Clinical Spectrum, Subtype Distribution, and Treatment Outcomes in von Willebrand Disease: A Prospective Study from a Hemophilia Treatment Center in Pakistan

巴基斯坦血友病治疗中心的前瞻性研究:血管性血友病的临床表现、亚型分布和治疗结果

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Abstract

Introductionvon Willebrand Disease (VWD) is the most common inherited bleeding disorder, exhibiting diverse clinical manifestations depending on subtype and severity. This study aimed to assess the distribution of VWD subtypes, evaluate the correlation between Bleeding Assessment Tool (BAT) scores and clinical symptoms, and examine treatment outcomes and quality-of-life (QoL) improvements at a Hemophilia Treatment Center (HTC).MethodsWe conducted a prospective observational study of 147 VWD patients. Data were collected using the World Bleeding Disorders Registry (WBDR) on demographics, subtype classification, BAT scores, bleeding symptoms, and clinical outcomes. Annual bleeding rate (ABR) was calculated to quantify bleeding frequency. Treatment response and QoL changes were evaluated after twelve months. Statistical analysis included ANOVA and Kruskal-Wallis tests to assess differences in bleeding severity and disease burden.ResultsAmong 147 VWD patients (mean age 14.5 ± 10.9 years), type 3 was the most common (80.9%), followed by type 2 (12.2%) and type 1 (6.8%). Gum bleeding (80.7%) was the leading symptom, followed by heavy menstrual bleeding (63%) and hemarthrosis (35%). BAT scores (>12) occurred in 93.3% of type 3 and 16.7% of type 2 patients, with type 3 showing the highest ABR (>30/year in 91.6%). Joint scores were significantly higher in type 3 versus type 1 (p = .002) and type 2 (p = .004), and mean hemoglobin was lowest in type 3 (6.2 g/dL, p = .001). Treatment varied on the types. After management, ABR decreased across all subtypes; in type 3, >30 bleeds/year reduced from 91.6% to 57.1%, with improved joint scores, hemoglobin levels, and psychological well-being.ConclusionType 3 von Willebrand disease is associated with the highest clinical burden, characterized by frequent and severe bleeding requiring intensive management. In this cohort, individualized treatment was associated with reduced bleeding frequency, improved hemoglobin levels, and better patient-reported quality of life. These findings underscore the importance of comprehensive care approaches, including attention to psychological well-being, particularly in patients with severe disease.

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