Hemophilia Research Today is a free monthly online journal that collates and summarizes the latest research about Hemophilia, including details on genetics, causes, symptoms, blood transfusion.

Joint protection in haemophilia.

Rodriguez-Merchan EC, Jimenez-Yuste V, Aznar JA, Hedner U, Knobe K, Lee CA, Ljung R, Querol F, Santagostino E, Valentino LA, Caffarini A

Department of Orthopaedic Surgery, La Paz University Hospital, Madrid, Spain and School of Medicine, Autonomous University, Madrid, Spain. ecrmerchan@gmx.es

Haemarthroses (intra-articular haemorrhages) are a frequent finding typically observed in patients with haemophilia. Diagnosis and treatment of these bleeding episodes must be delivered as early as possible. Additionally, treatment should ideally be administered intensively (enhanced on-demand treatment) until the resolution of symptoms. Joint aspiration plays an important role in acute and profuse haemarthroses as the presence of blood in the joint leads to chondrocyte apoptosis and chronic synovitis, which will eventually result in joint degeneration (haemophilic arthropathy). Ultrasonography (US) is an appropriate diagnostic technique to assess the evolution of acute haemarthrosis in haemophilia, although magnetic resonance imaging remains the gold standard as far as imaging techniques are concerned. Some patients experience subclinical haemarthroses, which eventually tend to result in some degree of arthropathy, especially in the ankles. Nowadays, the most effective way of protecting these patients is primary prophylaxis, which in practice changes severe haemophilia into moderate haemophilia, preventing or at least minimizing the occurrence of haemarthrosis. If primary prophylaxis is, for whatever reason not an option, secondary prophylaxis and enhanced on demand treatment should be considered. Two alternatives are available for inhibitor patients: (i) control of haemostasis using by-passing agents (rFVIIa or aPCCs) either as enhanced on demand treatment or secondary prophylaxis, as appropriate, following the same basic principles used for non-inhibitor patients and (ii) immune tolerance induction (ITI) to eradicate the inhibitor.

Published 8 August 2011 in Haemophilia, 17: 1-23.
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Articles on Hemophilia published 1 July 2011:

Guideline on the management of haemophilia in the fetus and neonate.   Br J Haematol, 154(2): 208-15.

Evidence-based guidelines are presented for the management of haemophilia in the fetus and neonate. This includes information regarding the management of pregnancy and delivery as well as aspects of management during the early neonatal period. Specific issues regarding the mode of delivery and the risk of intra-cranial and extra-cranial haemorrhage are discussed. [Abstract] [Full-text]

Articles on Hemophilia published 27 June 2011:

Assessing joint involvement in haemophilia by clinical rheumatologic scores. A pilot study on similarities with subjects with psoriatic arthritis.   Clin Rheumatol, 30(7): 915-9.

Because of joint haemorrhages, severe haemophilia subjects often have limitations in their daily activities. Current orthopaedic scores (OJS) in haemophilia miss mild joint impairments and only pick up severe alterations. Twelve young severe haemophiliacs (20.25 ± 1.9 years of age), were evaluated for OJS as well as for indices employed in rheumatoid arthritis [28-joint Disease Activity Score (DAS-28), Ritchie index, Health Assessment Questionnaire (HAQ), visual analogue scale (VAS)], ... [Abstract] [Full-text]

Articles on Hemophilia published 22 June 2011:

International comparative field study of N8 evaluating factor VIII assay performance.   Haemophilia, 17(4): 695-702.

Discrepancies between the one-stage clotting assay and the chromogenic method, and also among different variations of each method, have been a significant challenge for one B-domain deleted FVIII product. N8 is a B-domain truncated FVIII product developed by Novo Nordisk. The comparison of N8 and Advate(®) was performed in an international, multicentre, randomized and blinded field study of simulated postinfusion samples. Overall, Advate(®) and N8 performed similarly in the one-stage assay. ... [Abstract] [Full-text]

The changing face of hepatitis in boys with haemophilia associated with increased prevalence of obesity.   Haemophilia, 17(4): 689-94.

Hepatitis in children with haemophilia was historically most often associated with transfusion-transmitted infections. However, with the use of recombinant clotting factor concentrates, acquisition of such infections has now become rare. We studied the profile of hepatitis in North-American children with haemophilia in the modern era of safe blood products and excess childhood obesity. A total of 173 boys (<18 years) registered in the Pediatric Comprehensive Care Haemophilia Program were ... [Abstract] [Full-text]

Assessment of musculoskeletal function and mood in haemophilia A adolescents: a cross-sectional study.   Haemophilia, 17(4): 683-8.

Haemophilia A is characterized by the occurrence of frequent spontaneous intra-articular and intramuscular bleeding. If inadequately treated, it results in progressive damage to joints and muscles leading to crippling deformities and musculoskeletal dysfunction. These complications result in lifelong chronic pain and disability that may greatly affect the patients' mood. We aimed to evaluate the musculoskeletal function in our haemophilia A patients and its correlation to depressed mood in ... [Abstract] [Full-text]

A case-control study reveals immunoregulatory gene haplotypes that influence inhibitor risk in severe haemophilia A.   Haemophilia, 17(4): 641-9.

Several genes that modify risk of factor VIII (FVIII) inhibitors in haemophilia A patients have been identified. Aside from the underlying mutations that cause haemophilia A, inhibitor risk appears to be modified by polymorphisms in various cytokines and immunomodulators including IL10, TNFα and CTLA4. HLA haplotypes have not been strong determinants of inhibitor risk. We sought to confirm previous observations on FVIII inhibitor risk-modifying genes and to test new candidate genes encoding ... [Abstract] [Full-text]

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Recurrent haemarthroses in patients with severe and moderate haemophilia can result in the development of one or more target joints and subsequent degenerative joint disease. This debilitating process is characterized by physical and physiological changes in articular cartilage, synovium and bone. Models of degenerative joint disease have been examined after the addition of whole blood or blood components to cell cultures or animal joints, or by monitoring biomarkers in individuals with and ... [Abstract] [Full-text]

Assessment of acute and persistent pain management in patients with haemophilia.   Haemophilia, 17(4): 612-9.

A descriptive survey was conducted in Region V-E of the United States to bridge the gap in available information on pain issues in the bleeding disorders population. The aim of this study was to a) determine language used by patients to describe and differentiate acute and persistent pain, b) describe pharmacological and non-pharmacological strategies utilized to control pain, c) determine the providers of pain management to this population and d) evaluate quality of life incorporating the ... [Abstract] [Full-text]

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