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

Hanaa El-Karaksy, Nehal El-Koofy, Manal El-Hawary, Azza Mostafa, Mona Aziz, Mortada El-Shabrawi, Nabil A. Mohsen, Magd Kotb, Mona El-Raziky, Marwa Abu El-Sonoon, Hassan H Hassan

Research output: Contribution to journalArticle

43 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)712-715
Number of pages4
JournalAnnals of Hematology
Volume83
Issue number11
DOIs
StatePublished - Nov 2004

Fingerprint

Portal Vein
Case-Control Studies
Thrombosis
Mutation
Umbilicus
Prothrombin
Antithrombin III Deficiency
Protein S Deficiency
Protein C Deficiency
Activated Protein C Resistance
Factor V
Antithrombin III
Protein S
Protein C
Catheterization
factor V Leiden
Sepsis
Age Groups
Odds Ratio
Pediatrics

Keywords

  • Egypt
  • Factor II mutation
  • Factor V Leiden
  • Hereditary thrombophilia
  • Portal vien thrombosis
  • Protein C deficiency
  • Prothrombin gene mutation

ASJC Scopus subject areas

  • Hematology

Cite this

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. / El-Karaksy, Hanaa; El-Koofy, Nehal; El-Hawary, Manal; Mostafa, Azza; Aziz, Mona; El-Shabrawi, Mortada; Mohsen, Nabil A.; Kotb, Magd; El-Raziky, Mona; El-Sonoon, Marwa Abu; Hassan, Hassan H.

In: Annals of Hematology, Vol. 83, No. 11, 11.2004, p. 712-715.

Research output: Contribution to journalArticle

El-Karaksy, H, El-Koofy, N, El-Hawary, M, Mostafa, A, Aziz, M, El-Shabrawi, M, Mohsen, NA, Kotb, M, El-Raziky, M, El-Sonoon, MA & Hassan, HH 2004, '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', Annals of Hematology, vol. 83, no. 11, pp. 712-715. https://doi.org/10.1007/s00277-004-0921-4
El-Karaksy, Hanaa ; El-Koofy, Nehal ; El-Hawary, Manal ; Mostafa, Azza ; Aziz, Mona ; El-Shabrawi, Mortada ; Mohsen, Nabil A. ; Kotb, Magd ; El-Raziky, Mona ; El-Sonoon, Marwa Abu ; Hassan, Hassan H. / 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. In: Annals of Hematology. 2004 ; Vol. 83, No. 11. pp. 712-715.
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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.",
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AU - Mostafa, Azza

AU - Aziz, Mona

AU - El-Shabrawi, Mortada

AU - Mohsen, Nabil A.

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AU - El-Raziky, Mona

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N2 - 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.

AB - 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.

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