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Inherited risk factors for thrombophilia among children with Legg-Calvé-Perthes disease
V R Arruda1, W D Belangero, M C Ozelo
1Hematology-Hemotherapy Center, State University of Campinas, Campinas-SP, Brazil. varruda@hotmail.com
Insights
The factor V Leiden mutation, a common inherited hypercoagulability risk, was more prevalent in Brazilian children with Legg-Calvé-Perthes disease (LCPD). This finding suggests a link between factor V Leiden heterozygosity and LCPD development in this population.
Area of Science:
- Genetics
- Pediatrics
- Hematology
Background:
- Inherited hypercoagulability is a suspected cause of vascular thrombosis leading to Legg-Calvé-Perthes disease (LCPD).
- Common inherited risk factors include factor V Leiden, prothrombin gene variants, and MTHFR gene mutations.
Purpose of the Study:
- To investigate the prevalence of common inherited hypercoagulability risk factors in Brazilian children with LCPD.
- To determine if factor V Leiden, prothrombin gene variants, or MTHFR gene mutations are associated with LCPD in this population.
Main Methods:
- Investigated 61 Brazilian children diagnosed with LCPD and compared them to 296 healthy individuals.
- Assessed for factor V Leiden mutation, prothrombin gene 20.210G-->A transition, and MTHFR gene 677C-->T homozygosity.
Main Results:
- The prevalence of the factor V Leiden mutation was significantly higher in LCPD patients (4.9%) compared to controls (0.7%; p = 0.03).
- No prothrombin gene variant was found in any patient.
- No significant difference in MTHFR gene 677C-->T homozygosity was observed between LCPD patients (3.2%) and controls (2.6%; p = 0.64).
Conclusions:
- Heterozygosity for the factor V Leiden mutation is the only identified inherited risk factor associated with LCPD development in the studied Brazilian population.
- The prothrombin gene variant and MTHFR gene homozygosity do not appear to be associated with LCPD in this cohort.
Abstract:
An inherited tendency to hypercoagulability has been suggested as a cause of vascular thrombosis resulting in Legg-Calvé-Perthes disease (LCPD). Here we carried out an investigation of the most common inherited risk factors for hypercoagulability including the mutation in the factor V gene (factor V Leiden), the transition 20.210G-->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 Brazilian children with LCPD, who were compared with 296 individuals from the general 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 patient had the prothrombin gene variant, and no difference was found between patients and controls when homozygosity for MTHFR-T (3.2 vs. 2.6%: p = 0.64) was determined. These data suggest that in our population, the heterozygosity for factor V Leiden was the only inherited risk factor associated with the development of LCPD.