Home About us Contact
|
Home About us Contact | ||
|
|
||
Severe Haemophilia (severe + haemophilia)
Terms modified by Severe Haemophilia Selected AbstractsAcute intestinal obstruction due to intramural haemorrhage in small intestine in a patient with severe haemophilia A and inhibitorEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 2 2005Khaled M. A. Ramadan Abstract:, Patients with severe haemophilia A usually present with joint, gastrointestinal and urinary tract haemorrhage. Bleeding elsewhere is often precipitated by pre-existing pathology or trauma. We report a patient with severe haemophilia A, who presented with symptoms of acute intestinal obstruction. He has a factor VIII inhibitor and receives recombinant factor VIIa on demand at home. The CT scan of abdomen showed dilated small intestine with fluid filled loops and a long segment in the jejunum with marked transmural thickening. There was no other pathology in the small intestine. These appearances were consistent with intramural haemorrhage in the small intestine as the cause of acute obstruction. He was managed conservatively with recombinant factor VIIa and this resulted in resolution of his symptoms. This case highlights an unusual presentation of bleeding in a haemophilia patient. Intestinal obstruction due to haemorrhage in the small intestinal wall is extremely rare and only previously reported in a few haemophilia patients. It also highlights the effectiveness of conservative management with recombinant factor VIIa as opposed to immediate exploratory surgery. [source] Knowledge of disease and adherence in adult patients with haemophiliaHAEMOPHILIA, Issue 4 2010K. LINDVALL Summary., Patients with moderate and severe haemophilia are evaluated on a regular basis at their haemophilia centres but patients with mild haemophilia are seen less often because of fewer problems related to their disease. The needs of patients with milder forms of haemophilia, however, are often underestimated, both by the patient and staff at healthcare facilities. This study evaluated the knowledge of disease and adherence to treatment among patients with severe, moderate and mild haemophilia. This was a prospective multicentre study performed in Haemophilia Centres in Scandinavia. A total of 413 (67%) of 612 patients aged >25 years with mild, moderate and severe haemophilia completed a self-administered questionnaire. The mean age of the respondents was 49.7 years (range 25,87 years). Of the 413 respondents, 150 had a mild, 86 had a moderate and 177 had a severe form of haemophilia. A total of 22 (5%) patients did not know the severity of their disease, and 230 (56%) patients knew the effect of factor concentrate in the blood. Of the 413 respondents, 53 (13%) of the cohort never treated a haemorrhage. Patients with mild haemophilia, P , 0.001, were the least likely to treat a haemorrhage. The relative number of patients who were afraid of virus transmission by factor concentrate was about similar in the three groups, 27% of those with severe haemophilia, 26% with moderate and 24% with mild haemophilia. This study shows that the amount of knowledge among haemophilia patients about their disease and treatment is somewhat limited, and demonstrates the importance of continually providing information about haemophilia and treatment, especially to patients with a mild form of the disease. [source] Physical activity for prevention of osteoporosis in patients with severe haemophilia on long-term prophylaxisHAEMOPHILIA, Issue 3 2010M. KHAWAJI Summary., Physical activity has been considered as an important factor for bone density and as a factor facilitating prevention of osteoporosis. Bone density has been reported to be reduced in haemophilia. To examine the relation between different aspects of physical activity and bone mineral density (BMD) in patients with severe haemophilia on long-term prophylaxis. The study group consisted of 38 patients with severe haemophilia (mean age 30.5 years). All patients received long-term prophylaxis to prevent bleeding. The bone density (BMD g cm,2) of the total body, lumbar spine, total hip, femoral neck and trochanter was measured by dual energy X-ray absorptiometry. Physical activity was assessed using the self-report Modifiable Activity Questionnaire, an instrument which collects information about leisure and occupational activities for the prior 12 months. There was only significant correlation between duration and intensity of vigorous physical activity and bone density at lumber spine L1-L4; for duration (r = 0.429 and P = 0.020) and for intensity (r = 0.430 and P = 0.019); whereas no significant correlation between all aspects of physical activity and bone density at any other measured sites. With adequate long-term prophylaxis, adult patients with haemophilia are maintaining bone mass, whereas the level of physical activity in terms of intensity and duration play a minor role. These results may support the proposition that the responsiveness to mechanical strain is probably more important for bone mass development in children and during adolescence than in adults and underscores the importance of early onset prophylaxis. [source] A novel point mutation in severe haemophilia A: a further proof of genotype-phenotype correlationHAEMOPHILIA, Issue 3 2010A. BORCHIELLINI No abstract is available for this article. [source] Ethanol lock therapy for the