Incidence of the Factor V Leiden-mutation, Coagulation Inhibitor Deficiency, and Elevated Antiphospholipid-antibodies in Patients with Preeclampsia or HELLP–Syndrome

Tempelhoff, Georg–Friedrich von; Heilmann, L.; Spanuth, Eberhard; Kunzmann, E.; Hommel, Gerhard

doi:10.1016/s0049-3848(00)00312-1

Cited by 67 publications

(43 citation statements)

References 5 publications

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“…[15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32] Our findings in a large white population provide a clear demonstration of the strong association of severe PE with thrombophilia. Diagnosis of PE and assessment of its severity were in strict accordance with the American College of Obstetricians and Gynecologists criteria.…”

Section: Discussionmentioning

confidence: 82%

“…In addition, the limited size of studies of the association of thrombophilia with PE reduces their statistical significance and may result in its overestimation or underestimation. 15,17,23,24,27,31,32 The size of our sample is one of the strengths of our study. Even so, it was insufficient to detect significant differences in the prevalence of inherited deficiency of protein C, protein S, and antithrombin III, all rather infrequent.…”

Section: Discussionmentioning

confidence: 99%

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Thrombophilia Is Significantly Associated With Severe Preeclampsia

Mello

Parretti²,

Marozio³

et al. 2005

Hypertension

141

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Abstract-The role of thrombophilia in the pathogenesis of preeclampsia is controversial. The aim of this case-controlled study was to determine whether thrombophilia increases the risk of preeclampsia or interferes with its clinical course. A total of 808 white patients who developed preeclampsia (cases) and 808 women with previous uneventful pregnancies (controls) matched for age and parity were evaluated for inherited and acquired thrombophilia (factor V Leiden; factor II G20210A; methylenetetrahydrofolate reductase C677T; protein S, protein C, and antithrombin III deficiency; anticardiolipin antibodies; lupus anticoagulant; and hyperhomocysteinemia). Odds ratios (ORs) with 95% confidence intervals (CIs) for risk of being carriers of thrombophilia in cases compared with controls and for risk of maternal life-threatening complications and adverse perinatal outcomes in preeclamptic patients with or without thrombophilia were calculated. Women with severe preeclampsia (406 cases) had a higher risk (OR, 4.9; 95% CI, 3.5 to 6.9) of being carriers of either an inherited or acquired thrombophilic factor, except for protein S, protein C, and antithrombin deficiency. In women with mild preeclampsia (402 cases), only prothrombin and homozygous methylenetetrahydrofolate reductase gene mutations were significantly more prevalent than in the controls. Thrombophilic patients with severe preeclampsia are at increased risk of acute renal failure (OR, 1.8; 95% CI, 1.5 to 2.2), disseminated intravascular coagulation (OR, 2.7; 95% CI, 1.1 to 6.4), abruptio placentae (OR, 2.6; 95% CI, 1.2 to 6.0) and perinatal mortality (OR, 1.7; 95% CI, 1.5 to 2.2) compared with nonthrombophilic preeclamptic patients. Our study demonstrates a significant association between maternal thrombophilia and severe preeclampsia in white women. Thrombophilia also augments the risk of life-threatening maternal complications and adverse perinatal outcomes in preeclamptic patients.

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Section: Discussionmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 99%

Thrombophilia Is Significantly Associated With Severe Preeclampsia

Mello

Parretti²,

Marozio³

et al. 2005

Hypertension

141

View full text Add to dashboard Cite

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“…Previous association studies on thrombophilic genotypes and HELLP syndrome are summarized in Table 4 (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26). Most of them were limited to a small sample size and genotyping was not done simultaneously for all of the three most common inherited thrombophilias.…”

Section: Discussionmentioning

confidence: 99%

Maternal Factor V Leiden Mutation Is Associated With HELLP Syndrome in Caucasian Women

Muetze

Leeners

Ortlepp

et al. 2008

Obstetrical &Amp; Gynecological Survey

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Objective. There is growing evidence that hypertensive pregnancy complications and other adverse pregnancy outcomes are associated with the presence of inherited or acquired thrombophilias. As hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome is one of the most severe forms of pre-eclampsia we aimed to assess the prevalence of the factor V Leiden, the prothrombin 20210G >A mutation and the methylenetetrahydrofolate reductase (MTHFR) 677C >T polymorphism in women with HELLP syndrome and in their fetuses from the same index pregnancy. Design. The study was performed retrospectively in a case-control design. Sample. Seventy-one mother-child pairs with HELLP syndrome and 79 control mother-child pairs with uncomplicated pregnancies were included in the study. Methods. Genotyping of the three thrombophilic mutations was performed using the LightCycler technology. The chi-squared test was used for statistical analysis. Main outcome measures were maternal and fetal genotypes and their correlation with clinical parameters. Results. Maternal heterozygosity for factor V Leiden was significantly more prevalent in the HELLP group than in controls (OR 4.45, 95% CI 1.31-15.31). No significant association was observed for maternal prothrombin mutation or MTHFR polymorphism (p=0.894, p=0.189, respectively). The fetal genotype was not associated with HELLP syndrome for any of the three mutations investigated. Analysis of gene-gene interactions and genotype-phenotype correlation with respect to clinical parameters and perinatal outcome revealed no further differences. Conclusions. Our study confirms that women heterozygous for factor V Leiden have an increased risk of developing HELLP syndrome, while the most frequent mutations of the prothrombin and MTHFR gene do not play a major role in the pathogenesis of HELLP syndrome. AbstractObjective: There is growing evidence that hypertensive pregnancy complications and other adverse pregnancy outcomes are associated with the presence of inherited or acquired thrombophilias. As HELLP syndrome is one of the most severe forms of pre-eclampsia we aimed to assess the prevalence of the factor V Leiden, the prothrombin 20210G>A mutation and the MTHFR 677C>T polymorphism in women with HELLP syndrome and in their fetuses from the same index pregnancy. Design:The study was performed retrospectively in a cas-control design. Sample: 71 motherchild pairs with HELLP syndrome and 79 control mother-child pairs with uncomplicated pregnancies were included in the study. Methods: Genotyping of the three thrombophilic mutations was performed using the LightCycler technology. The chi-squared test was used for statistical analysis.

