Combined genetic mutations have remarkable effect on deep venous thrombosis and/or pulmonary embolism occurence

Portal vein thrombosis – a primer for the general physician

“…In some patients, multiple mutations may be present. 21 Paroxysmal nocturnal haemoglobinuria is a rare haematological disorder that can also increase the risk of PVT. In all patients who develop PVT in the absence of a clear local risk factor, lactate dehydrogenase -a marker of haemolysisshould be done and if abnormal, haematology consultation should be sought for detailed tests for this condition.…”

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“…These polymorphisms may predispose patients to venous thrombosis and thromboembolic phenomena, even in the absence of any other predisposing factors. 23 The MTHFR C677T polymorphism is a C-to-T transition at base pair 677 (exon 4), leading to an amino acid substitution (alanine to valine) at codon 222 of the MTHFR protein. 24 Serum homocysteine concentrations have been found to be significantly higher in TT than in CC homozygotes.…”

Genetic and genomic approaches to pulmonary vascular diseases

“…G20210A mutation in the prothrombin gene (PTM) was first discovered in 1996 [52]. The mutation causes an increase in mRNA production due to the transitions among guanineadenine nucleotides in 20210 position, leading to increase prothrombin level and the risk of thromboembolic disease [53]. A mildly elevated homocysteine (Hcy) level is generally accepted as a risk factor as well for atherosclerosis and thrombotic tendency [54].…”