Clinical Spectrum and Treatment Outcomes of Rare Bleeding Disorders in Female Patients: A Two-Center Experience in North Pakistan

Introduction Rare bleeding disorders (RBDs) result from genetic mutations in clotting factors. These RBDs vary in prevalence and are often underdiagnosed due to mild symptoms. Treatment is challenging due to limited clinical data and primarily involves substituting deficient factors and using adjuvant therapies. Women with RBDs face unique risks, including gynecologic bleeding, hemorrhagic ovarian cysts, and complications during pregnancy. These issues can significantly impact their quality of life and employment. This study was conducted to characterize the patterns of bleeding disorders, clinical manifestations, and treatment outcomes in female patients. Methods In this cross-sectional study, we included patients from the Hemophilia Treatment Center (HTC) and Armed Forces Bone Marrow Transplant Centre (AFBMTC) Rawalpindi between 2011 and 2023, using a convenience sampling technique. Data were extracted from patient files, including medical history, factor activity levels, symptoms, treatments, and medications. Eligible participants had congenital coagulation factor deficiencies, while those with platelet function or acquired coagulation disorders were excluded. Results In our study of 50 patients with RBD, the median age at bleeding presentation was two years; 72% of cases were born of consanguineous marriages, and 57% had a positive family history of bleeding disorders. Factor V deficiency was the most prevalent (28%), and major bleeding episodes occurred in 52% of cases. The predominant clinical presentations included menorrhagia (74%) and epistaxis (58%). Treatment primarily involved antifibrinolytics (98%) and FFP transfusions (96%), with significant associations identified among various risk factors related to bleeding. All patients were counseled regarding local measures for bleeding control. There was a moderate correlation found between factors V and VII with the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (ISTH BAT) score. There is a weak correlation between factors X and XI with the ISTH BAT score. There was no correlation found in factor I, factor XI, factor XII, and combined factors V+VIII deficiency. Conclusion Women with RBDs face a spectrum of bleeding challenges, significantly impacting their quality of life and reproductive health. Early diagnosis and personalized treatment strategies are paramount in mitigating bleeding risks and enhancing patient outcomes.