Haemophilia最新文献

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.

Introduction: Haemophilia is a rare X-linked bleeding disorder caused by deficiencies in coagulation factors, leading to recurrent bleeding episodes, particularly in joints and muscles. Haemophilia A accounts for 80%-85% of cases, while Haemophilia B represents 15%-20%. Despite advances in treatment, challenges such as inhibitor development, treatment variability, data scarcity, algorithmic bias, and disparities in technology access persist. Artificial intelligence (AI) has the potential to improve diagnostic accuracy, prognostication, and management, advancing personalised treatment strategies.

Aim: This review examines AI applications in haemophilia care, assessing their impact on diagnosis, predictive modelling, digital health solutions, and treatment optimisation while addressing limitations and ethical concerns.

Methods: A narrative review of 40 articles was conducted, focusing on AI-driven diagnostic tools, predictive modelling, digital health technologies, and treatment optimisation. Additionally, barriers to AI integration, including algorithmic bias, cost, and accessibility, were evaluated.

Results: AI enhances diagnostic accuracy, predicts disease severity, assesses inhibitor risks, and optimises recombinant therapies. Machine learning improves precision in robot-assisted surgeries, while AI-powered digital tools, including chatbots and wearables, support self-management and real-time monitoring. Generative AI facilitates patient education and predictive modelling, aiding clinical decision-making. AI-driven individualised prophylaxis strategies using factor mimetics and rebalancing agents are emerging.

Conclusion: AI represents a paradigm shift toward precision medicine in haemophilia care. However, ethical concerns, data scarcity, and financial barriers limit its full potential. Future research should focus on mitigating biases, improving data availability, and refining AI-driven personalised treatment strategies to optimise patient outcomes.

Introduction: Von Willebrand disease (VWD) is one of the most common hereditary disorders of primary haemostasis. Females with VWD often report heavy menstrual bleeding (HMB) that can significantly impact health-related quality of life (HRQoL).

Aim: To analyse clinical and HRQoL data of females with VWD from the WIL-QoL study.

Methods: Clinical and obstetric-gynaecological data were collected by a physician-led clinical questionnaire and HRQoL data via a patient-reported VWD-specific questionnaire (VWD-QoL).

Results: Data on menstruation were available from 113 females with VWD (15 post-menarche girls [mean age 14.8 ± 1.7 years] and 98 women [mean age 37.8 ± 12.6 years]). HMB (defined as increased [simultaneous use/replacement of sanitary pads/tampons every 1-2 h] and/or prolonged [>7 days] menstrual bleeding) was reported in 85% and 77% of girls and women, respectively. Of 72 women who became pregnant, 31 experienced bleeding during pregnancy (3 women had missing data) and 32 women reported at least one miscarriage (44%). Overall, 12/96 women (13%) underwent hysterectomy due to bleeding; these women had more moderate-to-severe VWD (p < .006) and a higher bleeding score (p < .013) than women who did not undergo hysterectomy. Women still experiencing menstruation (n = 71) who 'often/all the time' self-reported HMB (HMB-PRO), pain during menstruation and impairments in everyday-life activities due to menstruation had significantly worse HRQoL compared with those who 'never/rarely' reported these impacts (p = .004, p < .001 and p < .001, respectively). Women who underwent hysterectomy reported significantly worse HRQoL than those who did not (p < .007).

Conclusion: Female VWD patients experienced substantial disease and HRQoL burden that is further exacerbated by HMB.

Introduction: Hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorder (HSD) are associated with symptoms in many organ, but those related to haemostasis are not fully characterized.

Aims: To determine the frequency of clinically significant excessive bleeding in this population as measured by the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (ISTH-BAT) and its associated health-related quality of life (HRQoL) concerns.

Methods: Thirty-five participants were enrolled from the hEDS GENE study. We use a mixed methodology approach to explore bleeding and other symptoms and their effect on participants life and health. This included self-administered quantitative questionnaires and semi-structured interviews, including the ISTH-BAT. We assessed severity of distress related to bleeding using a novel quantitative assessment score based on our participant interview responses.

Results: Nearly one third of participants reported clinically significant bleeding (ISTH-BAT mean = 4.97) yet less than 10% of those received evaluation by haematology for bleeding. Heavy menstrual bleeding (HMB) was the most common bleeding symptom. Poor HRQoL related to multiple bleeding domains was reported. More than one third of participants reported significant distress from bleeding symptoms with a mean ISTH-BAT score of 8.25.

Conclusion: Bleeding is a significant clinical concern and cause of distress in people with hypermobility correlating with the severity of bleeding, reflected by a high bleeding score. This unique assessment tool needs validation in a larger patient cohort. Increased awareness and further evaluation of this condition is needed to adequately serve this patient population.

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.

Aim: This study aimed to evaluate the clinical and radiographic outcomes of total knee arthroplasty (TKA) in patients with haemophilia A and severely stiff knees (preoperative flexion range of motion ≤40°) with a focus on functional recovery, implant stability, and complication rates.

Methods: Twenty-four patients (31 knees) with severe haemophilia A and severely stiff knees (mean age: 38.4 years; range: 24-61 years) underwent TKA using the medial parapatellar approach and Posterior Stabilised prostheses. Knee ROM and flexion contracture were assessed preoperatively and at the latest follow-up. Radiographic analysis evaluated component stability, joint alignment, deformity correction, and postoperative complications. Long-term implant survivorship was assessed using Kaplan-Meier analysis.

Results: Over an average follow-up of 7.2 years (range: 3.2-14.8 years), no cases of prosthetic loosening, instability, or axial deformity were found except in two knees. Complications occurred in three patients (9.7%): one late periprosthetic joint infection requiring revision, one superficial wound infection resolved conservatively, and one aseptic loosening requiring revision. Knee flexion improved from 42.8° to 81.3° and flexion contracture from 16.2° to 5.8° (both p < 0.001). Ten-year implant survivorship was 93.4% (95% CI: 86.1-97.2%).

Conclusion: TKA appears to be a safe and effective intervention for haemophilia patients with severely stiff knees, offering substantial functional recovery, enhanced joint mobility, and a low complication profile. Earlier intervention in patients with flexion >30° may optimise outcomes.

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.