Management of haemophilic arthropathy (original) (raw)
Related papers
Journal Human Research in Rehabilitation, 2016
Patients with haemophilia type A or B may develop, over time, haemophilic arthropathy with different degrees of joint dysfunction. This disorder is a consequence of repeated episodes of intraarticular bleeding, with either spontaneous or traumatic aetiology. In the recent years, the therapeutic management of these patients has changed, still, without prompt early diagnosis and prophylactic treatment, the joints deteriorate to such a degree that only a complex multi-disciplinary approach can offer an optimal outcome. Modern high resolution MRI and prophylaxis treatment can detect and delay early signs of haemophilic arthropathy, but, not all patients have access to these types of early interventions. As a result, there are still patients presenting with different of degrees haemophilic arthropathy, which require surgical treatment. Despite the use of modern, minimal invasive approaches, surgical treatment alone can’t offer a good symptom relief and can’t provide a good functional out...
Arthropathy in Patients with Moderate Hemophilia A: A Systematic Review of the Literature
Seminars in Thrombosis and Hemostasis, 2013
With an overall prevalence of 1:5,000 male newborns, hemophilia A (HA; the deficiency of coagulation factor [F] VIII) is one of the most common inherited coagulation disorders. The major clinical manifestation of this X-linked disease is represented by bleeding episodes, whose frequency and severity are largely related to residual FVIII plasma levels. 2 According to the current classification of hemophilia on the basis of FVIII levels, although bleeding phenotype may be rather heterogeneous, 3 subjects with FVIII levels below 1% of normal show severe disease (i.e., a severe bleeding tendency with recurrent and often spontaneous bleeds), those with FVIII levels between 1 and 5% have a moderate disease (traumatic and rarely spontaneous bleeds), and patients with 5 to 40% of FVIII activity develop mild disease (bleeding exclusively after severe trauma or invasive procedures). 4
Hemophilic joint disease – current perspective and potential future strategies
Transfusion and Apheresis Science, 2008
Recurrent hemarthroses can lead to hemophilic joint disease (HJD), which is one of the most disabling complications of these X-linked recessive disorders characterized by a deficiency of clotting factors VIII/IX. The pathogenesis of HJD is not well understood and there is evidence to suggest that iron may play a central role in the pathogenetic process causing changes at the molecular level and through the release of cytokines and perpetuation of a chronic inflammatory state. Also, there may be a role for angiogenesis in accelerating the joint damage begun by recurrent hemarthroses. Hemophilic joint disease can be diagnosed by MRI which provides information about the pathology of the synovium, articular cartilage and bone. However, it is expensive, and maybe cumbersome in young children who require sedation. Newer, cost-effective imaging tools such as ultrasonography need to be explored to facilitate diagnosis and monitoring of joint disease. Repeated bleeds into the joint could be prevented by reducing the number of bleeds by the prophylactic infusion of factor concentrates on a bi-weekly to alternate day schedule depending on the activity level and bleeding phenotype. However, the dose, schedule and timing of prophylaxis still remain unresolved despite some multi-center clinical studies proving its benefit in preserving joint function. Prohibitive costs and the need for venous access devices in delivering factor concentrates in younger children continue to complicate universal recommendations of prophylaxis. In those patients who fail or refuse prophylaxis, procedures such as isotopic synovectomy can provide relief from repeated joint bleeds, again the timing of which is not well-defined. Newer strategies to identify early joint disease through the use of serological markers are needed. Also, cost-effective imaging modalities are needed so that treatment strategies such as prophylaxis and isotopic synovectomy can be appropriately timed to reap maximum benefits. A combination of serological and imaging evidence of early joint disease might ultimately impact on the optimal management of hemophilic joint disease.
Hemophilic Arthropathy: Barriers to Early Diagnosis and Management
Journal of Blood Medicine
Hemophilia is a congenital coagulopathy characterized by a deficiency of one of the clotting factors. It is characterized by the development of hematomas and hemarthrosis, either spontaneously or after minor trauma. The recurrence of hemarthroses leads to progressive and degenerative joint damage from childhood (hemophilic arthropathy). This arthropathy is characterized by disabling physical effects that limit the functionality and quality of life of these patients. Medical progress achieved over the last decade in the drug treatment of hemophilia has improved the medium and long-term prospects of patients with more effective and long-lasting drugs. The universal use of safer, more effective and prolonged prophylactic treatments may promote the prevention of bleeding, and also therefore, of the development of hemarthrosis and joint damage. A number of imaging instruments have been developed for the assessment of hemarthrosis and hemophilic arthropathy, using ultrasound, magnetic resonance imaging and simple radiology. Different physical examination scores and questionnaires allow the assessment of joint health, self-perceived activity and functionality of patients with hemophilia. The approach to these patients should be interdisciplinary. Assessment of the processes that affect pain in these patients and the development of pain education models should be implemented. Expert advice and information to patients with hemophilia should be based on individual functional prevention diagnoses, advice on available therapies and sports practice, as well as health recommendations.
Haemophilia : the official journal of the World Federation of Hemophilia, 2015
In patients with haemophilia A, factor VIII (FVIII) prophylaxis reduces bleeding frequency and joint damage compared with on-demand therapy. To assess the effect of prophylaxis initiation age, magnetic resonance imaging (MRI) was used to evaluate bone and cartilage damage in patients with severe haemophilia A. In this cross-sectional, multinational investigation, patients aged 12-35 years were assigned to 1 of 5 groups: primary prophylaxis started at age <2 years (group 1); secondary prophylaxis started at age 2 to <6 years (group 2), 6 to <12 years (group 3), or 12-18 years (group 4); or on-demand treatment (group 5). Joint status at ankles and knees was assessed using Compatible Additive MRI scoring (maximum and mean ankle; maximum and mean of all 4 joints) and Gilbert scores in the per-protocol population (n = 118). All prophylaxis groups had better MRI joint scores than the on-demand group. MRI scores generally increased with current patient age and later start of proph...
