Haemophilia : the official journal of the World Federation of Hemophilia
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Multicenter Study
Primary and rescue immune tolerance induction in children and adults: a multicentre international study with a VWF-containing plasma-derived FVIII concentrate.
Most studies on immune tolerance induction (ITI) therapy in haemophilia A patients are focused on primary ITI in children. Here we report on the ITI outcome in a large retrospective cohort, including adults and patients with rescue ITI, treated with a pdFVIII/VWF concentrate. Retrospective data from haemophilic patients (FVIII< 2%) with inhibitors from 22 centres in Spain, Italy and Germany, who underwent primary or rescue ITI with pdFVIII/VWF concentrate, were collected. ⋯ Eight of nine (85%) patients with poorest prognosis (three or more of the known risk factors of poor response to ITI) achieved success (CS+PS). CS of 100% was observed in eight primary ITI patients with titre at start of ITI ≤2.5 BU and inhibitor peak ≤25 BU. The favourable response rates in primary and rescue ITI in children and in adult patients, even in the presence of poor prognostic factors, should be encouraged for broadening the indication of immune tolerance therapy in haemophilia A patients with inhibitors.
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Multicenter Study
Cancer detection and management in patients with haemophilia: a retrospective European multicentre study.
Lymphomas or hepatocarcinomas related to blood-borne transmitted diseases are well-known malignancies in persons with haemophilia (PWH). However, rising life expectancy has increased the number of PWH suffering from other malignancies. This study aimed to collect cancer occurrence data in PWH followed in five European haemophilia treatment centres (Brussels, Geneva, Marseille, Montpellier and Paris-Bicêtre) over the last 10 years and to analyse some particular features of cancer occurring in PWH. ⋯ Thus, oncological treatments are not contraindicated and should not be withheld in PWH assuming that adequate haemostasis correction is undertaken. As shown by our study results, a change in bleeding pattern in adult PWH should raise suspicion of a malignancy. Intensive substitution must be considered a risk factor for inhibitor development.
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Randomized Controlled Trial Clinical Trial
Effectiveness of two modalities of physiotherapy in the treatment of haemophilic arthropathy of the ankle: a randomized pilot study.
Although different techniques of physiotherapy have been described for the treatment of haemophilic arthropathy (HA) of ankle, hardly any studies have been applied manual therapy or educational physiotherapy and home exercises. The aim of this study was to assess the effectiveness of manual therapy and educational physiotherapy in the treatment of HA of the ankle. Thirty-one patients with HA of the ankle with a mean age of 35.29 (SD: 12.877) years randomized to manual therapy group (n = 11), educational group (n = 10) and a control group (n = 10). ⋯ In the educational group there were improvements, but not significant, in the measured variables. No patient had ankle haemarthrosis during the study. The treatment with manual therapy improved the circumference of gastrocnemius and lessened pain in the patients with haemophilic arthropathy of the ankle.
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Multicenter Study
Haemophilia Experiences, Results and Opportunities (HERO) Study: survey methodology and population demographics.
Psychosocial factors have a significant impact on the quality of life of persons with haemophilia (PWH). The Haemophilia Experiences, Results and Opportunities (HERO) initiative was developed to provide a greater understanding of the psychological components which influence the lives of PWH. This article describes the HERO methodology and the characteristics of respondents. ⋯ PWH reported arthritis (49%) and HIV/HCV infections (18%/43%) related to haemophilia. Most PWH and parent respondents had received formal education (85%/89%) and were employed full- or part-time (60%/72%). HERO is one of the largest multinational studies focused on psychosocial issues in haemophilia, including historical and treatment information that will allow for multivariate analyses of determinants of health in haemophilia.
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Case Reports
Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.
Coagulation factor XIII (FXIII) exists as heterotetramer (FXIII-A₂B₂) in the plasma and as dimer (FXIII-A₂) in cells. Activated FXIII mechanically stabilizes fibrin and protects it from fibrinolysis by cross-linking fibrin chains and α₂-plasmin inhibitor to fibrin. FXIII is essential to maintaining haemostasis, and its deficiency causes severe bleeding diathesis. ⋯ Proband2 was homozygote for a novel single nucleotide deletion (c.212delA) leading to early stop codon. The discovered mutations explain the severity of clinical symptoms and the laboratory data. Methods precise in the low activity/antigen range are required to draw valid conclusion on phenotype-genotype relationship.