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Background Current research on osteoporosis (OP) in hemophilia is insufficient. The suitability of high-resolution peripheral quantitative computed tomography (HR-pQCT) for evaluating osteoporosis in hemophilia remains unclear. Aim To investigate the current status of osteoporosis and the applicability of HR-pQCT in adult hemophilia patients. Methods Thirty three hemophilia patients aged 23–49 years were recruited. X-ray examinations were performed on the bleeding joints. Dual energy X-ray absorptiometry (DXA) and HR-pQCT were used to assess bone mineral density (BMD). The HR-pQCT values of the distal tibia and radius were compared between hemophilia patients and healthy controls(HCs). Results All bleeding joints showed local osteoporosis on X-ray. Only 33.3% of patients had a hip BMD lower than the expected value according to DXA. The Tb.vBMD(98.5 ± 44.2 mg/cm 3 ), Tt.Ar(612.5 ± 163.5mm 2 ),Tb.Ar(487.0 ± 175.6mm 2 ), Ct.Ar(117.0 ± 25.7mm 2 ), Tb.BV/TV(0.2 ± 0.1), Tb.N(0.9 ± 0.3 1/mm), Ct.Pm(96.3 ± 13.8 mm) of the distal tibia and Tt.Ar(248.4 ± 53.1mm 2 ),Tb.Ar(186.0 ± 55.1mm 2 ), Ct.Ar(66.1 ± 14.4 mm 2 ), Ct.Pm(68.1 ± 7.1 mm) of the distal radius in the hemophilia group was significantly lower than the HCs(tibia Tb.vBMD:186.4 ± 44.3mg/cm 3 , Tt.Ar:906.8 ± 135.0mm 2 ,Tb.Ar:743.7 ± 137.6mm 2 , Ct.Ar:169.3 ± 21.9mm 2 ,Tb.BV/TV:0.3 ± 0.1, Tb.N:1.5 ± 0.2 1/mm,Ct.Pm:117.8 ± 8.2 mm; radius Tt.Ar:285.7 ± 35.6 mm 2 , Tb.Ar:83.8 ± 7.9mm 2 , Ct.Ar:0.3 ± 0.1mm 2 , Ct.Pm:80.2 ± 4.3 mm) with statistically significant differences ( p  < 0.05). Correlation analysis showed a positive correlation ( r  = 0.768, p  = 0.016) between femoral neck BMD with DXA and total volumetric BMD(Tt.vBMD) at the distal tibia. Conclusion The bone health status of adult hemophilia patients in China is worrying. The occurrence of OP may be accompanied by varying degrees of bone loss, bone destruction, and structural abnormalities observed in both trabecular and cortical bones of the upper and lower limbs. The condition of the trabecular bones in the lower limbs is particularly severe. The correlation between BMD measurements obtained from HR-pQCT and DXA is strong.

Numerous challenges confront adult hemophilia patients with inhibitors, including difficulty in controlling bleeding episodes, deterioration of joints, arthritic pain, physical disability, emotional turmoil, and social issues. High-intensity treatment regimens often used in the treatment of patients with inhibitors also impose significant scheduling, economic, and emotional demands on patients and their families or primary caregivers. A comprehensive multidisciplinary assessment of the physical, emotional, and social status of adult hemophilia patients with inhibitors is essential for the development of treatment strategies that can be individualized to address the complex needs of these patients.

In a randomized, multicenter trial involving boys with severe hemophilia A, the incidence of neutralizing antibodies to factor VIII was 87% higher with recombinant factor VIII products than with plasma-derived factor VIII products. Hemophilia A is an inherited bleeding disorder characterized by plasma deficiency of coagulation factor VIII. 1 , 2 A major complication in 30% of patients is the occurrence of alloantibodies (inhibitors) that inactivate factor VIII activity and may nullify replacement therapy. 3 – 6 Risk factors include unmodifiable patient-related factors such as residual plasma factor VIII concentration and gene mutation. 7 – 9 Putative treatment-related risk factors are early replacement therapy and the source of factor VIII (i.e., human plasma or recombinant DNA technology). 3 , 8 , 10 – 13 Experimental studies have shown that plasma-derived factor VIII in complex with the chaperone protein von Willebrand factor, which masks . . .

