BACKGROUND Von Willebrand disease (VWD) is the most common inherited bleeding disorder, yet its diagnosis and management remain heterogeneous across Europe due to variable access to diagnosis and care. AIM To characterize diagnostic and treatment practices for VWD across European hemophilia centers. METHODS The European Association for Haemophilia and Allied Disorders (EAHAD) VWD Working Group conducted a cross-sectional online survey among affiliated centers to evaluate center characteristics, use of bleeding assessment tools (BATs), availability of laboratory assays, genetic testing practices, diagnostic algorithms, and access to care and monitoring of treatments. RESULTS Sixty-two centers (27 countries) participated, being mostly comprehensive hemophilia care centers (77%). BATs were used by 85% of centers. Variability of VWF levels (57%) and limited access to genetic testing (29%) were the most frequently reported diagnostic challenges. VWF:Ag and FVIII:C assays were widely available (98%), whereas multimer analysis (39%), VWF:FVIIIB (31%), and VWFpp testing (13%) were less accessible. Genetic testing was performed routinely or selectively by 89%, most commonly using targeted next-generation sequencing panels (65%). A VWF activity-to-antigen ratio threshold of 0.7 was used by 65% of centers to distinguish type 1 from type 2 VWD. While plasma-derived VWF/FVIII concentrates were universally available, access to recombinant VWF (rVWF) was limited, with approximately one-third of centers reporting no access. Prophylaxis was used predominantly for type 3 (78%) and cases with severe bleeding phenotypes regardless of subtype (63%). CONCLUSIONS Disparities in VWD diagnosis and care persist across Europe, highlighting the need for harmonized pathways and equitable access to specialized testing and therapies.
INTRODUCTION Synovium plays a central role in the development of haemophilic arthropathy (HA). Minimally invasive treatments for haemophilic synovitis are better options than surgery and radiosynoviorthesis (RSO) is considered the treatment of choice. OBJECTIVE To evaluate the main factors that influenced the results of RSO in HA. METHODS In this cohort of patients with HA, we retrospectively analysed the effects of RSO 6 months after the procedure in 1136 joints of 572 patients with HA. The variables evaluated were age, diagnosis of bleeding disorder, inhibitor, prophylaxis, joint, pre-RSO synovial volume, type and dose of radiopharmaceutical (RP), Pettersson and MRI scores, number of hemarthroses and pain. RESULTS The median age of patients was 15 years (range: 2-61 years), and 48.9% of joints belonged to children under 14 years of age. The majority (69.3%) of joints presented changes above 5 points in the Pettersson score for haemophilic arthropathy. The variables that reached statistical significance were the type of joint, RP and the diagnosis of haemophilia. The median (Interquartile Range) number of hemarthroses at 6 months pre-RSO was 10 (4-18), decreasing to 1 (0-3) 6 months post-RSO. A combined improvement in hemarthrosis and pain was observed in 91.6% of treated joints. RP Yttrium-90 Citrate was the most effective when compared to Yttrium-90 Hydroxyapatite and Samarium-153 Hydroxyapatite; elbows and ankles joint showed superior outcomes compared to knees joints. CONCLUSION This study confirms the results of previous publications, which demonstrated the efficacy of RSO in reducing the number of hemarthroses related to haemophilic synovitis.