treatment of catheter-related infections in haemophilia patientsHAEMOPHILIA, Issue 6 2009M. RAJPURKAR Summary., Central venous access devices (CVAD) are increasingly being used for optimal delivery of clotting factor concentrates in patients with haemophilia with poor peripheral venous access. The utility of CVAD is particularly well recognized in young patients starting factor prophylaxis and in patients with inhibitors undergoing immune tolerance induction (ITI). A catheter-related infection (CRI) remains the most common complication of CVAD in haemophilia patients and is the most frequent indication for its removal. Additionally, in some patients the infection results in significant morbidity and mortality and also contributes to failure of the ITI regimen. Ethanol-lock therapy (ELT) is a treatment modality that has been used to treat CRI in patients with indwelling catheters for home parenteral nutrition and chemotherapy. The aim of this study was to report the success in treating CRI in haemophilia patients using ELT. Three severe haemophilia A patients undergoing ITI regimen who developed CVAD infections resistant to conventional management with antibiotics were treated by ELT according to the institutional technique. All three patients responded well to ELT with clearance of the CVAD infection. There were no adverse side effects. To our knowledge, this is the first report of ELT in patients with haemophilia. The role of ELT needs to be investigated in larger studies for treatment of CRI in patients with bleeding disorders. [source] Forum on: the role of recombinant factor VIII in children with severe haemophilia AHAEMOPHILIA, Issue 2 2009M. FRANCHINI Summary., The development of recombinant FVIII (rFVIII) products, fuelled by the need for improved safety of treatment arising from the dramatic widespread blood-borne virus transmission in the 1970,1980s revolutionized the care of children with haemophilia A over the last two decades. The larger availability of perceived safer replacement therapy associated with the introduction of rFVIII products reassured the haemophilia community and there was a strong push in some Western countries to treat haemophilic children only with rFVIII. Moreover, this significantly contributed in the 1990s to the diffusion outside Northern Europe of prophylactic regimens implemented at an early age to prevent bleeding and the resultant joint damage (i.e. primary prophylaxis), together with the possibility of home treatment. These changes led to a substantial improvement of the quality of life of haemophilic children and of their families. The general agreement that primary prophylaxis represents the first-choice treatment for haemophilic children has been recently supported by two randomized controlled trials carried out with rFVIII products, providing evidence on the efficacy of early prophylaxis over on-demand treatment in preserving joint health in haemophilic children. However, the intensity and optimal modalities of implementation of prophylaxis in children, in particular with respect to the issue of the venous access, are still debated. A number of studies also supports the role of secondary prophylaxis in children, frequently used in countries in which primary prophylaxis was introduced more recently. With viral safety now less than an issue and with the more widespread use of prophylaxis able to prevent arthropathy, the most challenging complication of replacement therapy for children with haemophilia remains the risk of inhibitor development. Despite conflicting data, there is no evidence that the type of FVIII concentrate significantly influences the complex multifactorial process leading to anti-FVIII alloantibodies, whereas other treatment-related factors are likely to increase (early intensive treatments due to surgery or severe bleeds) or reduce (prophylaxis) the risk. Although the optimal regimen is still uncertain, eradication of anti-FVIII antibodies by immune tolerance induction (ITI), usually with the same product administered at inhibitor detection, should be the first-choice treatment for all patients with recent onset inhibitors. This issue applies particularly to children, as most patients undergo ITI at an early age, when inhibitors usually appear. The availability of a stable and long-lasting venous access represents a leading problem also in this setting. These and other topics concerning rFVIII treatment of haemophilic children were discussed in a meeting held in Rome on 27 February 2008 and are summarized in this report. [source] Successful angiographic embolization of recurrent elbow and knee joint bleeds in seven patients with severe haemophiliaHAEMOPHILIA, Issue 1 2009R. KLAMROTH Summary., In haemophilic joints with high-grade arthropathy, bleeds occur that do not respond to replacement therapy of the deficient coagulation factor. The reason may be pathologically reactive angiogenesis in chronic synovitis. Seven patients with severe haemophilia A or haemophilia B experienced recurrent massive bleeds of one elbow joint or knee joint in the absence of trauma. After initial application of factor VIII or IX (fVIII/fIX; 50 IU kg,1 bodyweight), there was only slow and never complete relief of symptoms. Despite intensive secondary prophylaxis maintaining the plasma level of factor concentrate at minimum 50%, new massive bleeds at the same location occurred. Vascular bleeding was