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Query: UMLS:C0684275 (haemophilia)
 10,958 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Published retrospective reports from France, the Netherlands and Sweden were analysed for data relating to the long-term outcomes (primarily the development of arthropathy) of three regimens for the management of severe haemophilia: on-demand treatment, intermediate-dose prophylaxis and high-dose prophylaxis. The mean annual consumption of factor concentrate was also compared. These data indicate that both prophylaxis regimens resulted in significantly improved long-term outcomes, as assessed by pain, clinical and radiological assessment scores. At the same time, the most recently reported annual factor consumption levels of these young adult patients are comparable in the on-demand and intermediate-dose prophylaxis cohorts, suggesting that the improvement in long-term clinical outcomes and reduced risk of arthropathy may lead to reduced factor consumption in adult patients who received early prophylactic therapy.
Haemophilia 2003 May
PMID:Comparing outcomes of different treatment regimens for severe haemophilia. 1270 34

Von Willebrand disease (VWD) is the commonest inherited disorder of hemostasis and the majority of women with this disorder experience excessive uterine bleeding. Yet very little information is available on the health-related quality of life (HRQL) in individuals with VWD. To test the a priori hypotheses that these individuals will have poorer HRQL than members of the general population, and that this burden of morbidity will correlate with the severity of VWD, a cross-sectional study was undertaken of a population-based cohort in a regional hemophilia program in Ontario, Canada. A survey was made of individuals over 13 years of age with VWD who self-reported their health status using a standard 15 item questionnaire. The responses were converted to levels in the Health Utilities Index Mark 2 (HUI2) and Mark 3 (HUI3) health status classification systems to form multi-element vectors from which single attribute morbidity and overall HRQL utility scores were determined. As a group, individuals with VWD were shown to have poorer HRQL than members of the general population and those with Type 2 disease carried a greater burden of overall morbidity than those with Type 1 disorder. Morbidity was evident mainly in the attributes of emotion, cognition with pain. A striking difference was observed between males and females, with the latter having overall HRQL utility scores similar to those reported previously for HIV positive, severe hemophiliacs. It is possible that this remarkable burden of morbidity reflects chronic iron deficiency associated with menorrhagia. A national study has been proposed to address this likelihood as it offers an opportunity for effective therapeutic intervention (iron supplementation) with a concomitant gain in health status and HRQL.
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PMID:Health status and health-related quality of life associated with von Willebrand disease. 1274 12

Inhibitors in patients with hemophilia are a rare complication of a rare disease causing pain and disability in patients and impairment to the quality of their lives. Recent advances in treatment have brought improvements, but they have done so by absorbing larger amounts of financial resources. This study involved 52 Italian patients with hemophilia with high-responding inhibitors who were longitudinally observed for 18 months to evaluate concomitantly cost of care and quality of life. Overall, 0.6 bleeding episodes per patient per month were recorded. This frequency of events was lower than that reported in other cohorts of patients with hemophilia who were not taking inhibitors. The average monthly cost of care was, in euros, 18,000 (18,000 US dollars) per patient, mainly because of treatment products. Recombinant activated factor VII, mostly used for orthopedic surgery, represented 50% of the expenses. Quality of life, measured through validated questionnaires, was similar to that of patients with severe hemophilia without inhibitors. In particular, physical quality of life was similar to that in patients with diabetes and on dialysis, whereas mental quality of life was comparable to that in the general population. This study shows that hemophilia complicated by inhibitors, a prototype of rare disease, requires high amounts of resources for management that provides a satisfactory quality of life.
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PMID:Cost of care and quality of life for patients with hemophilia complicated by inhibitors: the COCIS Study Group. 1281 59

