Key result
Heritable thrombophilia shows no association with Legg-Calvé-Perthes disease risk or disease extent.
Why the study?
Heritable thrombophilic disorders had been proposed as an aetiological cause of Legg-Calvé-Perthes disease, prompting evaluation of the incidence of thrombophilia and its relationship to disease severity.
Does heritable thrombophilia play an aetiological role or correlate with disease severity in children with Legg-Calvé-Perthes disease compared with controls?
Case-Control (n=112)
Does heritable thrombophilia play an aetiological role or correlate with disease severity in children with Legg-Calvé-Perthes disease compared with controls?
Answers are grounded in this paper and cite their sources.
This case-control study found no statistically significant association between common heritable thrombophilias and the presence or severity of Legg-Calvé-Perthes disease.
H eritable thrombophilic disorders have been proposed as one of the causes for Legg-Calvé-Perthes disease.A total of 62 patients diagnosed with this disease between 1988 and 1997 and 50 controls were screened for thrombophilia.The incidence and relationship of thrombophilia to the severity of the disease were evaluated.One patient and none of the controls had protein S deficiency.One of the control group and one of the patients had protein C deficiency with the latter child also having a combined deficiency with a mutant factor V gene.The number of children with a mutant factor V gene, protein C deficiency, who were homozygous for the C 677T polymorphism of methylenetetrahydrofolate reductase or were heterozygous for mutant G20210A prothrombin did not differ statistically in the study and the control groups.No patient had antithrombin deficiency or positive lupus anticoagulant.We found no correlation between thrombophilia and the extent of the disease.The most common risk factors for arteriovenous thromboembolism showed no statistical significance in our patients compared with the control group or with the general population.These data do not confirm an aetiological role for thrombophilia in Perthes' disease.
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Hayek et al. (1999) conducted a case-control in Legg-Calvé-Perthes disease (n=112). Heritable thrombophilia (protein S/C deficiency, mutant factor V, MTHFR C677T, prothrombin G20210A, antithrombin deficiency, lupus anticoagulant) vs. Controls without Legg-Calvé-Perthes disease was evaluated on Incidence of heritable thrombophilia and correlation with severity/extent of Legg-Calvé-Perthes disease. Heritable thrombophilia did not differ statistically between 62 Legg-Calvé-Perthes disease patients and 50 controls (e.g., protein C deficiency 1.6% vs 2.0%), with no correlation to disease extent.
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