A Schmitz1, J Pförtner, A Protzel, U Harbrecht. 1. Klinik und Poliklinik für Orthopädie, Rheinischen Friedrich-Wilhelms-Universität Bonn. a.schmitz@uni-bonn.de
Abstract
AIM: Thrombophilic mutations may play a role in the pathogenesis of the juvenile osteonecrosis of the femoral head, Perthes' disease. We investigated whether children with Perthes' disease have an increased incidence of mutations of factor V (Leiden) and prothrombin (G2O210A), which predispose to thrombosis. METHODS: For this pilot study, we analysed the data of twenty consecutive children (16 boys, 4 girls, mean age at diagnosis 6.4 years). According to Catterall's classification of severity, 2 children were in group 1, 7 in group 2, 8 in group 3, and 3 were in the most severe group 4. Mutations of factor V and prothrombin were identified in EDTA-blood by PCR amplification, digestion with restriction enzymes, and gel electrophoresis. RESULTS: Heterozygoty for the factor V mutation was detected in two children, for the prothrombin mutation in one child. Both results did not differ significantly from the incidence in Germany, which is 0.05 for factor V mutations and 0.04 for prothrombin mutations. CONCLUSIONS: For the presented group of children with Perthes' disease, we did not find an increased rate of factor V or prothrombin mutations compared to the natural incidence. In accordance to other recent studies, our results do not support a link between inherited thrombophilic mutations and Perthes' disease.
AIM: Thrombophilic mutations may play a role in the pathogenesis of the juvenile osteonecrosis of the femoral head, Perthes' disease. We investigated whether children with Perthes' disease have an increased incidence of mutations of factor V (Leiden) and prothrombin (G2O210A), which predispose to thrombosis. METHODS: For this pilot study, we analysed the data of twenty consecutive children (16 boys, 4 girls, mean age at diagnosis 6.4 years). According to Catterall's classification of severity, 2 children were in group 1, 7 in group 2, 8 in group 3, and 3 were in the most severe group 4. Mutations of factor V and prothrombin were identified in EDTA-blood by PCR amplification, digestion with restriction enzymes, and gel electrophoresis. RESULTS: Heterozygoty for the factor V mutation was detected in two children, for the prothrombin mutation in one child. Both results did not differ significantly from the incidence in Germany, which is 0.05 for factor V mutations and 0.04 for prothrombin mutations. CONCLUSIONS: For the presented group of children with Perthes' disease, we did not find an increased rate of factor V or prothrombin mutations compared to the natural incidence. In accordance to other recent studies, our results do not support a link between inherited thrombophilic mutations and Perthes' disease.