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“…Thrombophilia was found in four of the seven multiparous women with preeclampsia (57%) who had had obstetric complications in a previous pregnancy which indicates high rate of recurrence in these women. Von Tempelhof et al [59] in Germany examined the FV Leiden mutation, PS, PC, AT III, aCL and LAC in 61 women with severe preeclampsia (44 nulliparous) of whom 32 had HELLP syndrome. The FV Leiden mutation prevalence was higher in both severe preeclampsia and HELLP as were also aCL or LAC.…”

Section: Aquired Thrombophiliamentioning

confidence: 99%

“…[86][87][88] Several studies albeit small, showed that in multiparous women with thrombophilias and severe pregnancy complications there is high (66-83%) recurrence rate in subsequent pregnancies, while the type of complication may change from one pregnancy to the other; e.g. severe preeclampsia to IUGR [47,58,59,63]. …”

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confidence: 99%

Thrombophilia and pregnancy

Brenner¹

2005

Eur J Clin Investigation

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Pregnancy is hypercoagulable state. The field of thrombophilia; the tendency to thrombosis, has been developed rapidly and has been linked to many aspects of pregnancy. It is recently that severe pregnancy complications such as severe preeclampsia intrauterine growth retardation abruptio placentae and stillbirth has been shown to be associated with thrombophilia. Recurrent miscarriage and has also been associated with thrombophilia. Finally, thromboembolism in pregnancy as in the non-pregnant state is linked to thrombophilia. In this review all aspects of thrombophilia in pregnancy are discussed, and also all prophylactic and therapeutic implications.Thrombophilias are inherited or acquired conditions which predispose an individual to thromboembolism. Deficiencies of protein S C and antithrombin are rare and each of them is found in about 3% of patients with thrombosis. Recently, three important inherited thrombophilias were discovered which are responsible of the majority of thromboembolic events in patients with otherwise no apparent risk for thrombosis. Resistance to activated protein C caused by an adenine 506 guanine (A506G) mutation in factor V (factor V Leiden) has been linked with an increased risk for venous thromboembolism [1][2][3]. Heterozygosity for the factor V (FV) Leiden mutation is found in about 5% of the population and the mutation is responsible of 20-30% of venous thromboembolism events. A recently described guanine 20210 adenine mutation in prothrombin is associated with higher plasma prothrombin concentrations and increased risk for venous thromboembolism [4] and cerebral-vein thrombosis [5]. Homozygosity for the cytosine 677 thymine (C677T) mutation in methylenetetrahydrofolate reductase (MTHFR) results in decreased synthesis of 5-methyltetrahydrofolate, the primary methyl donor in the conversion of homocysteine to methionine and the resulting increase in plasma homocysteine concentrations is a risk factor for thrombosis [6,7]. The mutation is responsible for reduced MTHFR activity and is the most frequent cause of mild hyperhomocysteinemia and can be found in 5-15% of the population.Homocysteine is an independent risk factor for atherosclerosis, stroke, peripheral vascular disease and cardiovascular diseases [8,9]. Homocysteine concentrations are affected by nutrition. A deficiency in folate, B-6, and/or B-I2 causes elevation of homocysteine. Homocysteine concentrations are also affected by genetics such as cystathionine beta-synthase deficiency (10) and C677T MTHFR gene mutation [7]. Hyperhomocysteinemia promotes vascular damage by several mechanisms. Many of the endothelial vascular changes associated with hyperhomocysteinemia can be found in preeclampsia [11][12][13][14][15]. thrombophilia is substantially increased. The risk of VTE in pregnant women may be further amplified by the type of underlying genetic predisposition, like, homozygosity for a mutation, the presence of multiple mutations (multigenic defects) or thrombophilic anomalies [16][17][18][19].Thrombophilia and ad...

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Incidence of the Factor V Leiden-mutation, Coagulation Inhibitor Deficiency, and Elevated Antiphospholipid-antibodies in Patients with Preeclampsia or HELLP–Syndrome

Cited by 67 publications

References 5 publications

Thrombophilia Is Significantly Associated With Severe Preeclampsia

Thrombophilia Is Significantly Associated With Severe Preeclampsia

Maternal Factor V Leiden Mutation Is Associated With HELLP Syndrome in Caucasian Women

Thrombophilia and pregnancy

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