suspected. Angiography of the arteries was performed via the femoral artery. Vessels identified as potential bleeding sources were embolized with embolization fluid (ONYX) in eight joints (six elbow and two knee joints). Under low-dose prophylactic treatment (15 IU fVIII or fIX per kg bodyweight for three times per week), no recurrent severe bleed unresponsive to coagulation factor replacement occurred after a mean observation time of 16 months after embolization. The consumption of factor concentrate decreased to one-third of the amount consumed before embolization. In conclusion, angiographic embolization with a non-adhesive liquid embolic agent 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. [source] Intracranial haemorrhage in patients with congenital haemostatic defectsHAEMOPHILIA, Issue 5 2008P. MISHRA Summary., We investigated 52 of 457 patients with congenital factor deficiencies with 57 episodes of intracranial haemorrhage (ICH) between 1998 and 2007. There were 38 severe haemophiliacs, 6 with factor XIII deficiency, 5 with factor X deficiency, 2 factor V-deficient patients, and 1 with type 3 von Willebrand disease (VWD). The median age was 8 years (range 1 month,22 years). Most patients were below 15 years of age (86.5%). All patients with factor X deficiency were between 1 and 5 months of age. ICH was the primary bleeding episode leading to detection of factor deficiency in 19.2% (five patients with severe haemophilia and all patients with factor X deficiency). Trauma caused bleeding in 66%. None of the patients with factor X deficiency had history of prior trauma. Surgery was performed in five patients with subdural haematomas, all of whom survived. Conservative factor replacement with 100% correction for 3 days followed by 50,60% correction for 7 days was possible in 60% patients. Seizures requiring prolonged therapy were noted in eight patients. Death was recorded in 15 patients (29%). Inadequate therapy in the form of delay or insufficient replacement was noted in 7/15 deaths. ICH was seen in 11.3% of all patients with coagulation factor deficiencies. Factor X deficiency presented with ICH at an earlier age. Inadequate replacement therapy including delayed treatment caused nearly 50% of all deaths. Most patients can be managed satisfactorily with adequate replacement therapy alone, with surgery being reserved for those with worsening neurological conditions. [source] Prophylaxis with recombinant factor VIIa for the management of bleeding episodes during immune tolerance treatment in a boy with severe haemophilia A and high-response inhibitorsHAEMOPHILIA, Issue 5 2008J. BLATNY No abstract is available for this article. [source] Cost-utility analysis of Canadian tailored prophylaxis, primary prophylaxis and on-demand therapy in young children with severe haemophilia AHAEMOPHILIA, Issue 4 2008N. RISEBROUGH Summary. Primary prophylaxis is the emerging standard treatment for boys with severe haemophilia. Tailored (escalating-dose) prophylaxis (EscDose), beginning at a low frequency and escalating with repeated bleeding may prevent arthropathy at a lower cost than standard prophylaxis (SP). From a societal perspective, we compared the incremental cost per joint-haemorrhage that is avoided and quality-adjusted-life-year (QALY) gained of SP and EscDose to on-demand (Demand) therapy in severe haemophilia A boys treated to age 6 using a decision analytic model. Costs included factor VIII (FVIII), professional visits and tests, central venous placement/complications, hospitalization, home programmes and parents' lost work-days. Resource utilization was estimated by surveying 17 Canadian clinics. The natural history of bleeding and other probabilities were determined from a longitudinal chart review (n = 24) and published literature. EscDose costs an additional $3192 per joint-haemorrhage that was avoided compared with Demand whereas SP costs an additional $9046 per joint-haemorrhage that was avoided compared with EscDose. Clinic costs and lost wages were reduced by 60,80% for EscDose and SP compared with Demand. EscDose attained more QALYs than SP and Demand on account of less bleeding than Demand and lower need for ports than SP. The incremental cost per QALY for EscDose vs. Demand was $542 938. EscDose was less expensive with similar QALYs compared to SP. Sensitivity analysis was performed on all probability- and cost-estimates, and showed the model was sensitive to the cost of FVIII and the SP and target joint utilities. In conclusion, prophylaxis will substantially improve clinical outcomes and quality of life compared to Demand treatment, but with substantial cost. [source] Domiciliary application of CryoCuff in severe haemophilia: qualitative questionnaire and clinical auditHAEMOPHILIA, Issue 4 2008A. I. D'YOUNG Abstract., The acute management of haemophilic bleeding episodesin the home setting is based on the concept of immediate factor replacement therapy and the PRICE regime , an acronym representing the concepts of Protection, Rest, Ice, Compression and Elevation [1,2]. Integral to this regime is the application of cold therapy, and yet little is known regarding the safe periods of application, or the relative safety of cryotherapy devices such as the CryoCuffÔ when used in the home setting by patients suffering from severe haemophilia and related bleeding disorders. This study examines the subjective patient