Thrombophilia workup revealed prothrombin G20210A mutation (heterozygous), C677T mutation of methylenetetrahydrofolate reductase gene (homozygous), elevated level of lipoprotein (a), and high level of coagulation factor VIII.
The case of coronary artery bypass graft surgery in a 51-year-old woman with a heterozygous form of factor V Leiden, prothrombin mutation G20210A and tumour necrosis factor-alpha -308 G-A associated with high lipoprotein(a) and homocysteinemia levels, as well as elevated factors VIIIc and IX, is presented.
One had the the prothrombin G20210A mutation in the heterozygote state, four had lipoprotein(a) elevation, two had factor VIII elevation, one had a decreased protein S level, one had a decreased protein C level, one had antiphospholipid positivity, and two had histories of infection.
Recurrent pulmonary embolism in a 13-year-old male homozygous for the prothrombin G20210A mutation combined with protein S deficiency and increased lipoprotein (a).
The present study was designed to prospectively evaluate the role of the TT677 methylenetetrahydrofolate reductase (MTHFR) genotype, the prothrombin G20210A mutation, the factor V G1691A mutation, deficiencies of protein C, protein S, antithrombin, and increased lipoprotein (a) concentrations in leukemic children treated according to the ALL-Berlin-Frankfurt-Muenster (BFM) 90/95 study protocols with respect to the onset of vascular events.