Women with congenital factor <scp>VII</scp> deficiency: clinical phenotype and treatment options from two international studies

Abstract

Introduction A paucity of data exists on the incidence, diagnosis and treatment of bleeding in women with inherited factor VII ( FVII ) deficiency. Aim Here we report results of a comprehensive analysis from two international registries of patients with inherited FVII deficiency, depicting the clinical picture of this disorder in women and describing any gender‐related differences. Methods A comprehensive analysis of two fully compatible, international registries of patients with inherited FVII deficiency (International Registry of Factor VII deficiency, IRF 7; Seven Treatment Evaluation Registry, STER ) was performed. Results In our cohort ( N = 449; 215 male, 234 female), the higher prevalence of mucocutaneous bleeds in females strongly predicted ensuing gynaecological bleeding (hazard ratio = 12.8, 95% CI 1.68–97.6, P = 0.014). Menorrhagia was the most prevalent type of bleeding (46.4% of patients), and was the presentation symptom in 12% of cases. Replacement therapies administered were also analysed. For surgical procedures ( n = 50), a receiver operator characteristic analysis showed that the minimal first dose of rFVII a to avoid postsurgical bleeding during the first 24 hours was 22 μg kg −1 , and no less than two administrations. Prophylaxis was reported in 25 women with excellent or effective outcomes when performed with a total weekly rFVII a dose of 90 μg kg −1 (divided as three doses). Conclusion Women with FVII deficiency have a bleeding disorder mainly characterized by mucocutaneous bleeds, which predicts an increased risk of ensuing gynaecological bleeding. Systematic replacement therapy or long‐term prophylaxis with rFVII a may reduce the impact of menorrhagia on the reproductive system, iron loss and may avoid unnecessary hysterectomies.