2000•PubMedRequires access
A boy with venous thrombosis, homozygous for factor V Leiden, prothrombin G20210A and MTHFR C667t mutations, but belonging to an asymptomatic family.
José Manuel Soria, Rosa Quintana, Cristina Vallve, Gemma Iruín, Cristina Cortés, J. Fontcuberta
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Abstract
We evaluated a 9-year old boy presenting with deep venous thrombosis who was homozygous for factor V Leiden, prothrombin 2021 OA and methylenetetrahydrofolate reductase C677T mutations. All of his relatives who were either triple- or double-heterozygotes were asymptomatic. This observation indicates that thrombophilia is a complex genetic disorder and there is great deal more to be learned about this disease.