(20) Bleeding Profiles, Iron Deficiency, and Quality of Life in Two Cohorts of Adolescents and Young Adults with Type 1 Von Willebrand Disease and Joint Hypermobility/Ehlers-Danlos Syndrome

Background: Patients with Type 1 Von Willebrand Disease (VWD) experience heavy menstrual bleeding (HMB) and other bleeding symptoms that negatively impact their quality of life. Individuals with Generalized Joint Hypermobility (GJH) and hypermobile Ehlers-Danlos Syndrome (hEDS) also experience HMB and non-menstrual bleeding, likely due to abnormalities of collagen production. Limited research exists regarding the sequelae of HMB among these populations, including iron deficiency, and impact on school attendance and behavioral health. We aim to describe HMB, rates of iron deficiency, need for intravenous iron, and impact on school attendance and mood in adolescents and young adults with Type 1 VWD and GJH/hEDS.

Methods: We performed an IRB-approved, retrospective chart review of patients aged 10-25, presenting with HMB to a combined gynecology/hematology clinic at a tertiary children’s hospital from 2019-2024. Cohort 1 included patients with Type 1 VWD. Cohort 2 included patients with GJH (Beighton score ≥ 4) or hEDS (confirmed by a geneticist). Extracted data included baseline demographics, bleeding assessment scores, baseline hemoglobin and ferritin levels, presence of depression or anxiety, and treatments prescribed. Descriptive data are summarized using mean and standard deviation, median and ranges.

Results: Cohort 1 (VWD) included 111 patients; Cohort 2 (GJH, hEDS) included 26 patients. Table 1 reports baseline demographics in both cohorts. Patients in both cohorts had high scores on baseline Bleeding Assessment Tool (BAT) and pictorial blood loss assessment chart (PBAC) (Table 2). Anxiety and depression were reported by 51% of individuals with VWD and 65% GJH/hEDS patients. Intravenous iron was needed for 54% VWD and 65% GJH/hEDS. Median total lines of treatment were 2 (VWD) and 3 (hEDS). Among patients who achieved bleeding improvement, defined by PBAC < 100, the LNG-IUD (alone or with supplemental therapy) was successful for 62% GJH/hEDS and 33% VWD.

Conclusions: Patients with GJH/hEDS and Type 1 VWD demonstrate similar bleeding profiles. These patients attempt several lines of therapy to control HMB. Patients with GHJ/hEDS demonstrate a trend towards higher rates of depression and anxiety and a greater need for intravenous iron. Our results suggest greater awareness and treatment guidelines are needed for patients with GJH/hEDS. Future analyses will compare the two cohorts and will assess the most effective treatment modalities.