertrophy of the growth epiphyses, damage to the articular cartilage, and hemophilic arthropathy. Read More

Int Orthop 2012 Oct 4;36(10):2157-62. Epub 2012 Jul 4.

Department of Orthopaedics, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.

Purpose: Haemophilic pseudotumour was defined by Fernandez de Valderrama and Matthews as a progressive cystic swelling involving muscle, produced by recurrent haemorrhage into muscles adjacent to the bone. The pseudotumour mainly occurs in the long bones and the pelvis. The treatment of the haemophilic pseudotumour poses a challenge, and extensive clinical experience is essential to appropriately address this serious complication in patients with haemophilia. Read More

Haemophilia 2012 Jul;18 Suppl 4:125-30

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

Br J Haematol 2012 Jan 3;156(1):13-23. Epub 2011 Nov 3.

Hematology/Oncology/Stem Cell Transplantation, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.

Haemophilia is an inherited disorder of clotting factor deficiencies resulting in musculoskeletal bleeding, including haemarthroses, leading to orthopaedic complications. The pathogenesis of haemophilic joint arthropathy continues to be explored and there is evidence to suggest that iron, cytokines, and neo angiogenesis can initiate synovial and early cartilage damage resulting in molecular changes and the perpetuation of a chronic inflammatory state. This joint arthropathy has long term consequences for bone health resulting in chronic pain and quality of life issues in the individual with haemophilia. Read More

Curr Probl Diagn Radiol 2011 Sep-Oct;40(5):191-7

Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.

The purpose of this pictorial assay is to demonstrate the imaging features of the various musculoskeletal manifestations of hemophilia, an X-linked disorder. Depending on the site of recurrent bleeding, musculoskeletal manifestation can be in the form of hemophilic arthropathy and/or soft tissue, intraosseous, or subperiosteal pseudotumors. Radiography, sonography, computed tomography, and especially magnetic resonance imaging help in the evaluation of hemophilic arthropathy and pseudotumors, providing accurate diagnosis, thus avoiding inadvertent procedures and related complications. Read More

Haemophilia 2010 Sep 7;16(5):813-21. Epub 2010 Apr 7.

Haemostasis and Thrombosis Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

Summary: A major complication in haemophilia is the destruction of joint cartilage because of recurrent intraarticular and intramuscular bleeds. Therefore, joint assessment is critical to quantify the extent of joint damage, which has traditionally been evaluated using both radiological and clinical joint scores. Our study aimed to evaluate the natural progression of haemophilic arthopathy using three-dimensional gait analysis (3DGA) and to assess the reproducibility of this technique. Read More

Haemophilia 2010 May 23;16(3):557-9. Epub 2009 Nov 23.

J Med Imaging Radiat Oncol 2009 Feb;53(1):13-21

Department of Radiology, The Queen Elizabeth Hospital, 28 Woodville Road, Woodville South, SA 5011, Australia.

Haemorrhage is the main manifestation of the haemophilias. Although acute haemorrhages can be life threatening, especially if involving the central nervous system, repeated haemorrhages involving the musculoskeletal system lead to two conditions unique to patients with haemophilias. This pictorial essay reviews the typical imaging appearances of haemorrhages and consequences in those with haemophilias, with particular emphasis on haemophilic arthropathy and pseudotumours. Read More

Haemophilia 2009 Jul 23;15(4):864-8. Epub 2009 Mar 23.

Department of Orthopaedics and Haemophilia Unit, La Paz University Hospital and University Autónoma, Madrid, Spain.

The incidence of haemarthrosis as a result of a spontaneous periarticular aneurysm in haemophilia is very low. In these circumstances, angiographic embolization might be considered as a promising therapeutic and coagulation factor saving option in joint bleeds not responding to replacement of coagulation factor to normal levels. Moreover, embolization should be considered as a possible treatment for postoperative pseudoaneurysms complicating total knee arthroplasty in haemophilia. Read More

Haemophilia 2008 Nov;14 Suppl 6:56-67

Department of Orthopaedic Surgery, La Paz Univerisity Hospital, Madrid, Spain.

Haemophilia patients with inhibitors commonly present much more severe musculoskeletal problems than patients without inhibitors. With haematological advances using recombinant activated factor VII (rFVIIa) and activated prothrombin complex concentrate (aPCC), it is now possible to perform orthopaedic procedures in these patients with a high rate of success. In Spain, the healthcare system sets no financial limits for the treatment of haemophilia, and children with haemophilia today have a much better musculoskeletal status than 30 years ago. Read More

Skeletal Radiol 2009 Oct 20;38(10):949-57. Epub 2008 Sep 20.

The Royal Free Hospital, London, UK.