response to the application of the CryoCuffÔ device in the home setting in terms of the effect on pain, joint swelling and the return to ,pre-bleed status' of the knee, ankle or elbow in patients with severe haemophilia A/B or type III von Willebrand's disease (VWD) immediately following haemarthrosis, and any potential adverse effects related to the device or recommended duration of application as stated in the PRICE guideline (Fig. 1). Twelve patients, either with severe haemophilia A/B or with VWD were recruited and asked to use the CryoCuffÔ device as part of the PRICE regime immediately following the onset of knee-, ankle- or elbow bleeds for the next one year. Each subject was then sent a qualitative questionnaire to determine subjective responses to the device. All patients reported that the application protocol was easy to follow, they were able to apply the device as per the PRICE regime and they were able to tolerate it for the recommended period. Whereas, all the patients felt that the device had a significant impact on alleviation of pain and return to pre-bleed status, 78% of the patients felt that the device led to a significant reduction in swelling around the affected joint. There was no conclusive evidence that the device resulted in any reduction in the amount of factor used to treat the acute bleeding episode, however, no patients reported any perceived delay in achieving haemostasis or required extra factor replacement therapy consequent to the usage of the device. No other adverse effects were reported by participants in this study. Figure 1. ,The qualitative participant questionnaire, given following 1 year of unsupervised use in the home setting immediately following the onset of the symptoms of haemarthroses. [source] Carrier testing in haemophilia A and B: adult carriers' and their partners' experiences and their views on the testing of young femalesHAEMOPHILIA, Issue 3 2008N. F. DUNN Summary., This is a descriptive study, which aims to report adult carriers' and their husbands/partners' experiences of carrier diagnosis and their views as to how these issues should be handled for the next generation. Following an initial pilot, 105 carriers and husbands/partners responded to a postal questionnaire. Most of the adult carriers had been tested because either they or their parents wanted to know their carrier status or they had a son diagnosed with haemophilia. The respondents agreed that the main reasons for testing young potential carriers should be either a family history of severe haemophilia or that the young person or her parents wanted to know her status. Forty per cent (35/87) believed the earliest age for carrier testing should be 0,9 years, 44% (38/87) 10,15 years and 16% (14/87) ,16 years. Respondents aged 18,39 years were more likely to be in favour of testing <2 years. If parents and teenagers disagreed, the majority of parents thought that a test should not be forced, consent refused or results withheld. Genetic counselling provides an important opportunity for parents, who want a very early genetic test, to explore their motivations and balance their desire to prepare and protect their daughter with her right to decide as a teenager. [source] Safety and efficacy of a plasma-derived monoclonal purified factor VIII concentrate during 10 years of follow-upHAEMOPHILIA, Issue 6 2007E. P. MAUSER-BUNSCHOTEN Summary., In 1995, AAFACT®, a new monoclonal purified factor VIII concentrate (FVIII), derived from human plasma, was introduced in the Netherlands. The monoclonal purification based production process includes a viral inactivation step by solvent/detergent treatment. Products manufactured according to this procedure, for example Hemofil M® are used worldwide. The aim of the present study was to assess inhibitor development in a large cohort of previously treated patients (PTPs) who were followed up for 10 years. In addition, efficacy, HIV and hepatitis C virus (HCV) transmission, and allergic reactions were monitored. All 165 patients with severe haemophilia A (FVIII < 1%) known at the van Creveldkliniek who ever used AAFACT® during the period from October 1995 to September 2005 were included. Two of them were previously untreated patients (PUPs) and two others had <50 exposure days. Data on FVIII consumption, number of exposures, bleedings and hospitalization days were collected from start of AAFACT® until last clinical and laboratory evaluation while on this product. At the end of follow-up, 91 patients were still using this plasma-derived FVIII. Median age at start of follow-up was 26 years (range 1,52). None of the patients reported lack of efficacy. Median FVIII consumption per patient during follow-up was 2058 IU kg,1 bodyweight per year, and median number of exposures was 148 per year. During 1029 patient-years of follow-up, one inhibitor was diagnosed in a previously treated patient PTP. This patient developed high titre inhibitor following surgery for which he, during 1 week, had been treated with continuous infusion with recombinant FVIII. No inhibitor occurred during 68 cases of surgery using continuous infusion with AAFACT®. No viral transmissions or other adverse events occurred during 10 years of follow-up; AAFACT® appeared to be an effective and safe FVIII product. [source] Optimizing outcomes for patients with severe haemophilia AHAEMOPHILIA, Issue 2007S. W. PIPE First page of article [source] Pathogenesis of haemophilic synovitis: clinical aspectsHAEMOPHILIA, Issue 2007W. K. HOOTS Summary., 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. [source] Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII geneHAEMOPHILIA, Issue 3 2007G. CASTAMAN Summary., Genetic analysis was carried out in 37 Albanian patients with haemophilia A. The factor VIII intron 22 inversion was detected only in 2/19 (10.5%) apparently unrelated patients with severe haemophilia A, while the intron 1 inversion was absent. A total of 19 different gene mutations were identified. Ten mutations were novel: four null mutations in severe haemophilia A patients (Gln1090X, Cys1832X, 2374delT, 5676insT) and six missense mutations (five in severe haemophilia A) (Ile76Thr, Leu299Pro, Asp525Glu, Cys692Tyr, His1755Leu and Trp1835Cys). None of these novel mutations occurred at CpG hotspots. These results further emphasize the extreme heterogeneity of the molecular basis of haemophilia A. The low prevalence of intron 22 inversion in Albanian patients with severe haemophilia A should be addressed by further studies. [source] Evaluation of pharmacokinetics, efficacy and safety of Immunate® solvent detergent in previously treated patients with severe haemophilia AHAEMOPHILIA, Issue 1 2007L. NEMES Summary., Immunate® Solvent Detergent (S/D) is a plasma derived, purified, human factor VIII (FVIII) , von Willebrand factor (VWF) complex subjected to two virus inactivation/removal processes: S/D and vapor heat treatment. This prospective, multicentre, three-part clinical study evaluated the pharmacokinetics (in comparison to the predecessor product Immunate®), efficacy and safety of Immunate® S/D in 56 previously treated patients with severe haemophilia A. Subjects received Immunate® S/D on-demand, as a prophylactic regimen or both. The results of the pharmacokinetic population demonstrate that Immunate® and Immunate® S/D were equivalent with respect to the FVIII , and to the retrospectively VWF , parameters assessed. A total of 623 bleeding episodes were reported in 47/56 subjects. The duration of prophylaxis ranged from 0.1--5.2 months with a total of 175.6 months. The median number of bleeds per month in subjects on prophylaxis was 0 (range 0--10). Ninety-six percent of bleeding episodes were rated as having an excellent or good response. For most bleeding episodes (89%), subjects required only one infusion with a mean dose of 29.6 IU kg,1. No FVIII inhibitory antibodies were observed in any subject. No related serious adverse events were reported. Thus, the introduction of S/D treatment did not alter the PK characteristics and function of VWF and FVIII molecules of Immunate® S/D which is effective and safe for treatment of bleeding episodes, management of surgical procedures, and prophylaxis. [source] Force fluctuations during the Maximum Isometric Voluntary Contraction of the quadriceps femoris in haemophilic patientsHAEMOPHILIA, Issue 1 2007L.-M. GONZÁLEZ Summary., In the general population, the degenerative processes in joints are directly related to adult age, and osteoarthrosis represents the most frequent musculoskeletal alteration. In the haemophilic patient, the degenerative processes in the joint begin at very early ages, and are directly related to musculoskeletal bleeding episodes, which are occasionally subclinical and constitute haemophilic arthropathy. In the haemophilic patient, arthropathy constitutes the most frequent, severe and disabling pathology, and its assessment includes muscular force-related parameters. We have studied the value of Maximum Isometric Voluntary Contraction in the quadriceps femoris of 46 subjects, 28 haemophiliacs (16 severe, eight moderate and four mild) and 18 healthy individuals with a view to establishing appropriate values of force and to restoring physical therapy recommendations. The maximum force values were significantly greater (P < 0.001) in the healthy individuals group. The mild haemophiliacs group also presented significant differences of force (P < 0.05) in relation to the severe and moderate haemophilic patient groups. The mild and severe haemophilia patients presented greater fluctuations of force (P < 0.001) than the control group, the haemophilia group have a minor skill to produce constant force. The seriousness of the arthropathy in the knee is directly related to diminished values of maximum force. Our work evidences that patients with severe haemophilia present a greater degree of arthropathy in relation to moderate and mild haemophilia patients. Haemophilic arthropathy is associated with muscular atrophy and strength deficit. In haemophilic patients, the deficit of maximum force and the presence of fluctuations may suggest an increased risk of bleeding during physical activities and the need to programme specific physical therapy guidelines which increase muscular power through resistance training. [source] Surface electrical stimulation of the quadriceps femoris in patients affected by haemophilia AHAEMOPHILIA, Issue 6 2006F. QUEROL Summary., Eighteen sessions of surface electrical stimulation was applied to the quadriceps femoris of the left leg of ten male subjects affected by severe haemophilia A, while ten healthy subjects constituted the control group. The isometric strength, the electromyographic activity and the diameter of the rectus femoris were measured in both legs before and after a