Associations between phenotypes of preeclampsia and thrombophilia

Berks, Durk; Duvekot, Johannes J.; Basalan, Hillal; Maat, Moniek P.M. de; Steegers, Eric A.P.; Visser, Willy

doi:10.1016/j.ejogrb.2015.09.021

Cited by 21 publications

(11 citation statements)

References 54 publications

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“…Likewise Lin and August [27] in their systemic review and meta-analyses which included 31 studies (7522 patients) reported that over all women with Factor-V Leiden were at 1.81 higher risk of preeclampsia. In contrary previous study found no association between preeclampsia and factor V Leiden [11, 12]. A systematically review showed no association of Factor-V Leiden with preeclampsia [28].…”

Section: Discussionmentioning

confidence: 90%

“…The results, however, are still inconclusive and contradictory. While some studies reported association between preeclampsia and Factor-V Leiden [8–10], others fail to find an association [11, 12]. Likewise, prothrombin G20210A variation were associated with sever preeclampsia in some studies [13, 14], others found no association [15, 16].…”

Section: Introductionmentioning

confidence: 99%

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Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study

Ahmed

Adam

Elzaki³

et al. 2019

BMC Med Genet

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BackgroundPreeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan.MethodsA case –controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 2017. The cases were women with preeclampsia and healthy pregnant women were the controls (180 women in each arm of the study). Genotyping for Factor-V Leiden 1691G/A and Prothrombin gene variation 20210G/A was done by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP).ResultsThere was no significant difference in the age, parity, body mass index (BMI) and the other characteristics between the cases and the controls. Genotypes distribution of Factor V Leiden 1691G/A and prothrombin gene 20210G/A in controls was in accordance with the Hardy–Weinberg equilibrium (P > 0.05). The factor V Leiden-variation was present in 9.6% of the cases compared with 0.6% of the controls, P < 0.001 (OR = 18.60, 95% CI = 2.38–136.1). Only 4 patients with severe preeclampsia had homozygous variation A/A and it was not detected in the controls. Prothrombin G20210A variations not detected neither in the cases nor in the controls group.ConclusionsHigh prevalence of Factor V Leiden 1691G/A variation in preeclamptic patients compared to controls suggest an involvement of this variation in predisposing to preeclampsia in this setting.

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Section: Discussionmentioning

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study

Ahmed

Adam

Elzaki³

et al. 2019

BMC Med Genet

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“…Thrombophilia has been reported to play an important pathoetiologic role in RAO and RVO, 18 as previously documented in this article, which is congruent with findings in our’s 18 , 21 , 53 and other’s 70 – 74 studies. Thrombophilia is a known pathoetiology for adverse obstetrical outcomes, including, as in the current study, miscarriage, 75 – 80 recurrent miscarriage, 48 , 49 , 57 , 81 pre-eclampsia, 82 , 83 and eclampsia. 84 , 85 Unique to this article is our emphasis on the often central diagnostic role of the ophthalmologist, who, by revealing the pathologic importance of thrombophilia in OVO, opens the gates to primary and secondary prevention and therapy of thrombosis in other vascular beds, including the uterus and placenta, as in this report.…”

Section: Discussionmentioning

confidence: 58%

Retinal vascular occlusion: a window to diagnosis of familial and acquired thrombophilia and hypofibrinolysis, with important ramifications for pregnancy outcomes

Dixon¹,

Bruce²,

Glueck³

et al. 2016

OPTH

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AimOur specific aim was to document the pathoetiologic importance of thrombophilia among females presenting with severe ischemic retinal vein (RVO) or retinal artery (RAO) occlusion, without typical risk factors, and to emphasize that the ophthalmologists’ diagnosis of thrombophilia has important diagnostic and therapeutic downstream ramifications for nonocular thrombosis, including reproductive outcomes.MethodsWe evaluated familial and acquired thrombophilia in 60 females with RVO (central RVO, n=52; branch RVO, n=8) and 16 with RAO (central RAO, n=11; branch RAO, n=5). They were referred by retinologists, without typical risk factors for RVO/RAO and/or severe ocular ischemic presentation. We focused on extraocular thrombotic events, particularly pregnancy complications, including unexplained spontaneous abortion, pre-eclampsia–eclampsia. Thrombophilia measurements in the 76 females were compared with 62 healthy normal females without ocular vascular occlusions (OVOs).ResultsThe 76 females with OVO were more likely than 62 normal female controls to have high homocysteine (24% vs 0%, P<0.0001), high anticardiolipin antibody (immunoglobulin M, 17% vs 3%, P=0.012), high (>150%) factor VIII (42% vs 11%, P<0.0001), and high (>150%) factor XI (22% vs 4%, P=0.004). Of the 76 females, 26 (34%) had ≥1 spontaneous abortion; 17 (22%) had ≥2 spontaneous abortions and/or pre-eclampsia–eclampsia. Compared to 62 healthy female controls, these 17 females with pregnancy complications had high homocysteine (29% vs 0%, P=0.0003), high anticardiolipin antibody immunoglobulin M (24% vs 3%, P=0.02), high factor VIII (38% vs 11%, P=0.02), and were marginally more likely to be heterozygous for the factor V Leiden mutation (19% vs 3%, P=0.058).ConclusionIn females lacking typical risk factors for retinal vascular occlusion or severely ischemic presentation, by diagnosing thrombophilia as an etiology for OVO, the ophthalmologist opens a window to family screening and preventive therapy, with particular relevance to pregnancy outcomes and venous thromboembolism.

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“…46 However, the relationship between inherited thrombophilia and utero-placental thrombosis or preeclampsia is unclear. 84,85 Routine genetic testing for these conditions is currently not recommended by the American College of Obstetricians and Gynecologists (ACOG). 84…”

Section: Testing Of Pregnant Women and Patients With Recurrent Adversmentioning

confidence: 99%

Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Zhang

Taylor

Huang

et al. 2018

Genetics in Medicine

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on behalf of the ACMG Laboratory Quality Assurance Committee Disclaimer These ACMG Standards are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards is voluntary and does not necessarily assure a successful medical outcome. These Standards should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards. They also are advised to take notice of the date any particular technical standard was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.

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Associations between phenotypes of preeclampsia and thrombophilia

Cited by 21 publications

References 54 publications

Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study

Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study

Retinal vascular occlusion: a window to diagnosis of familial and acquired thrombophilia and hypofibrinolysis, with important ramifications for pregnancy outcomes

Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

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