Haemophilia disorders are characterised by a blood coagulation anomaly leading to prolonged and excessive bleeding. Imaging provides an essential role in the investigation of both the musculoskeletal and the non-musculoskeletal complications of haemophilia. Our institution is home to a large tertiary referral centre for haemophilia treatment. Read More

Haemophilia 2008 Jul;14 Suppl 3:162-9

Division of Rheumatology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON, Canada.

Semin Hematol 2006 Jan;43(1 Suppl 1):S27-32

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

Treatment of hemophilia aims to minimize structural damage to joints and maximize patients' functional independence and quality of life. From an orthopedic perspective, treatment efficacy can be judged by quantifying the extent of musculoskeletal damage. Joint scores--both clinical and radiologic--have traditionally been measured in patients with hemophilia. Read More

Pediatr Clin North Am 2005 Apr;52(2):373-411, vi

Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8 Canada.

This article reviews the current use of the wide variety of imaging modalities now available, presenting the imaging features of common and important causes of acute and chronic rheumatic disorders including juvenile idiopathic arthritis, spondyloarthropathies/enthesitis-related arthritis, sepsis, autoimmune diseases, vasculitis, and osteoporosis. Read More

AJR Am J Roentgenol 2004 Jul;183(1):55-61

Department of Diagnostic Radiology, Kyung Hee University Hospital, Heokidong Dongdaemun-ku, Seoul 130-702, South Korea.

Semin Musculoskelet Radiol 2003 Jun;7(2):127-36

Department of Radiology, Orthopaedic Hospital, Los Angeles, CA 90007, USA.

In patients with hemophilia, hemarthrosis often occurs in one or several joints and may progress to a destructive, disabling arthropathy. Treatment includes continuous or on-demand clotting factor replacement and radionuclide or open synovectomy. The radiographic findings of hemophilic arthropathy depend on the stage of disease, the age of the patient at onset, and the joint involved. Read More

Turk J Pediatr 2000 Jul-Sep;42(3):205-9

Ankara Physical Medicine and Rehabilitation Center, Ankara University Faculty of Medicine, Turkey.

Hemophilia is an inherited bleeding disorder which produces its greatest morbidity in the musculoskeletal system. Musculoskeletal complications of hemophilia include acute hemarthrosis, chronic arthritis and hemophilic arthropathy. We studied the clinical and radiological characteristics of joint involvement in hemophiliacs. Read More

Skeletal Radiol 1997 Aug;26(8):468-74

Department of Radiology, Veterans Affairs Medical Center, San Diego, CA 92161, USA.

Objective: To determine the MR imaging appearance of hemophilic pseudotumor (HP) and its clinical implications.

Design And Patients: Five hemophilic patients (aged 35-77 years) with 12 HPs in various anatomic locations were included in this study. The MR images were retrospectively evaluated for the appearance of the lesions and accompanying abnormalities, as well as their clinical implications. Read More

Radiol Clin North Am 1996 Mar;34(2):446-50

Department of Radiology and Musculoskeletal Radiology Section, Boston University Medical Center and Boston City Hospital, Massachusetts, USA.

Semin Hematol 1993 Jul;30(3 Suppl 2):3-6

Department of Orthopedics, Mount Sinai School of Medicine, New York, NY.

AJR Am J Roentgenol 1992 Jan;158(1):119-23

Department of Radiology, Mount Sinai Medical Center, City University of New York, NY 10029-6574.

The purpose of this essay is to illustrate features of the musculoskeletal complications of hemophilia as shown by CT, sonography, and MR imaging. MR can be used to detect early synovial and cartilaginous changes that may not be evident on conventional radiography and to differentiate between acute and chronic bleeding in soft tissues. CT is useful in evaluating subtle bony erosion and intra- and extraosseous pseudotumors. Read More

Angiology 1986 Feb;37(2):128-31

The vast majority of bleeding episodes in hemophilia occur in the musculoskeletal system. When bleeding occurs, within a closed compartment, the possibility of neurovascular compromise must be suspected. We present an interesting case where this danger was overlooked in a young hemophiliac boy and resulted in bone growth retardation and permanent deformity. Read More

Instr Course Lect 1983 ;32:217-23

Hand 1982 Oct;14(3):333-6

The total absence of literature regarding the affects of haemophilia on the hand prompted this three year study at the Israel National Haemophilia Centre. The hands of all haemophiliacs were examined and X-rayed at the time of their annual check-up. Apart from a number of established Volkmann's contractures in elderly patients and multiple bone cysts of the carpus, surprisingly little pathology was found. Read More

Mt Sinai J Med 1977 May-Jun;44(3):339-58

Ann N Y Acad Sci 1975 Jan;240:328-37