Haemophilia and joint disease: pathophysiology, evaluation and management
Journal of Comorbidity, 2011
In patients with haemophilia, regular replacement therapy with clotting factor concentrates (prophylaxis) is effective in preventing recurrent bleeding episodes into joints and muscles. However, despite this success, intra-articular and intramuscular bleeding is still a major clinical manifestation of the disease. Bleeding most commonly occurs in the knees, elbows, and ankles, and is often evident from early childhood. The pathogenesis of haemophilic arthropathy is multifactorial, with changes occurring in the synovium, bone, cartilage, and blood vessels. Recurrent joint bleeding causes synovial proliferation and infl ammation (haemophilic synovitis) that contribute to end-stage degeneration (haemophilic arthropathy); with pain and limitation of motion severely affecting patients' quality of life. If joint bleeding is not treated adequately, it tends to recur, resulting in a vicious cycle that must be broken to prevent the development of chronic synovitis and degenerative arthritis. Effective prevention and management of haemophilic arthropathy includes the use of early, aggressive prophylaxis with factor replacement therapies, as well as elective procedures, including restorative physical therapy, analgesia, aspiration, synovectomy, and orthopaedic surgery. Optimal treatment of patients with haemophilia requires a multidisciplinary team comprising a haematologist, physiotherapist, orthopaedic practitioner, rehabilitation physician, occupational therapist, psychologist, social workers, and nurses. Journal of Comorbidity 2011;1:51-59
Optimal management of hemophilic arthropathy and hematomas
Journal of Blood Medicine, 2014
Hemophilia is a hematological disorder characterized by a partial or complete deficiency of clotting factor VIII or IX. Its bleeding complications primarily affect the musculoskeletal system. Hemarthrosis is a major hemophilia-related complication, responsible for a particularly debilitating chronic arthropathy, in the long term. In addition to clotting factor concentrates, usually prescribed by the hematologist, managing acute hemarthrosis and chronic arthropathy requires a close collaboration between the orthopedic surgeon and physiotherapist. This collaboration, comprising a coagulation and musculoskeletal specialist, is key to effectively preventing hemarthrosis, managing acute joint bleeding episodes, assessing joint function, and actively treating chronic arthropathy. This paper reviews, from a practical point of view, the pathophysiology, clinical manifestations, and treatment of hemarthrosis and chronic hemophiliainduced arthropathy for hematologists, orthopedic surgeons, and physiotherapists.
Pathogenesis of haemophilic synovitis: clinical aspects
Haemophilia, 2007
Arthropathy remains a major cause of morbidity in patients with haemophilia. Frequent bleeding into the joints leads to joint damage with resultant contractures, joint deformities and arthritis. This in turn leads to muscle atrophy, limited physical activity, osteoporosis and disability. Even though several studies of prophylactic factor replacement for persons with severe haemophilia demonstrate improved joint function, this therapy is still not readily available to most people with haemophilia around the world and a universal treatment protocol has not been used. In this article, we discuss key issues in the treatment of severe haemophilia: the optimal timing of initiation and termination of therapy, dosing options and goals of therapy. The options for countries where prophylaxis is not readily available are also discussed. Most studies are small and not randomized making consensus treatment recommendations difficult to formulate. Randomized, clinical trials are needed to provide the answers regarding the optimal treatment of patients with severe haemophilia.
Musculoskeletal treatment in haemophilia
EFORT open reviews, 2019
Haemophilia is a group of coagulation disorders inherited in an X-linked recessive pattern. Nearly three-quarters of all haemorrhages in haemophilia occur in the musculoskeletal system, usually in the large muscles and joints of the lower extremity. While prevention of bleeding with active prophylaxis is the recommended optimal therapy for severe haemophilia, there are many patients suffering from musculoskeletal system complications subsequent to uncontrolled bleeding. Recombinant clotting factor concentrates led to home treatment of acute bleeding episodes as well as allowing for minor and major surgical interventions. Avoiding of further complications by radiosynoviorthesis is the first-line recommendation, and arthroplasty is regarded as the effective salvage procedure for patients presenting with severe disability. Physiotherapy and rehabilitation in haemophilia patients are important to return the normal status of joint motion, to regain the muscle strength, to obtain the optimal functional levels and to improve patients' quality of life.
Haemophilia, 2020
Bleeding into joint spaces (haemarthrosis) is a common complication in children with haemophilia. Repeated haemarthrosis leads to joint degradation and haemophilic arthropathy (HA). One goal of treating patients with haemophilia with prophylaxis (regular replacement therapy) is to decrease the frequency of joint bleeds and ultimately limit end organ damage. Observational and randomized controlled trials have demonstrated the effectiveness of prophylaxis. 1-3 However, validated and responsive clinical indices are still needed to monitor patient disease status and evaluate treatment regimens in longitudinal studies. Additionally, it is unclear how novel nonfactor therapeutics such as FVIII-mimetics and gene therapy affect joint health. If effective, a measure of early-stage HA could be instrumental to guide decisions between different prophylaxis regimens.