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Thromb Haemost 1997; 77(02): 258-261
DOI: 10.1055/s-0038-1655949
Original Article
Schattauer GmbH Stuttgart

Factor V Leiden Is Not Common in Children with Portal Vein Thrombosis

C A Seixas
1   The Department of Pediatrics, São Francisco University, Bragança Paulista, SP, Brazil
,
G Hessel
2   The Department of Pediatrics, State University of Campinas, UNICAMP, Campinas, SP, Brazil
,
C C Ribeiro
3   Hematology-Hemotherapy Center, State University of Campinas, UNICAMP, Campinas, SP, Brazil
,
V R Arruda
3   Hematology-Hemotherapy Center, State University of Campinas, UNICAMP, Campinas, SP, Brazil
,
J M Annichino-Bizzacchi
3   Hematology-Hemotherapy Center, State University of Campinas, UNICAMP, Campinas, SP, Brazil
› Institutsangaben
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Publikationsverlauf

Received 08. Februar 1996

Accepted after revision 08. Oktober 1996

Publikationsdatum:
10. Juli 2018 (online)

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Summary

Portal vein thrombosis (PVT) is a rare condition affecting both children and adults, and occurs in association with a wide variety of clinical situations. On the other hand, the development of PVT in patients under these situations indicates that other contributing factors could be envolved. Recently a missense mutation in the factor V gene (1691G→A), known as factor V Leiden, has been identified and results in abnormal factor V product, resistant to proteolytic inactivation by activated protein C and thus predisposes to thrombosis. This study was carried out to verify if children with PVT have an increase in frequency of factor V Leiden. Allele-specific restriction analysis and single strand conformational polymorphism (SSCP) were used to test for factor V Leiden in 20 children with PVT and 64 normal children. None of the PVT children were heterozygous or homozygous for the factor V Leiden, and one control child was heterozygous. This study demonstrates that factor V Leiden is not common in children with PVT, and is not a prerequisite for this thrombotic event.

 

  • References

  • 1 Alvarez F, Bernard O, Brunelle F, Hadchouel P, Odièvre M, Alagille D. Portal obstruction in children. I. Clinical investigation and hemorrhage risk. JPed 1983; 103: 696-702
    PubMedGoogle Scholar
  • 2 Thompson EN, Sherlock S. The aetiology of portal vein thrombosis with particular reference to the role of infection and exchange transfusion. QJ Med 1964; 132: 465-479
    PubMedGoogle Scholar
  • 3 Orloff MJ, Orloff MS, Rambotti M. Treatment of bleeding esophagogastric varices due to extrahepatic portal hypertension: Results of portal-systemic shunts during 35 years. J Pediatr Surg 1994; 29: 142-151
    CrossrefPubMedGoogle Scholar
  • 4 Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Nat Acad Sci 1993; 90: 1004-1008
    CrossrefPubMedGoogle Scholar
  • 5 Koster T, Rosendaal FR, deRonde H, Briët E, Vandenbroucke J, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 1503-1506
    CrossrefPubMedGoogle Scholar
  • 6 Griffin JH, Evatt B, Wideman C, Fernández JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993; 82: 1989-1993
    PubMedGoogle Scholar
  • 7 Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-522
    CrossrefPubMedGoogle Scholar
  • 8 Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, deRonde H, van der VeldenPA, Reitsma PH. Mutation in blood coagulation factor V associated with resistence to activated protein C. Nature 1994; 369: 64-67
    CrossrefPubMedGoogle Scholar
  • 9 Majerus PW. Bad blood by mutation. Nature 1994; 369: 14-15
    CrossrefPubMedGoogle Scholar
  • 10 Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85: 1504-1508
    PubMedGoogle Scholar
  • 11 Arruda VR, Annichino-Bizzacchi JM, Costa FF, Reitsma PH. Factor V Leiden (FVQ506) is common in Brazilian population. Am J Hematol 1995; 39: 242-243
    PubMedGoogle Scholar
  • 12 Arruda VR, vonZuben PM, Soares MCP, Menezes RC, Annichino-Bizzacchi JM, Costa FF. Low incidence of Arg→Gln mutation in the factor gene among Amazonian Indians and Brazilian black population. Thromb Haemost 1996; 75: 860-861
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 13 Kodaira H, Ishida F, Ito T, Ichikava N, Shimodaira S, Takamiya O, Furihata K, Kiyosawa K, Kitano K. Arg 506 Gin factor V mutation is uncommon in Eastern Asian population. Blood 1995; 86: 917 a abstr 3658.
    PubMedGoogle Scholar
  • 14 Dilley A, Austin H, Cupertino M, Hooper C, Wenger N, Evatt B. Risk factors for deep vein thrombosis in an African-American population. Blood 1995; 86: 87 a abstr 337
    PubMedGoogle Scholar
  • 15 Petäjä J, Lundstrӧm U, Sairanen H, Marttinen E, Griffin JH. Activated protein resistence and central venous thrombosis after cardiac surgery in 2487 children. Blood 1995; 86: 922 a
    PubMedGoogle Scholar
  • 16 Laurell CB. Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. An Biol Chem 1966; 15: 45-52
    PubMedGoogle Scholar
  • 17 Sambrook J, Fritsch EF, Maniatis T. Molecular C loning A Laboratory Manual (ed2). Cold Spring Harbor New York Cold Spring Harbor Laboratory. 1989
    Google Scholar
  • 18 Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higushi R, Horn GT, Mullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487
    CrossrefPubMedGoogle Scholar
  • 19 Arruda VR, vonZuben PM, Annichino-Bizzacchi JM, Costa FF. Factor V Leiden (FVQ506) by non-radioactive single strand conformation polymorphism (SSCP). Sangre. 1996 in press.
    PubMedGoogle Scholar