Rare bleeding disorders in girls and adolescent females with bleeding symptoms

Abstract

Background Females with rare bleeding disorders who suffer from mild bleeding symptoms and extra bleeding symptoms related to menstruation are usually delayed in their diagnosis, necessitating early evaluation for an underlying bleeding diathesis based on clinical suspicion. Objectives We aimed to assess the frequency of rare bleeding disorders among female children and adolescents presenting with bleeding symptoms and to evaluate their health-related quality of life. Patients and methods Sixty females with bleeding symptoms younger than 18 years old were recruited and were subjected to detailed medical assessment and evaluation of different bleeding symptoms using the ISTH-BAT, the menstrual pictogram for assessing menstrual blood loss in pubertal females, and the Arabic version of the pediatric quality of life multidimensional fatigue scale. Laboratory investigations are tailored according to the institutional guidelines. Results The median age of the studied population was 8.25 years and 48.3% had a positive family history of bleeding. The mean age of presentation/diagnosis of Von Willebrand disease and Glanzmann disease were 6.1/8.2 and 5.3/7.6 years, respectively. Forty-five females had inherited bleeding disorders, and 15 had acquired ones. The most common diagnosis was Von Willebrand disease (30%), followed by Glanzmann disease (18.3%). The most common acquired disorder was aplastic anemia (13.3%). There was a higher ISTH-BAT total score in those with inherited disorders than in those with acquired disorders ( P =0.006). Conclusion Adolescent females who present to a tertiary pediatric or gynecology service with bleeding manifestations should be screened for underlying bleeding disorders.