Increased resistance to activated protein C and factor V Leiden in recurrent abortions. Review of other hypercoagulability factors

Hatzis, T.; Cardamakis, E.; Drivalas, E.; Makatsoris, K.; Bevan, D; Pantos, C.; Malliopoulou, Vassiliki; Tsagaris, N.; Kreatsa, O.; Antoniadi, Thalia; Petersen, Michael B.; Karageorgiou, H.; Mantouvalos, H.

doi:10.1080/13625189909040808

Cited by 17 publications

(13 citation statements)

References 40 publications

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“…However, Factor V H1299R is associated with inherited mild-activated protein C resistance but mainly in homozygous state and predisposing to thrombosis. Factor V Leiden, responsible for more than 75% of inherited activated protein C resistance, is a common inherited thrombotic risk factor and there are conflicting results about but its association with spontaneous abortions especially early in pregnancy is controversial (Brenner, 1999;Brenner et al, 1999;Hatzis et al, 1999;Tranquilli et al, 2004;Coulam et al, 2006;Rodger et al, 2010). Its prevalence in our study was higher in women than in men (2.8% and 2.4%), but not statistically significant.…”

Section: Discussioncontrasting

confidence: 34%

Detection of Thrombophilic Mutations Related to Spontaneous Abortions by a Multiplex SNaPshot Method

Madjunkova

Volk

Peterlin

et al. 2012

Genetic Testing and Molecular Biomarkers

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Spontaneous abortion is a significant clinical problem of different etiologies. Certain thrombophilia gene mutations have been associated with an increased risk of spontaneous abortion. Also, mutations in folate-related genes can lead to abnormal chromosomal segregation during meiosis which is the most common cause of spontaneous abortion. We have developed a multiplex single-base extension reaction assay that allows simultaneous analysis of 10 different mutations in thrombophilia-and folate-related genes (Factor V Leiden G1691A, Factor V H1299R, Factor II G20210A, Factor XIII V34L, PAI-I -675 4G/5G, FGB -455G/A, MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G). Using this method we have studied 232 women who had a spontaneous abortion and 209 of their male partners. Prevalence of Factor II G20210A and Factor V H1299R mutations was significantly higher in the women than in their male partners (2.4% and 0.7%, respectively [p = 0.0499] for the Factor II mutation and 9.3% and 5.7%, respectively [p = 0.0485] for the Factor V mutation). The prevalence of MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G mutations did not differ between the studied groups. In conclusion, we have developed a rapid, simple, reliable, and inexpensive multiplex SNaPshot method for determination of 10 thrombophilic mutations that may result in spontaneous abortions.

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Section: Discussioncontrasting

confidence: 34%

Detection of Thrombophilic Mutations Related to Spontaneous Abortions by a Multiplex SNaPshot Method

Madjunkova

Volk

Peterlin

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…Another study demonstrated a fetal loss of between 28 to 32% in women with antithrombin III deficiency compared with 23 % in unaffected controls (Sanson et al, 1996). However no significant association between antithrombin deficiency and recurrent loss was found in other studies (Hatzis et al, 1999;Roque et al, 2004;Folkeringa et al, 2007). A Spanish retrospective study found 56% of women with antithrombin deficiency had an adverse pregnancy outcome (Robertson et al, 2006).…”

Section: Antithrombin Deficiencymentioning

confidence: 99%

Inherited and Acquired Thrombophilia in Pregnancy

Dawood¹

2011

Thrombophilia

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“…58,61,62 The ORs for elevated anticardiolipin antibodies and lupus anticoagulants were 3.40 and 2.97, respectively. [63][64][65][66][67][68][69] However, pooled data on lupus anticoagulants indicated significant heterogeneity (p = 0.04). Sensitivity analysis was performed.…”

Section: Early Pregnancy Lossmentioning

confidence: 99%

Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study

Wu¹,

Robertson²,

Twaddle³

et al. 2006

Health Technol Assess

308

177

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Thrombophilia is associated with increased risks of VTE in women taking oral oestrogen preparations and patients undergoing major elective orthopaedic surgery, and of VTE and adverse pregnancy outcomes in women with thrombophilia during pregnancy. There is considerable difference in the magnitude of the risks among different patient groups with different thrombophilic defects. In women who are on combined oral contraceptives, the OR of VTE among those who are carriers of the FVL mutation was 15.62 (95% confidence interval 8.66 to 28.15). However, in view of the prevalence of thrombophilia and the low prevalence of VTE in non-users of combined oral contraceptives, the absolute risk remains low. Significant risks for VTE and adverse pregnancy outcomes have been established with individual thrombophilic defects. Thrombophilic defects including FVL, high plasma factor VIIIc levels and prothrombin G20210A are associated with the occurrence of postoperative VTE in elective hip or knee replacement therapy. These associations are observed in patients who were given preoperative thromboprophylaxis and are, therefore, of clinical significance. Universal thrombophilia screening in women prior to prescribing oral oestrogen preparations, in women during pregnancy and in patients undergoing major orthopaedic surgery is not supported by current evidence. The findings from this study show that selective screening based on prior VTE history is more cost-effective than universal screening. Large prospective studies should be undertaken to refine the risks and establish the associations of thrombophilias with VTE among hormone users and in patients undergoing orthopaedic surgery. The relative value of a thrombophilia screening programme to other healthcare programmes needs to be established.

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Increased resistance to activated protein C and factor V Leiden in recurrent abortions. Review of other hypercoagulability factors

Abstract: Increased activated protein C resistance appears to be an important factor in women with recurrent abortions. These data indicate the need for routine investigation of activated protein C resistance in women with recurrent abortions.

Cited by 17 publications

References 40 publications

Detection of Thrombophilic Mutations Related to Spontaneous Abortions by a Multiplex SNaPshot Method

Detection of Thrombophilic Mutations Related to Spontaneous Abortions by a Multiplex SNaPshot Method

Inherited and Acquired Thrombophilia in Pregnancy

Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study

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