Prevalence of factor V Leiden mutation and other hereditary thrombophilic factors in Egyptian children with portal vein thrombosis: results of a single-center case-control study

Abstract

No identifiable cause can be found in more than half of the cases of portal vein thrombosis (PVT). Our aim was to assess the prevalence of factor V Leiden mutation and other thrombophilic factors as risk factors in the development of PVT in the pediatric age group. From March 2001 to January 2002, 40 children with PVT were enrolled in the study, in addition to 20 age-matched and sex-matched controls. Protein C, protein S, antithrombin III, and activated protein C resistance (APCR) were assayed. Molecular study of factor II and factor V mutations was carried out. Of the patients, 25 had detectable hereditary thrombophilia (62.5%), 12 had factor V Leiden mutation (30%), 11 had protein C deficiency (27.5%), 6 had factor II mutation (15%), 1 had antithrombin III deficiency (2.5%), and none had protein S deficiency. Five children had concurrence of more than one defect. Factor V Leiden mutation is the most common hereditary thrombophilia associated with PVT and the relative risk of factor V Leiden mutation, as a cause of PVT, was six times more than in controls (odds ratio=6). Concurrence of more than one hereditary thrombophilic factor was seen in 12.5% of our patients. Circumstantial risk factors (neonatal sepsis, umbilical sepsis, umbilical catheterization) were not more significantly prevalent among patients with hereditary thrombophilia than among those with no detectable abnormalities in anticoagulation.

Portomesenteric Venous Thrombosis in Previously Healthy Adolescents Presenting With Subacute Abdominal Pain

“…We identified 4 patients (3 female, 1 male) with a median age of 15 years (range = [14][15][16][17]. Clinical attributes are summarized in Table 1.…”

“…[11][12][13][14] Substantial portal vein involvement may drive bleeding, as children with portal vein thrombosis often present with hematemesis and/or melena from portal hypertension. 15,16 Data on thrombophilia in pediatric PMVT, specifically among adolescents, is limited by diagnostic rarity and lack of prospective studies utilizing standardized laboratory algorithms in patients with no medical risk factors. Compared to children with lower extremity thrombosis, children with abdominal thrombosis are more likely to have inherited or acquired thrombophilias.…”

Acquired and Heritable Thrombophilia in Indian Patients With Pediatric Deep Venous Thrombosis (DVT)

“…17 Similarly, a study from Egypt showed 62.5% of the patients with PVT were positive for thrombophilia of which FVL was the commonest, that is 30%. 18 A study of 31 patients with extra hepatic portal venous thrombosis from Italy showed an overall frequency of thrombophilic abnormalities in 32% of the patients. 19 Of the 39 patients with cerebral venous thrombosis, 8 (27%) were positive for thrombophilia which is well within the reported range, that is, 20% to 50% by Mackay and Monagle.…”

Multiorgan involvement in a complicated case of deep vein thrombosis

“…The underlying conditions for occlusive diseases of hepatic, splenic or portal venous system could be an inherited disorder resulting in hypercoagulable state [2][3][4][5] like deficiency of anti-trypsin III, protein C or S, mutation in factor V Leiden or prothrombin genes ( Table 2). Acquired conditions include myeloproliferative disorders, paroxysmal nocturnal hematuria, anti-phospholipid syndrome, certain malignancies, pregnancy and administration of oral contraceptives.…”