Legg-perthes disease and heritable thrombophilia

J Pediatr Orthop. 2005 Jul-Aug;25(4):456-9. doi: 10.1097/01.bpo.0000158781.29979.cf.

Abstract

The etiology of Perthes' disease is unclear. Recent reports have suggested that inheritable thrombophilic disorders may be one of its pathogenetic causes. The G20210A prothrombin gene, factor V Leiden, and MTHFR C677T mutations have been identified as predisposing genetic factors for thrombosis. Ninety children diagnosed with Perthes' disease were studied. A family history of thrombosis and any other personal thromboembolic events were researched. PCR and endonuclease digestion were used to analyze factor V Leiden, prothrombin G20210A, and MTHFR C677T. Two hundred healthy donors were included as a control group. No patient had a family or personal history of early thrombotic events. Four children with Perthes' disease (4.4%) were heterozygous for G20210A polymorphism compared with controls (odds ratio: 2.07; 95% confidence interval: 0.40-8.46). No association between factor V Leiden and Perthes' disease was observed. Three patients (3.33%) were heterozygous for factor V Leiden (odds ratio: 1.36; 95% confidence interval: 0.32-5.84). The prevalence of different genotypes of C677T MTHFR did not show statistical differences compared with controls. Eleven patients were homozygous for this polymorphism (odds ratio: 1.02; 95% confidence interval: 0.42-2.44). This study does not support the screening of this group of polymorphism in patients with Perthes' disease.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA / analysis
  • Electrophoresis, Agar Gel
  • Factor V / genetics*
  • Factor V / metabolism
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Legg-Calve-Perthes Disease / blood
  • Legg-Calve-Perthes Disease / etiology
  • Legg-Calve-Perthes Disease / genetics*
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / blood
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Mutation
  • Odds Ratio
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Prothrombin / genetics*
  • Prothrombin / metabolism
  • Thrombophilia / blood
  • Thrombophilia / complications*
  • Thrombophilia / congenital

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin
  • DNA
  • Methylenetetrahydrofolate Reductase (NADPH2)