Haemophilia最新文献

Aim: This study aims to evaluate the natural course and resolution of flexion contracture following total knee arthroplasty (TKA) in individuals with haemophilic arthropathy.

Methods: Between April 2010 and April 2014, 65 patients with haemophilic arthropathy and preoperative flexion contracture underwent TKA at a single institution. Patients were followed for 56 months (range 48-72 months). Range of motion, Knee Society Score, Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), and SF-36 scores were assessed at 3, 6, 12, 24, and 56 months. An intensive physiotherapy protocol included supervised sessions twice weekly for 3 months.

Results: Mean age was 34.2 ± 8.3 years. Preoperative flexion contracture of 27.6 ± 11.2° improved to 14.3 ± 6.2° postoperatively, then to 6.9 ± 3.3° at 3 months, 4.4 ± 2.2° at 6 months, 2.2 ± 3.2° at 12 months, and 2.1 ± 3.1° at 56 months (p < 0.001). Patients with clinically significant flexion contracture > 5° decreased from 53 postoperatively (81.5%) to 10 at 3 months (15.4%), 6 at 12 months (9.2%), and 5 at 56 months (7.7%). Multivariate analysis identified immediate postoperative flexion contracture > 15° (OR 8.3, p = 0.002) and age > 40 years (OR 4.1, p = 0.019) as independent predictors of residual contracture > 5° at final follow-up. Final flexion contracture ≤ 5° was achieved in 90.8% at 12 months and maintained in 92.3% at 56 months.

Conclusions: Residual flexion contracture after TKA in haemophilic arthropathy demonstrates significant spontaneous improvement, with 92% correction by 12 months, sustained through 56-month follow-up. This pattern contrasts with commonly reported outcomes in osteoarthritic populations. In haemophilic patients with excellent rehabilitation compliance, surgeons can be confident that mild residual contracture is likely to improve over time.

Background: Haemophilia is a chronic disorder and dental health forms an integral part of overall health in individuals with haemophilia.

Objective: The present study aims to analyse electronic medical records of individuals with haemophilia who presented to the emergency department with acute oral bleeding, with the goal of improving, understanding and management of this underreported presentation.

Methods: This observational study involved the analysis of electronic patient records of individuals with haemophilia over a 1-year period who reported to the emergency department solely due to oral or dental cause. Medical and dental records of patients with haemophilia are centrally documented by the Haemophilia Society of our treatment centre.

Results: A total of two cases reported to the emergency solely because of oral bleeding. The first case is of a 39-year-old male with severe haemophilia A who reported of copious oral bleed following the use of a toothpick that was used to remove the debris between the teeth. The second case is of a 23-year-old male with severe haemophilia B who reported to the emergency due to 'no toothbrushing' habit over 10 years owing to which he had heavy deposits of calculus in his lower front teeth and consequent gingival haemorrhage.

Conclusion: Primary prevention in the oral cavity refers to the 'find it early and fix it early' approach to avoid extensive and invasive dental treatment procedures. It is time to recognize dental neglect and avoid such demanding clinical situations that ultimately warrant an emergency visit, which complicates the management protocols.

Trial registration: REF/2024/01/077096.

Introduction: Assessment of health-related quality of life (HRQoL) is relatively new in von Willebrand disease (VWD). So far, generic questionnaires have mainly been used for HRQoL assessment in VWD.

Aims: To assess generic and disease-specific HRQoL in adult VWD patients and compare HRQoL with the general German population.

Methods: Patients presenting with a personal or family history of bleeding and von Willebrand factor (VWF)-specific laboratory parameters were enrolled in the WIL-QoL study. HRQoL was assessed with generic (SF-36) and disease-specific (VWD-QoL) questionnaires. Descriptive and inferential statistical procedures were applied based on a significance level at α ≤ 5%.

Results: In the retrospective, multicentre WIL-QoL study, HRQoL and clinical data in 120 adults with VWD (one adolescent completed the adult questionnaire) from 10 centres in Germany were collected. Compared to the corresponding age group in the general German population, female VWD patients had significantly worse HRQoL in all SF-36 domains and male patients only in the 'physical functioning' domain. In the VWD-QoL, highest impairments were seen in all VWD patients in the domains 'other physicians', 'treatment' and 'sport & leisure'. VWD patients with a more significant disease burden, such as a bleeding score ≥ 9 (p < 0.0001), long-term prophylaxis (p = 0.003), and VWD-type 3 (p = 0.022), reported significantly worse HRQoL. No HRQoL differences were seen between male and female VWD patients.

Conclusion: Female VWD patients showed significant impairments in their HRQoL compared to the age group-related general population. Compared to SF-36, the VWD-QoL identified stronger significant HRQoL differences in most VWD subgroups, confirming the impact of bleeds.

Introduction: The expansion of haemophilia treatment to include non-factor prophylaxis provides new options with various benefits, risks, administration modes, and device types, necessitating trade-offs in decision-making.

Aim: This study evaluated prophylactic treatment preferences of people with haemophilia and their caregivers, assessing their willingness to make trade-offs among treatment attributes.

Methods: A web-based survey containing a discrete-choice experiment (DCE) was completed by adults (≥ 18 years old) and caregivers of children (aged 8-17 years) with haemophilia in the United States and United Kingdom. Participants were asked to complete 10 choice tasks, choosing their preferred prophylaxis from two hypothetical profiles defined by seven attributes. The primary analysis employed a mixed logit model, and subgroup analyses explored preference heterogeneity.

Results: Participants were 194 adults with haemophilia (US: 150; UK: 44) and 169 caregivers (US: 150; UK: 19). Avoiding daily treatment administration had the highest attribute importance among both adults and caregivers, followed by changes in annual bleeds. Participants were willing to accept an increased risk of serious side effects or developing inhibitors, or reduced efficacy in preventing annual bleeds, to switch from intravenous to subcutaneous administration. Refrigeration requirements and the need for a second treatment for breakthrough bleeds had lower importance.

Conclusions: Participants highly value avoiding daily administration and reducing bleeds, and they are willing to accept increased risks or reduced efficacy to have subcutaneous rather than intravenous administration. As new treatments become available, understanding these preferences can facilitate shared decision-making in treatment selection and enhance patient-centred drug development and patient communication.

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.