Inherited Rare Factor Deficiencies: Single-centre Experience

Objective: Bleeding is one of the most important problems in humans. Absence, deficiency or dysfunctions of protein factors in the coagulation system can cause prolonged bleeding, morbidity or mortality. Although factor VIII, factor IX and von Willebrand factor deficiencies are the most common, deficiencies in all other factors exist, called rare factor deficiencies. This study aimed to present the clinical presentations, laboratory findings, treatments, and surgical interventions in patients with rare factor deficiencies other than factor VII followed up in our clinic. Materials and Methods: Patients who were diagnosed with rare factor deficiency other than factor VII in the department of pediatric hematology and oncology between July 1997 and June 2020 were included in this study. Patients' demographic characteristics, clinical presentations, family history, prothrombin time, activated partial thromboplastin time and factor levels, treatments and surgical interventions were recorded retrospectively from patients' files. Results: Nineteen patients were included in the study, of which 7 (37%) had factor X deficiency, 5 (25%) had factor XI, 3 (16%) had factor V+VIII, 2 (10%) had factor V and 1 (5%) had factor I and XIII deficiencies. Parents of 12 patients had consanguinity marriages. All patients with factor X deficiency had bleeding episodes, and three of them were under prophylaxis with prothrombin complex concentrate. Other patients were under on-demand treatment. In total, 19 surgical interventions (11 minor; 8 major) were performed. Conclusion: Rare bleeding disorders are very uncommon and heterogeneous, with variable associations between coagulation factor activity and bleeding phenotype. A multidisciplinary and expertise team (haematologists, nurses, gynaecologists, obstetricians, orthopaedist, etc.) is necessary for the treatment and regular followup of patients with rare bleeding disorders.