Emicizumab is a humanized bispecific antibody that mimics the cofactor function of factor VIII. In a dose-escalation study in Japanese persons with hemophilia A, including those with factor VIII inhibitors, emicizumab markedly reduced the number of bleeding episodes. Hemophilia A is a serious bleeding disorder caused by a deficiency of clotting factor VIII. Approximately 50% of patients have severe hemophilia A, 1 defined as less than 1% residual factor VIII activity (<1 IU per deciliter). 2 Such patients have severe bleeding from early childhood, and without appropriate treatment, recurrent bleeding into joints can lead to irreversible hemoarthropathy. 3 , 4 Standard treatment for hemophilia A includes regular prophylaxis and episodic treatment with recombinant or plasma-derived factor VIII. The goals of prophylaxis with factor VIII are to increase factor VIII activity to at least a moderate level (1 to 5 IU per deciliter) . . .

Background Physiotherapy is recommended for people with hemophilic arthropathy (PwHA) to improve musculoskeletal health and is typically administered in 2 or 3 sessions per week. We aimed to investigate the effects of once a week comprehensive physiotherapy and home exercise on musculoskeletal system of PwHA. Methods In this study 19 young PwHA with knee and/or ankle were non-randomly divided into two groups: The Home Exercise Group (HEG) and the Comprehensive Physiotherapy Group (CPG). Joint health was evaluated with the Hemophilia Joint Health Score (HJHS), muscle strength (MS) with manual muscle tester, range of motion (ROM) with universal goniometer, pain with Numerical Pain Scale (NPS). The following functional tests were used: 6 min Walking Test (6MWT) for walking capacity, Functional Reach Test (FRT) for dynamic balance and Fitlight ® system for visuomotor reaction time (VMRT). The frequency of hemarthrosis (FoH) in the last 6 weeks was obtained from the self-recorded data. The CPG received comprehensive physiotherapy once a week, including manual therapy, neuromuscular electrical stimulation and supervised exercises, and they performed home exercises for the other two days of the week. The HEG only performed home exercises 3 days a week. All the treatments lasted 6 weeks and evaluations were repeated. Results Compared with the HEG, the CPG significantly ameliorated for NPS, FoH, HJHS, VMRT (time and mean), 6MWT, all MS and several ROMs. CPG significantly improved in all outcomes except for 1 ROM. The HEG significantly improved in FoH, HJHS, VMRT (time), 6MWT and MS, but not in the ROMs. Conclusion Comprehensive physiotherapy once a week and continuing home exercise significantly improve joint health, functionality and balance, and reduce pain and hemarthrosis in PwHA. Trial registration The study was registered at Clinicaltrials.gov (Study ID NCT06331091, retrospectively registered).

A fusion protein comprising factor IX and the dimeric Fc domain of IgG1 has a half-life that is five times as long as that of native factor IX, allowing prophylactic injections to be spaced as far as 2 weeks apart while maintaining levels of factor IX that are sufficient to prevent bleeding. In patients with severe hemophilia B, recurrent bleeding leads to painful hemarthroses, disabling hemophilic arthropathy, and other sequelae. 1 , 2 Prophylactic replacement of coagulation factor IX is associated with improved clinical outcomes 3 – 7 ; however, the relatively short half-lives of currently available factor IX products necessitate frequent intravenous injections (two or three times weekly) to maintain protective levels (at or above 1 IU per deciliter). 8 , 9 The frequency of injections is a considerable burden, cited by patients as a key deterrent to undertaking prophylactic treatment. 10 Various strategies to reduce this burden and improve the treatment of hemophilia B are under investigation, . . .

In this long-term follow-up study, men with hemophilia B had steady production of functional factor IX after gene transfer with an adeno-associated viral vector. Patients had a marked reduction in bleeding episodes and factor IX replacement with minimal toxicity. Hemophilia B, an X-linked recessive bleeding disorder, results from a defect in the gene encoding coagulation factor IX, a serine protease that is critical for blood clotting. Patients with functional plasma levels of factor IX that are less than 1% of the normal value (1 IU per deciliter) have a severe phenotype characterized by frequent spontaneous bleeding episodes that result in chronic, debilitating arthropathy and occasionally death. 1 Current treatment to prevent these bleeding episodes entails lifelong intravenous injections of factor IX every 2 or 3 days. Although this treatment is effective in preventing spontaneous bleeding episodes, it is not curative . . .

