Inherited risk factors for thrombophilia among children with Legg-Calve-Perthes disease

An inherited tendency to hypercoagulability has been suggested as a cause o f vascular thrombosis resulting in Legg-Calve-Perthes disease (LCPD). Here we carried out an investigation of the most common inherited risk factors f or hypercoagulability including the mutation in the factor V gene (factor V Leiden), the transition 20.210 G-->A in the prothrombin gene, and also the homozygosity for the 677C-->T transition in the methylenetetrahydrofolate reductase gene (MTHFR). The investigation was carried out among 61 Brazilia n children with LCPD, who were compared with 296 individuals from the gener al population. The prevalence of the factor V Leiden mutation was higher in LCPD patients than in the controls (4.9 vs. 0.7%; p = 0.03). However, no p atient had the prothrombin gene variant, and no difference was found betwee n patients and controls when homozygosity for MTHFR-T (3.2 vs. 2.6%;p = 0.6 3) was determined. These data suggest that in our population, the heterozyg osity for factor V Leiden was the only inherited risk factor associated wit h the development of LCPD.