Abstract
Venous and arterial thromboembolism can occur in patients with homocystinuria. Resistance to activated protein C, which is caused by a single point mutation in the gene for factor V, renders an individual at risk for thrombosis. It has been suggested that coexistence of hereditary homocystinuria and factor V Leiden mutation might jointly play a role in the development of thrombosis. We analysed six patients with homocystinuria due to cystathionine β-synthase deficiency for factor V Leiden and prothrombin G20210A mutations. Only one patient was found to have the factor V Leiden mutation in homozygous form and this patient had suffered from severe thrombosis. One patient was found to be heterozygous with no documented thrombosis. None of the patients had prothrombin G20210A mutation. We stress the necessity for screening for known thrombophilic risk factors in patients with cystathonine β-synthase deficiency. The coexistence of the factor V Leiden mutation can cause severe thrombotic events in patients with homocystinuria.
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Kalkanoğlu, H.S., Coşkun, T., Aydoğdu, S.D. et al. Factor V Leiden mutation in Turkish patients with homozygous cystathionine β-synthase deficiency. J Inherit Metab Dis 24, 367–369 (2001). https://doi.org/10.1023/A:1010556603183
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DOI: https://doi.org/10.1023/A:1010556603183