title: Legg-perthes disease and heritable thrombophilia.
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.
authors.affiliation: Department of Orthopaedic Surgery, Hospital de Móstoles, Madrid, Spain. lopezfranco_cot@yahoo.es
authors.forename: Mariano
authors.initials: M
authors.lastname: López-Franco
authors.forename: Gaspar
authors.initials: G
authors.lastname: González-Morán
authors.forename: José Carlos
authors.initials: JC
authors.lastname: De Lucas
authors.forename: Pilar
authors.initials: P
authors.lastname: Llamas
authors.forename: Jaime Fernández
authors.initials: JF
authors.lastname: de Velasco
authors.forename: José Carlos
authors.initials: JC
authors.lastname: Vivancos
authors.forename: Tomás
authors.initials: T
authors.lastname: Epeldegui-Torre
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004247:DNA / Q000032:analysis; D004587:Electrophoresis, Agar Gel; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007873:Legg-Calve-Perthes Disease / Q000097:blood / Q000209:etiology / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000235:genetics* / Q000378:metabolism; D019851:Thrombophilia / Q000097:blood / Q000150:complications* / Q000151:congenital
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2)