Prevalence of hereditary thrombophilia among Egyptian children with portal vein thrombosis

Background Portal vein thrombosis (PVT) is an important cause of portal hypertension in the pediatric age group with high morbidity rates due to its main complication—the upper gastrointestinal varices and hypersplenism. No identifiable cause can be found in more than half of the cases of extrahepatic portal vein obstruction (EHPVO). Thrombophilia is incriminated in 35% of cases of EHPVO in children. Objective This study aimed to determine the prevalence of hereditary thrombophilia in Egyptian children with PVT. Methods This cross-sectional study included all children with PVT attending Ain Shams University Children’s Hospital Hepatology Unit over 1 year. All patients had hereditary thrombophilia done including (protein C, protein S, antithrombin III activities; MTHFR (C677T), factor V Leiden, and prothrombin gene, G20210A mutations). In addition to assess the clinical impact of hereditary thrombophilia on the pattern and severity of PVT, the cohort was categorized according to thrombophilia screening into two groups: patients with hereditary thrombophilia (44/70) and those without hereditary thrombophilia (26/70). This categorization enabled comparative analysis of radiological and endoscopic findings between the two groups. Results Our cohort included 70 children with PVT (median age 3 years; the male-to-female ratio among the studied children was 1.9:1, with males representing 65.7%. A positive family history of venous thrombosis was identified in one patient (1.4%). Hematemesis was the most frequent presenting symptom (64.3%), followed by abdominal enlargement (35.7%). Thrombophilia disorders were detected in 62.9% of cases, predominantly protein C deficiency (42.9%) and homozygous MTHFR mutations (22.9%). Patients with thrombophilia showed significantly greater portal vein attenuation with cavernous transformation (84.4% versus 65.4%, p = 0.039). Conclusion Hereditary thrombophilia may be a contributing factor of PVT. Therefore, hereditary thrombophilia screening is recommended in this population.