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Coagulation Disorders


Musculoskeletal Pathologies in Children with Haemophilia Evaluated using a Standardised Physical Joint Scoring System to Assess Disability


Sonata Saulyte Trakymiene


Paediatric Haematologist/Oncologist, Department of Paediatric Haematology/Oncology, Vilnius University Children’s Hospital, and Faculty of Medicine, Vilnius University


Abstract


Repeated bleeding into the joints leads to the development of chronic and progressive joint disease in 90% of people with severe haemophilia. Owing to recurrent haemarthroses, musculoskeletal outcome remains an important hallmark of treatment efficacy in haemophilia. Physical joint assessment is commonly used to measure structural and functional joint damage. With the development and introduction of prophylaxis, the most widely used instruments for the assessment of haemophilic arthropathy were found to lack sensitivity to detect the earliest signs of joint disease. To address these inadequacies, a new international consensus tool, the Haemophilia Joint Health Score (HJHS), was developed. The HJHS appears to be a sensitive, reliable and valid tool. However, the HJHS needs further evaluation in various patient populations to assess its applicability and usefulness.


Keywords Haemophilia Joint Health Score (HJHS), haemophilia, joint assessment, musculoskeletal assessment, patients with haemophilia


Disclosure: The author has no conflicts of interest to declare. Acknowledgement: The author gratefully acknowledges Jørgen Ingerslev for fruitful discussions and insight and helpful comments while reading the manuscript. Received: 7 November 2010 Accepted: 30 January 2011 Citation: European Oncology & Haematology, 2011;7(1):76–80 Correspondence: Sonata Saulyte Trakymiene, Tilto 23-4, Vilnius 01101, Lithuania. E: sonata.trakymiene@vuvl.lt


Patients with haemophilia experience a spectrum of bleeding manifestations that occur either spontaneously or after minimal trauma. Examples of bleeding range from life-threatening bleeding such as intracranial haemorrhage to less severe bleeds such as easy bruising or mucosal bleeding. Joint haemorrhage or intra-articular bleeding (haemarthrosis) accounts for >90% of all bleeding events in patients with severe haemophilia (as defined by a circulating clotting factor activity of <0.01IU/ml).1–3


Bleeding into joints occurs spontaneously with a frequency that usually ranges from 20–30 to 50 times per year.4–6


This leads to a


Close to 80% of recurrent joint bleeds have been found to take place in joints of the extremities, in particular the elbows, knees and ankles,1–3,8,9


painful chronic joint disease affecting 90% of people with severe haemophilia.7


but may occur into almost any joint.10,11


Early bleeds into joints are often observed when a child starts walking,12–14


Over a period of time,


but the age of the first bleed varies among individuals and has been reported to occur between one and five years, with a higher frequency between 1.2 and two years of age.15


recurrent bleeds into the same joint result in progressive joint damage and the development of haemophilic arthropathy, which is characterised by synovial hypertrophy, cartilage damage, loss of joint space and subchondral bone changes.16


While the pathogenesis of haemophilic arthropathy is increasingly better understood, the exact mechanisms that result in the blood- induced joint damage, in particular the early changes in the joint,


76


remain to be fully elucidated. It appears that this is a complex and multifactorial process involving both inflammatory synovium-mediated components and degenerative cartilage-mediated changes.17–23


There


is evidence from in vitro studies to suggest that immature articular cartilage may be more susceptible to blood-induced damage than mature articular cartilage.24


The risk of joint damage increases


proportionally with the number of bleeding episodes. By contrast, initiation of progressing and irreversible joint changes may occur after only a small number of joint bleeds.25


Furthermore, changes demonstrable by magnetic resonance imaging (MRI) may be found in patients who have never reported a joint bleed, suggesting the existence of microhaemorrhages or subclinical haemorrhages into the joints that may cause deterioration of joints with no historical evidence of haemarthrosis.26–28


Recurrent bleeding into joints results in progressive and irreversible changes leading to the development of the classic haemophilic arthropathy. Once established, there is no chance of spontaneous resolution and the condition may even progress during the use of preventative treatment.29


Musculoskeletal Outcome Assessment Recurrent haemarthroses mean that musculoskeletal outcome remains an important hallmark of treatment efficacy in haemophilia. Musculoskeletal damage is a progressive and irreversible disease that usually occurs after a limited number of joint haemorrhages in childhood, usually as early as the second decade of life.30


© TOUCH BRIEFINGS 2011


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