Rare inherited coagulation disorders in Alexandria University Children’s Hospital

Abstract

Introduction Rare coagulation disorders (RCD) encompass a diverse range of conditions that differ in terms of frequency and clinical manifestations. Aim To describe clinical and laboratory characteristics of patients with RCD attending Alexandria University Children’s Hospital complaining of bleeding symptoms. Methods This descriptive study enrolled pediatric patients with RCD in Alexandria University Children’s Hospital from December 2021 to June 2022. Results RCD were diagnosed in 64 patients aged 1 day–14 years. Factor ⅤⅠI deficiency was most common, with a prevalence of 29.6%, followed by fibrinogen disorders (23.4%), Factor XⅠ (15.6%), Factor X deficiency (12.5%), Factor V deficiency (10.9%), and Factor XIII deficiency (6.2%). Manifestations ranged from mild to serious presentation. The most common age at presentation was the first year of life. Intracranial hemorrhage occurred in 10/64 patients; it was the initial mode of presentation in one of them. Global developmental delay as a complication occurred in one case. Buddi Chiari syndrome occurred in three cases due to fibrinogen deficiency. The most common rare coagulation disorder was Factor VII deficiency, followed by fibrinogen deficiency due to the high prevalence of consanguineous marriage. The presentation was heterogeneous and life-threatening, with challenges in treatment, including initiation of prophylaxis very early in life. Conclusion There was a significant correlation between factor activity in fibrinogen disorders, Factor X deficiency, and severity of bleeding. There was no correlation between Factor V, Factor VII, Factor XI, Factor XIII activity levels and bleeding severity, so we recommend studying genotype-phenotype correlation.