Polycystic ovarian syndrome and thrombophilia.

BACKGROUND: Polycystic ovarian syndrome (PCOS) is associated with insulin-induced plasminogen activator inhibitor-1 (PAI-1) elevations. Since thrombophilic states correlate with high miscariage rates, as does PCOS, this study aimed at looking for thrombophilic predisposition in PCOS women compared with non-PCOS controls. METHODS: The prevalence of antithrombin III, protein S and protein C deficiencies, as well as factor V Leiden, prothrombin G20210A factor and methylene tetrahydrofolate reductase (MTHFR) mutations, was compared between two different groups of women, one with PCOS (n = 30) and one without PCOS (n = 45). RESULTS: Median proportions of activated protein C, S and antithrombin III as well as the activated protein C ratios were within normal ranges in both samples. There was no evidence that the genetic analysis for factor V Leiden or prothrombin factor differed between the two samples. The odds ratio (OR) of bearing a mutation on the MTHFR gene was 1.2-fold higher [95% confidence interval (CI) 0.470-3.065] in women with PCOS than in women without (P = 0.83). Although this difference is not statistically significant, it might indicate a slightly higher prevalence of heterozygous genotypes in women with PCOS (OR = 1.197, 95% CI 0.473-3.034). CONCLUSIONS: Molecular risk factors of hereditary thrombophilia do not show increased prevalence in women with PCOS in comparison with women in the general population. The existence of a possible trend towards higher prevalence of MTHFR mutation in women with PCOS needs further study, particularly regarding homocysteine levels.

Combined genetic defect (homogeneity for factor V Leiden and heterogeneity for prothrombin G20210A allele), in a young patient, with recurrent deep vein thrombosis and serious postphlebitic syndrome--a case report.

Just a few years ago, resistance to activated protein C (APCR) was reported to be of high significance representing a strong predisposing factor in the development of venous thrombosis (VT). A little while later, APCR was established to be the result of a point mutation of the factor V gene (factor V Leiden: a G-to-A transition at position 1691). Up to today, it is not certain whether factor V Leiden is in itself able to lead to VT, or whether it acts in synergy with other factors. Nevertheless, heterozygous subjects have a tenfold increase in the risk of VT when compared to general population, whereas the risk is 80 times greater in homozygous individuals. In 1996, a prothrombin gene mutation (prothrombin G20210A allele), which is a single-nucleotide G-to-A transition at position 20210 in the sequence of the 3'-untranslated region (3'UTR) on chromosome 11, was discovered. The presence of this mutant gene results in elevated plasma prothrombin concentrations, increasing the possibility for the development of VT. However, the coexistence of these two abnormalities, as well as the clinical consequence, have not yet been studied. So far, only a few reports are found in the literature describing the coexistence of both mutations. The authors present a 25-year-old patient with a simultaneous double mutation of the FV and F II gene. The patient was homozygous for the factor V Leiden and heterozygous for the prothrombin G20210A allele. It is unclear whether the coexistence of the two predisposes more to the development of VT than the summation of the two as independent factors.