Hemophilia A and B are disorders associated with the deficit of coagulation factors VIII and IX. Was to determine the incidence of complications in a cohort of patients diagnosed with moderate and severe hemophilia A or B under treatment in a specialized institution. A retrospective study of a cohort of patients with replacement therapy for hemophilia A or B, evaluating treatment and complications between January/2012 and July/2019. Sociodemographic, clinical and disease management-related variables were extracted from the medical records. Time to inhibitor development and rate associated with bleeding and hospitalizations were evaluated. A total of 159 male patients were identified with hemophilia A (n = 140; 88.1%) and B (n = 19; 11.9%) with a mean follow-up of 5.9±2.3 years. The mean age was 23.6±16.1 years, hemophilia was reported as severe in 125 patients in hemophilia A (89.3%) and 13 patients in hemophilia B (68.4%). Primary prophylaxis was registered in 17.0% of patients, 44.7% secondary, and 38.3% tertiary, with recombinant factors (n = 84; 52.8%) followed by plasma derived factors (n = 75; 47.2%). The incidence of inhibitor development was 0.3 per 100 patients/year, with mean time to event of 509 days. The incidence of bleeding was 192 per 100 patients/year, especially at the joint (n = 99; 62.3%) and muscle (n = 25; 15.7%) level. The incidence of hospitalization was 3.7 per 100 patients/year. The most common complication was joint bleeding which was expected in this type of patients. Low proportion of patients developed factor inhibitors during the follow up.

People with haemophilia (PWH) experience acute pain during joint bleeds and might develop chronic pain due to joint degeneration. However, there is a lack of standardized measures to comprehensively assess pain in PWH. This study aimed to develop a multidimensional questionnaire for haemophilia-related pain, the Multidimensional Haemophilia Pain Questionnaire (MHPQ), and to present initial validation data among adults.The questionnaire distinguishes between acute/chronic pain and queries about pain locations, duration, frequency, triggering factors, intensity, interference, strategies, specialists for pain management and satisfaction with treatment. An initial version was tested with 16 patients to ensure item comprehensibility and face validity. The final version was answered by 104 adults, with 82 (78.8%) reporting haemophilia-related pain in the previous year (mean age = 43.17; SD = 13.00). The non-response analysis revealed good item acceptability. Exploratory and confirmatory factor analysis (EFA/CFA), reliability (internal consistency, test-retest, inter-item and item-total correlations) and convergent validity were analysed for the intensity and interference dimensions of the questionnaire. A combined EFA with these two constructs supported a 2-factor structure distinguishing intensity (α = 0.88) from interference items (α = 0.91). CFA was tested for the interference dimension, demonstrating suitability for this sample. Item-total correlations were >0.30 on both dimensions and most inter-item correlations were <0.70. Test-retest reliability (n = 42) was good for intensity (r = 0.88) and interference (r = 0.73), and convergent validity was confirmed for most hypotheses (r>0.30).This questionnaire is a comprehensible tool, achieving a thorough assessment of relevant pain dimensions. The MHPQ can help guide treatment recommendations by highlighting relevant topics and contributing to more effective, integrated treatments.

haemophilia is an inherited bleeding disorder caused by a deficiency in one of the blood coagulation factors. For people affected by severe haemophilia, the deficiency can cause spontaneous internal bleeding. Most young people with severe haemophilia in the UK follow a preventative treatment regimen (prophylaxis) consisting of several intravenous injections of factor concentrate each week. There is good evidence that prophylaxis reduces bleeds whilst also improving quality of life. However, levels of adherence among young people with haemophilia reported in the existing literature vary widely and are predominately based on estimations made by healthcare professionals and parents. Additionally, drivers of (non)adherence among young people specifically have not been evidenced. to assess self-reported adherence among young people with haemophilia, provide evidence of psychosocial predictors of adherence, and to establish the associations between non-adherence and number of bleeds and hospital visits. 91 participants were recruited during outpatient appointments in 13 haemophilia centres across England and Wales, and invited to complete a questionnaire assessing self-reported adherence (VERITAS-Pro), Haemophilia-related pain and impact of pain, Illness Perceptions, Beliefs about Medications, Self-efficacy, Outcome expectations, Positive and Negative Affect, and Social support. Number of hospital visits and bleeds during the previous six months were collected from medical files. Of 78 participants with complete data, just 18% had scores indicating non-adherence. Psychosocial predictors differed between intentional (skipping) and un-intentional (forgetting) non-adherence. Overall, however, better adherence was reported where participants perceived the need for prophylaxis was greater than their concern over taking it as well as having a positive expectancy of its effectiveness, good social support and a stronger emotional reaction to having haemophilia. The findings indicate that adherence is generally good, and that assessing illness and treatment beliefs, social support and outcome expectations may play a valuable role in identifying which individuals are at risk of non-adherence. Interventions aimed at improving adherence should particularly consider improving social support, reducing patients' concerns about prophylaxis, increasing their belief in the necessity of prophylaxis, and increasing positive outcome expectations.