Legg-Perthes disease and heritable thrombophilia

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 MTHTR 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 p 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.