Hypercoagulable thrombophilic defects and hyperhomocysteinemia in patientswith recurrent pregnancy loss

PROBLEM: Placental perfusion may be compromised by increased thrombosis tha t leads to pregnancy complications and recurrent pregnancy loss (RPL). Sinc e heritable thrombophilic defects and hyperhomocysteinemia are associated w ith increased thrombosis, their prevalence was evaluated in RPL patients wi th special emphasis on combinations of the above pathologies. METHODS OF STUDY: Evaluation of the prevalence of heritable thrombophilic d efects (protein S, protein C, anti-thrombin III deficiency, and the mutatio ns for factor V Leiden, methylenetetrahydrofolate reductase [MTHFR], and pr othrombin gene), hyperhomocysteinemia, and combinations of these pathologie s in 36 non-pregnant recurrent aborters compared with 40 parous women. RESULTS: We found a relatively high prevalence of deficiencies of plasma co agulation proteins in RPL patients compared with the controls. A non-signif icant different increase in factor V Leiden mutation was detected (6/36 [16 %] compared with 2/40 [5%] in the control group, P = 0.14]. Hyperhomocystei nemia was found in 31% of the RPL patients. MTHFR mutation homozygosity was found in 6/36 (16%) of the aborting patients. Combinations of hyperhomocys teinemia and MTHFR mutation were found in three patients, with folate defic iency in two patients, and with B-12 deficiency in three. CONCLUSIONS: Combinations of gene mutations, plasma protein deficiencies, a nd hyperhomocysteinemia, which are associated with an increased thrombotic risk, are more common in RPL patients compared with controls. Large-scale p revalence studies are needed in order to draw conclusions as to the causati ve relation of such a condition and RPL.