Recombinant activated factor VII (rFVIIa, NovoSeven) represents an effective treatment for hemophilia patients with inhibitors, but no consensus as to the best dosing regimen exists. We assessed the efficacy and safety of a rFVIIa 'megadose' (300 micro g kg(-1) bolus) as treatment for bleeds in three young inhibitor patients. Of 114 bleeds, 95 responded to a single dose. Pain relief was faster and therapy duration significantly shorter than with continuous infusion (CI) regimens or standard boluses (90 micro g kg(-1) every 3 h). Rebleeding occurred in 9.6% of cases and 19/114 episodes required a second bolus injection. Although rFVIIa consumption per bleed (median: 300 micro g kg(-1)) was higher than with standard boluses (180-270 micro g kg(-1)), patients found single bolus administration more convenient than recurrent injections or CI. With two exceptions, no complications occurred within 3 h of treatment, despite high FVII:C levels (median: 27.4 U mL(-1); range: 19.8-54 U mL(-1)). Treatment of bleeds with a rFVIIa megadose in young inhibitor patients is effective and well tolerated.
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PMID:A new approach to treatment of bleeding episodes in young hemophilia patients: a single bolus megadose of recombinant activated factor VII (NovoSeven). 1287 44

Spontaneous hematoma in the ilio-psoas muscle is an uncommon condition, usually observed as a complication of anticoagulation or hemophilia. Clinically, the onset is marked by violent pain in the territory of femoral nerve and/or psoitis. The diagnosis is confirmed by echography or CT-scan. The most serious complications are loss of self-sufficiency and neuro-muscular after-effect. Surgery is recommended in patients with neurological suffering, followed by early physiotherapy. We report the case of a 42-year-old man, with an ilio-psoas muscle hematoma, revealing chronic myeloid leukemia, without any hemostasis disorder.
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PMID:[Spontaneous hematoma of the iliac psoas muscle in chronic myeloid leukemia. A case report]. 1291 48

OBJECTIVE: To present the case of a collegiate soccer player who suffered from a traumatic knee hemarthrosis secondary to hemophilia A. This case presents an opportunity to discuss the participation status of athletes with hemophilia. BACKGROUND: Hemophilia is a hereditary blood disease characterized by impaired coagulability of the blood. Hemophilia A is the most common of the severe, inherited bleeding disorders. This type, also called classic hemophilia, is due to a deficiency of clotting factor VIII. The athlete with hemophilia A reported pain and loss of function of his knee during a soccer game despite the absence of injury. DIFFERENTIAL DIAGNOSIS: Anterior cruciate ligament tear, intra-articular fracture, meniscus tear, capsular tear, hemarthrosis. TREATMENT: After the injury, the athlete was admitted to the hospital, where his knee joint was aspirated and he was infused with factor VIII. Later, he participated in traditional knee rehabilitation and was returned to play at the discretion of the orthopaedist and the hematologist. UNIQUENESS: In past participation guidelines, individuals with bleeding disorders were disqualified from athletic participation; however, with advances in medical care, these individuals may be permitted to participate in accordance with the law. CONCLUSIONS: Individuals with hemophilia participate in athletics; therefore, team physicians and athletic trainers must be prepared to care for these individuals.
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PMID:Traumatic Hemarthrosis of the Knee Secondary to Hemophilia A in a Collegiate Soccer Player: A Case Report. 1293 88

Total elbow replacement can be a valuable option for the treatment of the elbow in haemophilia where there are associated arthropathic changes. We describe the outcome of seven elbow replacements in five consecutive patients with severe haemophilia A (native factor levels < 1%) at a mean of 42 months (25 to 65) after operation. All the patients had excellent relief of pain and improvement in function. One failure was due to infection in an immunocompromised patient with both HIV and Hepatitis C antibodies who was on anti-retroviral chemotherapy. The implant was revised at 30 months in a one-stage procedure and showed no evidence of loosening or infection 35 months later.
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PMID:Arthroplasty of the elbow in haemophilia. 1556 42

