Haemophilia最新文献

Introduction: Radioactive synovectomy (RSO) is an alternative to arthroscopic synovectomy (AR), for treating synovitis. RSO reduces the number of hemarthroses, being less invasive and less costly.

Objective: To analyse the costs of RSO compared to AR in the treatment of patients with haemophilia in Brazil, using real-world data (RSO) and modelling (AR).

Methodology: We reviewed data from patients with haemophilic synovitis who underwent RSO in two centres in Brazil, from 2003 to 2019. Data of RSO came from actual patients, while those of AR were estimated. We analysed the expenditures for clotting factor concentrates (CFC), hospital stays, and postoperative care. Cost savings of RSO were based on the frequency of hemarthroses 6 months pre and post procedure. The radioisotopes used were Yttrium90 and Samarium153. The Pettersson score was used to assess the severity of haemophilic arthropathy.

Results: The study included 750 patients who underwent RSO in knees (N = 349), ankles (N = 190), and elbows (N = 211). The median age of patients was 12 years. For RSO in knees, the costs were nearly USD 6000, while AR costs were USD 49,000. The overall costs with CFC for knee hemarthroses decreased from USD 43,506.94 to USD 6,018.64/patient/semester post-RSO. Similar savings were seen with the ankle and elbow.

Conclusion: RSO offers a clinically effective and economically advantageous alternative compared to AR, for haemophilic synovitis. Integrating RSO into treatment protocols can reduce healthcare costs and improve patient outcomes. Further work is needed, to confirm these findings in other countries.

Introduction: Physiotherapists are irreplaceable in providing safe, tailored physical activity (PA) and exercise in patients with haemophilia (PwH).

Aim: Evaluating physiotherapists' knowledge, self-perceived competence, confidence, role, assumptions for safety of activities and barriers regarding PA and exercise in PwH was aimed.

Methods: A cross-sectional survey was conducted amongst 200 physiotherapists. Knowledge was assessed via a 20-item true/false test. Assumptions for safety were assessed by rating 10 paired physical activities. Self-perceptions and barriers were assessed by the level of agreement with relevant statements.

Results: Participants (median age = 32 years, 69.5% female) had a median of 9 years' experience, predominantly working in orthopaedics; 88% had no prior experience with PwH. Knowledge assessment revealed that the highest correct responses were for items on haemophilia not being contagious and the benefits of exercise (up to 94.5%), while the lowest were for statements regarding joint-specific strengthening, disease severity and resistance training safety (12%-29.5%). Assumptions for safety levels varied substantially across activities. Many participants (87.5%) believe that it is a physiotherapist's duty to determine appropriate PA and exercise for PwH. However, a significant portion of participants reported that they either lack the necessary knowledge, skills or confidence. Patients' and their families' misconceptions about exercise, and insufficient cooperation amongst healthcare professionals, were the most common barriers.

Conclusion: Our study revealed that while physiotherapist recognize their professional responsibility, they feel that they lack the necessary specialized knowledge, skills and confidence. The creation of a specialized, multidisciplinary education program might be beneficial to address this gap.

Background: In patients with unexplained bleeding and normal haemostatic parameters, heritable disorders of connective tissue (HDCT) may be an underlying cause due to vascular fragility, as observed in Ehlers-Danlos syndrome (EDS) or Marfan syndrome (MS). This study aims to investigate the molecular profile of patients with joint hypermobility (JH) and unexplained bleeding and to establish genotype-phenotype associations.

Methods: Forty-three female patients with JH and bleeding symptoms were recruited from the haemophilia unit and rehabilitation service at Vall d'Hebron University Hospital. Whole-exome sequencing (WES) was performed to identify genetic variants.

Results: Candidate variants in HDCT-related genes were identified in 47% of cases, predominantly in genes associated with EDS and MS. A complete genotype-phenotype concordance was established in 37%, emphasizing the importance of assessing JH in patients presenting with unexplained bleeding.

Conclusion: The results underscore the need for systematic assessment of JH in patients with bleeding and normal haemostatic tests, as well as for bleeding evaluation in those showing HDCT signs. WES proved valuable in identifying genetic contributors to these complex phenotypes, supporting a multidisciplinary approach to achieve accurate diagnosis and improved patient care.

Nagao A, Chikasawa Y, Sawada A, et al. Haemophilia and cardiovascular disease in Japan: Lowincidence rates from ADVANCE Japan baseline data.Haemophilia. 2023;29:1519–1528. https://doi.org/10.1111/hae.14876

In the above article, errors were identified in several numerical values presented in the published tables and figure, due to inaccuracies in the initial data collection process. The corrected versions of Table 1, Table 2, Table 5, and Figure 1 are provided below.

Please note that some numerical values cited in the main text may also differ from those originally published. However, these corrections do not alter the overall interpretation or conclusions of the study.