six-week treatment period. After the treatment, the people affected by haemophilia showed a gain in strength by 13.8% in the stimulated leg and by 17.1% in the non-stimulated one. No changes were detected in the electromyographic activity. On the contrary, the diameter of the rectus femoris of the stimulated leg increased in 24.34%, while no significant change was found in the nonelectrically stimulated leg. These results show for the first time that the application of electrical stimulation in haemophilic patients contributes to the gain and development of strength and trophism. The results also show that the surface electrical stimulation does not represent a threat to the patients' health, and that can be used for therapeutic purposes. [source] Torticollis as a sign of cervico-thoracic epidural haematoma in an infant with severe haemophilia AHAEMOPHILIA, Issue 6 2006G. D. E. CUVELIER Summary., We describe the case of a spinal epidural haematoma in an infant with severe haemophilia A. Initial signs and symptoms were non-specific resulting in delay of the diagnosis and more definitive therapy. The patient eventually developed torticollis, acute flaccid paralysis of the upper extremities, and respiratory distress, prompting radiological examination of the spinal cord. The patient was treated with recombinant FactorVIII and laminectomy. Neurological recovery was complete 3 months following the event. We hypothesize that infants with haemophilia may be at higher risk for this rare complication because of their increasing mobility, frequent falls while cruising furniture, and lack of prophylactic factor replacement. Non-specific signs such as irritability without a focus should alert the clinician to this diagnostic possibility. Torticollis should prompt rapid radiological evaluation of the cervical spine with magnetic resonance imaging to avoid delay in diagnosis. [source] Periodontal status and IOTN interventions among young hemophiliacsHAEMOPHILIA, Issue 4 2006S. AZHAR Summary., ,Fifty-two young individuals suffering from severe haemophilia A and B volunteered to be compared with school- and college-going students for oral health status description and subsequent management. A total of 244 students (84.42% boys and 15.58% girls) with the age group of 13,23 years were divided into two groups, A and B (controls). The purpose of this study was to increase awareness about evidence-based dental practices by oral examinations followed by comparisons of periodontal health and prevalence of malocclusions among medically compromised students and healthy controls. Results described the oral health in severe haemophilic population to be compromised with combined simplified health index score of 0.50 and Decayed/Modified/Filled Teeth (DMFT) index score of 2.07 when compared with 0.42 and 0.95, respectively, among group B. Although prevalence of malocclusion and orthodontic treatment needs among group A were higher, yet it was not confirmed as a reason for degraded dental and periodontal status. However, spontaneous and/or toothbrush (trauma)-induced gingival bleeding episodes among group A could be explained as factors discouraging oral hygiene maintenance, particularly self-administered measures. Four haemophiliacs presented with symptoms of Temporomandibular Joint Dysfunction Syndrome (TMPDS). Evidence-based oral medicine and clinical practices need to be encouraged and applied to enhance the quality of life among haemophiliacs, particularly in developing world. Dental treatment needs of haemophilic population appear to be greater and maybe incorporated in routine dental practices, at institutional and individual levels. [source] Fatal central venous catheter-related infection in haemophiliaHAEMOPHILIA, Issue 2 2006S. E. CRARY Summary., Central venous catheters (CVC) are frequently used in children with haemophilia to deliver factor infusions for the treatment or prophylaxis of bleeding. Complications of CVCs in patients with haemophilia include thrombosis and infection. We report a young boy with severe haemophilia A and an inhibitor who developed disseminated Staphylococcus aureus infection most likely related to a CVC. To our knowledge, this is the first reported case of fatal sepsis secondary to a CVC in a patient with haemophilia. [source] Variability in clinical phenotype of severe haemophilia: the role of the first joint bleedHAEMOPHILIA, Issue 5 2005K. van Dijk Summary., To quantify variation in clinical phenotype of severe haemophilia we performed a single centre cohort study among 171 severe haemophilia patients. Age at first joint bleed, treatment requirement (i.e. annual clotting factor use), annual bleeding frequency and arthropathy were documented. Because treatment strategies intensified during follow-up, patients were stratified in two age groups: patients born 1968,1985 (n = 91), or 1985,2002 (n = 80). A total of 2166 patient-years of follow-up were available (median 12.0 years per patient). Age at first joint bleed ranged from 0.2 to 5.8 years. Patients who had their first joint bleed later needed less treatment and developed less arthropathy. In patients born 1968,1985 during both on-demand and prophylactic treatment, the 75th percentile of annual joint bleed frequency was consistently four times as high as the 25th percentile. In both age groups variation in annual clotting factor use between 25th and 75th percentiles was 