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    Poster Networking

    Hemophilia and Rare Bleeding Disorders

    Poster Networking Session

    PB0220 - Clinical presentation and bleeding severity in women with autosomal inherited bleeding disorders and hemophilia carriers: real-life data from the Spanish Registry

    Sunday, June 25, 2023
    18:30 – 19:30 ET
    Room: Exhibition
    Background: Recently, more awareness is raised about sex-specific problems in patients with inherited bleeding disorders due to menstruation and delivery as haemostatic challenges in women. Additionally, clinical presentation of rare bleeding disorders (RBDs) is heterogeneous and there is a usually poor correlation between factor activity and bleeding phenotype.

    Aims: To describe the clinical presentation, bleeding phenotype of the Spanish women population with RBDs, haemophilia carriers and congenital platelet disorders (CPD), and to validate the previously determined threshold factor activity.

    Methods: A nationwide cross-sectional study was conducted among women over 18 years with a congenital factor deficiency or a proven pathogenic genetic variant or CPD. Patients were recruited from 8 haemophilia treatment centres from June 2020 to December 2022. Demographic, clinical, diagnostic (including bleeding score) and analytical parameters were analysed.

    Results: A total of 90 women were included. Median age at diagnosis 29 years (0-77). The genotype was known in 41 patients (45%). Patient detailed characteristics are provided in Table 1. Reason for referral: alteration of coagulation parameters (n=36; 40%), family history (n=27; 30%), personal bleeding tendency (n=23; 25.5%) and other (n=4; 4.4%). FVII deficiency was the most frequent disease (n=31; 34.4%). The most common symptom was menorrhagia (n=42; 46.7%). Other prevalent symptoms: bleeding after tooth extractions (n=25; 27.8%), cutaneous (n=24; 26.7%) and postpartum haemorrhage (n=8/42 pregnancies (19%) (4 with FXI deficiency). Intracranial haemorrhage occurred only in 2 women with FXIII deficiency (2.2%). Bleeding severity and predicted bleeding grade in RBDs are shown in Table 2.

    Conclusion(s): In women with RBDs, menorrhagia is the most prevalent symptom and sex-specific bleeding represent a haemostatic challenge. Despite of the small number of women per bleeding disorder, Spanish registry reports real-life data and confirmed the heterogeneous bleeding tendency of patients with RBDs and the poor correlation between baseline factor levels and clinical severity.