We apologize for this error.

Introduction: Haemophilia is a chronic bleeding disorder causing joint disease and pain, impacting quality of life (QoL) and function. Despite treatment advances, pain management remains challenging. This study uses bibliometric and content analysis to explore research trends, key themes and gaps.

Aim: To analyse the research landscape on pain in haemophilia by identifying key themes, trends, gaps and assessment tools, with the aim of informing future research directions and contributing to personalised, multidisciplinary pain management strategies in clinical practice… METHOD: A comprehensive bibliometric analysis was conducted using relevant databases, identifying 208 publications related to haemophilia and pain. A content analysis was performed to categorise research based on study types, key variables and assessment tools. Variables were classified into demographic, clinical, pain assessment, joint health, functional, psychosocial and treatment-related categories.

Results: The analysis revealed that pain management, joint health, QoL and rehabilitation strategies are central research themes. Randomised controlled trials focused on interventions such as exercise, kinesiology taping and alternative therapies, while descriptive studies examined pain prevalence, severity and its psychosocial impact. However, research gaps exist in areas such as neuropathic pain, paediatric and elderly populations, and digital health applications. The findings also emphasise the increasing use of patient-reported outcome measures in evaluating pain and treatment efficacy.

Conclusion: These insights highlight the multifaceted nature of pain in haemophilia and underscore the need for multidisciplinary management strategies. Future research should focus on personalised approaches, innovative interventions and integrating digital health solutions to improve patient outcomes.

Aim: To compare the frequency and timing of femoral- versus tibial-sided radiographic radiolucencies after posterior-stabilized TKA in people with haemophilia (PwH) versus non-haemophilic controls.

Methods: A retrospective analysis was conducted of all primary posterior-stabilised total knee arthroplasties (TKA) performed in the centre between December 2003 and December 2018. Patients in Group 1 (n = 53) were age- and implant-matched to controls without haemophilia in Group 2 (n = 58). Radiographs were obtained at 3, 6 and annually to 5 years. Loosening was defined as progressive radiolucent lines >1 mm and/or migration/osteolysis, adjudicated by two blinded surgeons.

Results: Mean age at surgery was 35.7 ± 9.2 years in Group 1 and 60.5 ± 11.8 years in Group 2 (p < 0.001). Femoral component loosening occurred in 22.6% of PwH versus 5.2% of controls (p = 0.011), whereas tibial loosening rates were 11.3% versus 8.6% (p = 0.755). Mean time to femoral loosening was 27.6 ± 16.8 months (Group 1) versus 31.3 ± 13.9 months (Group 2; p = 0.788), and to tibial loosening was 20.4 ± 18.2 months versus 9.6 ± 9.5 months (p = 0.134). Cox regression showed no significant hazard difference for femoral loosening (HR 0.99, 95% CI 0.93-1.05; p = 0.693). Post hoc power for detecting femoral loosening differences was ∼80%.

Conclusions: PwH undergoing TKA showed a higher frequency of femoral-sided radiographic radiolucencies. These findings should be interpreted as potential predisposition to early loosening. Tibial findings were comparable between groups.

Introduction: Haemophilia B is an X-linked recessive bleeding disorder caused by coagulation factor IX (FIX) deficiency. Treatment involves intravenous replacement of FIX. Recently, extended half-life (EHL) FIX products have been introduced alongside standard half-life (SHL) products to optimize therapy.

Aim: This study evaluated bleeding rates, joint health, factor consumption, dosage, and health-related quality of life (HRQoL) in patients switching from SHL- to EHL-FIX products, as well as in those exclusively treated with EHL-FIX.

Methods: Retrospective data from the medical records of 37 children with haemophilia B treated between 2010 and 2023 at two German Haemophilia Care Centres were analysed. HRQoL was assessed cross-sectionally using haemophilia-specific and generic questionnaires.

Results: Twenty-seven patients (median age: 12 years, range 2-19 years) switched from SHL- to EHL-FIX, while 10 received EHL-FIX from the start of prophylaxis. The mean annual bleeding rate (ABR) improved from 6.01 ± 7.01 (SHL) to 2.85 ± 3.42 (EHL). Factor consumption (159,577.8 ± 99,817.9 IU/year), dosage (118.9 ± 50.3 IU/kg/week) and infusion frequency (145 ± 35.6 infusions/year) decreased after switching (100,247.7 ± 46,268.6 IU/year; 56.4 ± 23.7 IU/kg/week; 55.1 ± 9.8 infusions/year). HRQoL improved in both self-reports and parent reports. No severe adverse events occurred.

Conclusion: Switching from SHL-FIX to EHL-FIX in children with haemophilia B is safe and may improve outcomes by reducing bleeding rates, infusion frequency, and factor consumption while enhancing joint health and HRQoL.