Total knee arthroplasty (TKA) is very effective in relieving pain and improving function in patients with advanced hemophilic arthropathy. Because of intra-articular fibrosis and extra-articular muscle contracture, the gain in motion after TKA has been unsatisfactory. The purpose of this study is to report the results of TKA in patients with hemophilia using posterior cruciate ligament (PCL)-sacrificing prostheses. From April 1987 to May 1998, 9 patients underwent 14 PCL-sacrificing TKAs for advanced hemophilic arthropathy. The average length of follow-up evaluation in surviving patients (13 knees) was 77 months (range, 25-159). A statistically significant difference was found between the preoperative and postoperative values with respect to pain score (5 vs 48), functional score (42 vs 78), flexion deformity (17 degrees vs 5 degrees ), and flexion range (56 degrees vs 81 degrees ). Nine complications occurred in 6 knees. One patient died from HIV-related complications, and none of the patients seroconverted to HIV during the follow-up period.
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PMID:Total knee arthroplasty in hemophilic arthropathy. 1566 74

The demonstrated benefits of home care for haemophilia include improved quality of life, less pain and disability, fewer hospitalizations, and less time lost from work or school. Although reduced mortality has not been demonstrated, the substantial increase in longevity since the early 1980s correlates with the introduction of home treatment and prophylaxis programmes. These programmes must be designed and monitored by haemophilia treatment centres (HTC), which are staffed with professionals with broad and complementary expertise in the disease and its complications. In return, patients and their families must be willing to accept the reciprocal responsibilities that come from administering blood products or their recombinant equivalents at home. Patients with inhibitors to factors VIII or IX pose special challenges, but these complications do not obviate participation in home care programmes. Home care was an essential prerequisite to the introduction of effective prophylactic factor replacement therapy. Prophylaxis offers significant improvements in quality of life, but requires a substantial commitment. The use of implantable venous access devices can eliminate some of the difficulty and discomfort of peripheral venous access in small children, but brings additional risks. The future holds the promise of factor concentrates for home use that have longer half-lives, or can be administered by alternate routes. Knowledge of patient genotypes may allow treatments tailored to avoid complications such as inhibitor development. Gene therapy trials, which are currently ongoing, will ultimately lead to gene-based treatments as a complement to traditional protein-based therapy.
Haemophilia 2004 Mar
PMID:Home management of haemophilia. 1496 1

Prophylaxis is widely recommended for the management of severe haemophilia A. Adoption of this approach has varied from country to country, and notably in the US prophylaxis is currently administered in fewer than one-half of severe cases. One implication is that a substantial segment of the severe haemophilia. A population will only be able to reap the potential benefits of prophylaxis if administered in the form of secondary prophylaxis. This therapeutic alternative has been less extensively investigated than primary prophylaxis, but nevertheless sufficient evidence has been reported to allow an assessment of the benefits and limitations of secondary prophylaxis. This evidence addresses the use of secondary prophylaxis in three contexts: (i). early secondary prophylaxis; (ii). delayed secondary prophylaxis and (iii). secondary prophylaxis in adults. In patients receiving early secondary prophylaxis studies in Sweden, the Netherlands, the UK and the US have demonstrated a reduction in the frequency of bleeding episodes and a subsequent low incidence of arthropathy. Additional reported benefits consist of reduced emergency room visits and hospitalizations. However, secondary prophylaxis is associated with an increased risk of the eventual development of arthropathy compared with primary prophylaxis. When delayed until school age or adolescence or until the development of frequent bleeding episodes under on-demand treatment, secondary prophylaxis generally appears to be unable to reverse all existing or developing joint damage. Nevertheless, multiple studies have shown that this therapy can retard further joint deterioration, reduce the frequency of haemorrhage, hospitalization and missed school days, improve physical function and capacity for self care, lessen restrictions on activities, reduce pain and enhance quality of life. Secondary prophylaxis in adults has been shown effective in reducing bleeding episodes. Adults under secondary prophylaxis can also experience improvements in joint condition, functional capacity and quality of life and a reduction in pain. Irrespective of age at initiation, long-term secondary prophylaxis appears to reduce the frequency of bleeding episodes even in patients with existing target joints whose bleeding diathesis persists during the early phases of secondary prophylactic therapy. In light of its potential benefits for substantial numbers of patients with severe haemophilia A, secondary prophylaxis should be considered to as a therapeutic option for patients not receiving primary prophylaxis.
Haemophilia 2004 Mar
PMID:Secondary prophylaxis therapy: what are the benefits, limitations and unknowns? 1496 3


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