1.4,1.5 times for prophylaxis and 3.8 times for on-demand treatment. To conclude, the onset of joint bleeding is inversely related with treatment requirement and arthropathy and may serve as an indicator of clinical phenotype. Thus, providing a starting point for aetiological research and individualization of treatment. [source] Bone properties and muscle strength of young haemophilia patientsHAEMOPHILIA, Issue 4 2005B. Falk Summary., Purpose:, To evaluate bone properties, muscle strength and the relationship between the two, in young (7.0,17.7 years) haemophilia patients (h) and healthy boys (c). Subjects:, Twenty-seven boys with severe haemophilia and 33 healthy boys, of similar age, body mass, height, (mean ± sd for h and c, respectively: 11.2 ± 3.2 vs. 11.4 ± 2.9 years, 42.6 ± 16.6 vs. 41.6 ± 17.3 kg, 145 ± 18 vs. 146 ± 17 cm) and pubertal stage according to secondary sex characteristics, volunteered for the study. all subjects were physically inactive (as determined by questionnaire). Methods:, Subjects performed isokinetic elbow and knee extension and flexion tests at two angular velocities (biodex system ii dynamometer). Bone properties were evaluated by qualitative ultrasound (sunlight omnisenseTM), at the distal radius and tibial mid-shaft. H subjects received prophylactic factor viii treatment within the 24 h preceding testing. No test was performed in the presence of haemorrhage. Results:, Muscle strength was consistently higher in c compared with h, especially in the lower limbs (e.g. knee extension: 1.80 ± 0.44 vs 1.48 ± 0.53 N·m·kg,1 body mass, respectively, p = 0.01). No differences were observed in tibial or radial speed of sound between groups. Correlations between muscle strength and bone properties were observed only in the lower limbs and only in c (r = 0.37,0.48). Conclusion:, Muscle strength, especially lower limbs' strength, was lower in haemophilia patients compared with a matched, similarly inactive population of healthy boys. Nevertheless, at this age range, this relative weakness is not associated with inferior bone properties. [source] Changing pattern of care of boys with haemophilia in western European centresHAEMOPHILIA, Issue 2 2005H. Chambost Summary., Haemophilia management is not uniform among countries, even within western Europe, that have close economic, social and cultural relationship. The European Paediatric Network PedNet aims to share experiences in the field of the care of boys with haemophilia. In 1998, a PedNet survey has shown significant disparities in 20 centres from 16 countries, particularly as regards the implementation of prophylaxis regimen. This survey has been updated in 2003 to describe the current status of haemophilia management in 22 centres and the changing pattern of care of boys with severe haemophilia in western Europe. Regular, continuous long-term prophylaxis is provided in all PedNet centres, more than 50% and 80,100% of boys being treated this way in 20/22 and 15/22 centres respectively. Twenty of the 22 centres (91%) recommend continuous prophylaxis (primary or secondary A) for a new patient. The use of recombinant factor VIII concentrates was already widespread in 1998 and a further expansion of recombinant products has been observed over the last 5 years. Recombinant FVIII is now used exclusively in nine centres and for more than 80% of boys with haemophilia A in nine other centres. The use of recombinant and plasma derived FIX is more balanced: among 18 centres where boys with haemophilia B are treated, 14 use recombinant FIX, and nine administer it to a majority of patients. Other modifications of practice have been stressed in this survey, such as more targeted use of central venous devices in the youngest boys and more extensive characterisation of genetic mutations. [source] Management of oral bleedings with recombinant factor VIIa in children with haemophilia A and inhibitorHAEMOPHILIA, Issue 1 2005P. Laguna Summary., Dental extraction in patients with haemophilia A and high-titre inhibitor is always a high-risk procedure, which often presents a lot of problems associated with bleeding. Prothrombin complex concentrates or recombinant activated factor VII (rFVIIa) has been used to control bleeding. rFVIIa was administered to five boys with severe haemophilia A complicated with inhibitor, who underwent seven dental extractions. The age of the patients ranged between 8 and 13 years (median 10 years). The concentrate was administered in doses of 90,100 ,g kg,1 body weight. Duration in the therapy and intervals between rFVIIa doses depended on the severity of bleeding. rFVIIa was proven to be highly effective and no side-effects of the product were observed. [source] The epidemiology of inhibitors in haemophilia A: a systematic reviewHAEMOPHILIA, Issue 4 2003J. Wight Summary., This paper emphasizes the importance of distinguishing between the prevalence, incidence and cumulative incidence of inhibitors in haemophilia A. Incidence and cumulative incidence data will include patients with transient inhibitors or whose inhibitors have been eliminated by treatment. As these will not be included in prevalence data, prevalence studies will tend to give rise to lower figures than incidence studies. As a result, the most accurate estimates of the true risk of inhibitor development comes from prospective studies of newly diagnosed haemophiliacs who are tested regularly for