INTRODUCTION Health-state utilities (HSUs) summarise health-related quality of life for economic evaluation. Estimates in haemophilia vary by population, treatment context, instrument, value set, and recruitment setting. AIM To synthesise HSU estimates from multi-attribute utility instruments in adults with haemophilia and evaluate the interpretability of a single pooled value. METHODS Six databases were searched from inception to 30 June 2026. The primary meta-analysis included one patient-reported EQ-5D or SF-6D mean, with usable SD, from each independent adult cohort. A REML random-effects model used Hartung-Knapp confidence intervals. Prediction intervals, leave-one-out analysis, alternative estimators, eligibility and overlap scenarios, and Egger regression assessed robustness. RESULTS The review included 35 publications. Sixteen independent adult effects (n = 3,487) entered the primary analysis. The pooled HSU was 0.675 (95% CI 0.619-0.732). Heterogeneity was substantial (I2 = 95.4%; τ2 = 0.0103), with a 95% prediction interval of 0.450-0.900. Leave-one-out estimates ranged from 0.668 to 0.690. Egger's intercept was -6.24 (p = 0.003), indicating asymmetry rather than proving publication bias. Data were insufficient for robust subgroup meta-analysis. CONCLUSION Adults with haemophilia experience a substantial HRQoL burden; however, variability in pooled HSU estimates means that this value should be interpreted as a broad reference point rather than a precise estimate for every setting. Future research would benefit from clearer adult eligibility criteria, more consistent reporting of variance, and broader geographic and population representation, including women and girls with haemophilia and symptomatic carriers. CILINICAL TRIAL REGISTRATION INFORMATION This systematic review was prospectively registered in PROSPERO (CRD420251234536). Clinical trial registration is not applicable.
Abstract Introduction Congenital type 1 plasminogen deficiency (PLGD1) is an ultra‐rare disorder characterized by the formation of fibrin‐rich pseudomembranes on mucosal surfaces across multiple organ systems. In affected females, ligneous lesions may involve the genital tract. Aim We aimed to characterize the clinical manifestations and therapeutic approaches associated with genital involvement in females with PLGD1. Methods A structured literature review was performed to identify previously reported females with PLGD1 and genital lesions. In addition, PLGD1 patients followed at Padua University Hospital were included. Results A total of 57 females with genital manifestations consistent with PLGD1 were identified, including 4 cases from our institution, 8 patients enrolled in a phase 2–3 clinical trial, and 9 cases described before recognition of the association with plasminogen deficiency. Reported plasminogen activity levels ranged from < 2% to 50%. Pseudomembranous lesions involved the vagina, cervix, endometrium, ovaries, and fallopian tubes. Genital involvement represented the sole clinical manifestation in 13 of 57 patients (22.8%). The most common symptoms included dysmenorrhea, vaginal discharge, post‐coital bleeding, and infertility (18/38 cases, 47.4%). Surgical excision was associated with a high rate of recurrence. Data on topical and systemic treatments for genital involvement were limited and largely empirical. The most effective therapeutic approach was replacement therapy with human Glu‐plasminogen concentrate and fresh frozen plasma. Conclusions Genital tract involvement in PLGD1 is not uncommon and may represent the sole manifestation of the disease, with potential implications for fertility. Glu‐plasminogen replacement therapy has shown promising results, although its availability remains limited worldwide.
ABSTRACT Introduction Shared decision‐making regarding treatment choice in haemophilia care has become increasingly more complex and essential due to the availability of several innovative therapeutics that are characterized by their own advantages and limitations, which need to be tailored to individual patient needs. Aim We aim to complement the World Federation of Haemophilia (WFH) Shared Decision‐Making Tool by providing an update on the key differentiators that need to be considered by clinicians when discussing treatment options with their patients. Methods Based on the experience of three physicians from haemophilia treatment centres in Belgium and the USA with expertise in both adult and paediatric haemophilia, we have written a narrative framework for shared decision‐making in haemophilia. Results We identified fifteen differentiators including treatment class, burden, efficacy, safety, monitoring needs, access, and broader patient‐centred outcomes beyond haemostasis. Conclusion Using these updated treatment differentiators in conjunction with the WFH tool, physicians are better equipped to engage in shared decision‐making discussions with their patients with the ultimate goal of attaining more personalised and equitable care. Key Points The increasing number of treatment options for haemophilia requires an update of the key treatment differentiators for shared decision‐making. These differentiators complement the existing WFH Shared Decision‐Making Tool and help physicians engage in more comprehensive shared decision‐making discussions.