the presence of inhibitors. This paper reports a systematic review of the best available evidence relating to the epidemiology of inhibitors in haemophilia A. Cohort studies, registry data reporting incidence or prevalence of inhibitors in patients with haemophilia A, and prospective studies of factor VIII (FVIII) in the treatment of previously untreated patients which reported the development of inhibitors as an outcome, were included in the review. The overall prevalence of inhibitors in unselected haemophiliac populations was found to be 5,7%. The cumulative risk of inhibitor development varied (0,39%). Incidence and prevalence were substantially higher in patients with severe haemophilia. Studies of patients using a single plasma-derived FVIII (pdFVIII) preparation reported lower inhibitor incidence than those using multiple pdFVIII preparations or single recombinant FVIII preparations. Incidence data should be used to estimate the likely demand for treatments aimed at eliminating inhibitors, whereas the best estimates of the overall burden to the National Health Service (NHS) of treating bleeding episodes in patients with continuing inhibitors will come from prevalence studies. [source] Prophylactic therapy for haemophilia: early experienceHAEMOPHILIA, Issue 2003E. Berntorp Summary., During the 1960s, it was reported from Sweden that haemophiliacs with factor levels above 1% rarely develop arthropathy. This observation suggested that severe haemophilia could be converted to a milder form by regular infusions with factor concentrate. After several earlier publications, a report was published in 1992 that detailed 25 years' experience with prophylaxis in 60 patients from the Malmö centre. The results showed that starting prophylaxis early in life with a dose regimen that would prevent factor VIII or IX plasma levels from falling below 1% could prevent the development of haemophilic arthropathy. Also, older age groups who had received less intensive treatment, and who started prophylaxis later in life, were still in a much better condition than historic controls. In the 1970s several small but well-controlled studies from the USA, Germany and Italy clearly showed the benefit of prophylaxis in reducing bleeding frequency. Early experience from the Netherlands was published in 1971. Since these early studies, the results have been corroborated from many countries and in a large multinational study. Although the benefits of prophylaxis seem unquestionable, several research questions remain to be better elucidated, such as when to start and when to stop, dosing and dose interval, and how to assess the long-term treatment effects. These issues are of great economic importance, and the need for health economical studies is obvious. [source] A global view on prophylaxis: possibilities and consequencesHAEMOPHILIA, Issue 2003A. D. Shapiro Summary., Prophylactic infusion therapy, both primary and secondary, has proven of great benefit to patients with haemophilia, specifically those with severe disease or bleeding episodes and patterns that have lead to development of arthropathy. At this time, optimal outcome in patients with severe haemophilia has been proven achievable with primary prophylaxis initiated at an early age in a regimen of three times weekly or every other day for patients with factor VIII deficiency, and twice weekly for those with factor IX deficiency. Despite the demonstrated benefit of primary prophylaxis, this treatment regimen has not been uniformly adopted into clinical practice even in developed countries. In developing countries, where issues of allocation of precious health care resources are of paramount importance, access to adequate treatment for persons with haemophilia on a programme of on-demand therapy is not commonly available; the cost of primary prophylaxis, even with intermediate purity plasma-derived factor concentrates or plasma fractions such as cryoprecipitate, renders this treatment the exception rather than the rule. [source] Prophylactic versus on-demand treatment strategies for severe haemophilia: a comparison of costs and long-term outcomeHAEMOPHILIA, Issue 6 2002K. Fischer Summary., A multicentre study was performed to compare clotting factor use and outcome between on-demand and prophylactic treatment strategies for patients with severe haemophilia. Data on treatment and outcome of 49 Dutch patients with severe haemophilia, born 1970,80, primarily treated with prophylaxis, were compared with those of 106 French patients, who were primarily treated on demand. Dutch patients received intermediate dose prophylaxis, for a median duration of 12.7 years. Patients primarily treated with prophylaxis had fewer joint bleeds per year (median 2.8 vs. 11.5), a higher proportion of patients without joint bleeds (29% vs. 9%), lower clinical scores (median 2.0 vs. 8.0), and less arthropathy as measured by the Pettersson score (median 7 points vs. 16 points). Mean annual clotting factor use was equal at 1488 ± 783 IU kg,1 year,1 (mean ± standard deviation) for patients primarily treated with prophylaxis and 1612 ± 1442 IU kg,1 year,1 for patients primarily treated on demand. These findings suggest that, compared with a primarily on-demand treatment strategy, a primarily prophylactic treatment strategy leads to better outcome at equal treatment costs in young adults with severe haemophilia. [source] | ||||||||||