scholarly journals Acquired Activated Protein C Resistance, Thrombophilia and Adverse Pregnancy Outcomes: A Study Performed in an Irish Cohort of Pregnant Women

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Sara Sedano-Balbás ◽  
Mark Lyons ◽  
Brendan Cleary ◽  
Margaret Murray ◽  
Geraldine Gaffney ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Protein C ◽  
Methylenetetrahydrofolate Reductase ◽  
Activated Protein C ◽  
Mthfr C677t ◽  
Adverse Outcomes ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Activated Protein C Resistance ◽  
Adverse Pregnancy

The combination of thrombophilia and pregnancy increases the risk of thrombosis and the potential for adverse outcomes during pregnancy. The most significant common inherited risk factor for thrombophilia is activated protein C resistance (APCR), a poor anticoagulant response of APC in haemostasis, which is mainly caused by an inherited single-nucleotide polymorphism (SNP), factor V G1691A (FV Leiden) (FVL), referred as inherited APCR. Changes in the levels of coagulation factors: FV, FVIII, and FIX, and anticoagulant factors: protein S (PS) and protein C (PC) can alter APC function causing acquired APCR. Prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T are prothrombotic SNPs which in association with APCR can also increase the risk of thrombosis amongst Caucasians. In this study, a correlation between an acquired APCR phenotype and increased levels of factors V, VIII, and IX was demonstrated. Thrombophilic mutations amongst our acquired APCR pregnant women cohort are relatively common but do not appear to exert a severe undue adverse effect on pregnancy.

Lack of Association between Inherited Thrombophilic Risk Factors and Idiopathic Sudden Sensorineural Hearing Loss in Italian Patients

2006 ◽  
Vol 115 (3) ◽  
pp. 195-200 ◽  
Author(s):  
Gabriella Cadoni ◽  
Simona Scipione ◽  
Bianca Rocca ◽  
Stefania Agostino ◽  
Carmelo La Greca ◽  
...  
Keyword(s):  
Risk Factors ◽  
Protein C ◽  
Antithrombin Iii ◽  
Activated Protein C ◽  
Protein S ◽  
Mthfr C677t ◽  
Sudden Sensorineural Hearing Loss ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Activated Protein C Resistance

Objectives: We investigated the presence of congenital thrombophilic risk factors in a population of consecutive Italian patients affected by idiopathic sudden sensorineural hearing loss (SSNHL). Methods: We investigated 48 patients with idiopathic SSNHL for the presence of congenital thrombophilic risk factors. The factor V Leiden G1691A, the prothrombin G20210A allele, and methylenetetrahydrofolate reductase (MTHFR) C677T genotypes were investigated. Allele frequencies and genotype distribution of all factors found in patients were compared to those of 48 healthy subjects of the same ethnic background by χ2 and odds-ratio analysis. Odds ratios and 95% confidence intervals were calculated for allele and genotype frequencies of all thrombophilia variants. Statistical significance was accepted with a p value of less than .05. We also performed the following blood tests: hemacytometric analysis including platelet count, prothrombin time, activated partial thromboplastin time, fibrinogen, erythrocyte sedimentation rate, C-reactive protein, protein S, protein C, antithrombin III, and activated protein C resistance. Results: In our series, we did not find an association between SSNHL and abnormal levels of antithrombin III, protein C, protein S, D-dimer, or fibrinogen; activated protein C resistance; or factor V G1691 A, prothrombin G20210A, or MTHFR C677T mutations. Conclusions: At present, the few studies regarding genetic polymorphisms of congenital thrombophilic factors in SSNHL are not conclusive. According to our data, factor V G1691A, prothrombin G20210A, and MTHFR C677T variants should be not considered risk factors for SSNHL. Further large prospective studies are needed to provide currently lacking information and to improve our knowledge in the field before we recommend the determination of genetic polymorphism in SSNHL as routine practice.

Maternal thrombophilias are not associated with early pregnancy loss

2004 ◽  
Vol 91 (02) ◽  
pp. 290-295 ◽  
Author(s):  
Michael Paidas ◽  
Edmund Funai ◽  
Edward Kuczynski ◽  
Charles Lockwood ◽  
Henry Roqué
Keyword(s):  
Protein C ◽  
Activated Protein C ◽  
Fetal Loss ◽  
Factor V Leiden ◽  
Anticardiolipin Antibodies ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Increased Risk ◽  
Pregnancy Wastage ◽  
Adverse Pregnancy

SummaryWe investigated the association between inherited and acquired maternal thrombophilias and adverse pregnancy events. A cohort of 491 patients with a history of adverse pregnancy outcomes was evaluated for activated protein C resistance, factor V Leiden and prothrombin G20210A mutations, hyperhomocysteinemia, deficiencies of antithrombin, protein C and S and both anticardiolipin antibodies and lupus anticoagulants. The study had an 80% power to detect a 15% difference in the prevalence of thrombophilia for 1st trimester loss. In our high-risk cohort the presence of 1 maternal thrombophilia or more than one thrombophilia were found to be protective of recurrent losses at < 10 weeks (1 thrombophilia: OR: 0.55, 95% CI: 0.33–0.92; >1 thrombophilia: OR: 0.48, 95%CI:0.29–0.78). In contrast, the presence of maternal thrombophilia(s) was modestly associated with an increased risk of losses ≥ 10 weeks (1 thrombophilia: OR:1.76, 95%CI: 1.05–2.94, >1 thrombophilia: OR:1.66, 95%CI:1.03–2.68). Women who experienced only euploid losses were not more likely to have an identified thrombophilia than women who experienced only aneuploid losses (OR 1.03; 0.38–2.75). The presence of maternal thrombophilia was associated with an increased risk of fetal loss after 14 weeks, fetal growth restriction, abruption and preeclampsia. There was a significant “dose-dependent” increase in the risk of abruption (OR:3.60, 95%CI: 1.43–9.09) and preeclampsia (OR:3.21, 95%CI:1.20–8.58). In conclusion, these data indicate maternal thrombophilias are not associated with pregnancy wastage prior to 10 weeks of gestation.

scholarly journals Lack of Association between Recurrent Pregnancy Loss and Inherited Thrombophilia in a Group of Colombian Patients

Thrombosis ◽  
2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Henry Cardona ◽  
Serguei A. Castañeda ◽  
Wálter Cardona Maya ◽  
Leonor Alvarez ◽  
Joaquín Gómez ◽  
...  
Keyword(s):  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Methylenetetrahydrofolate Reductase ◽  
Statistical Significance ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Activated Protein C Resistance ◽  
Inherited Thrombophilia

Studies have shown an association between recurrent pregnancy loss and inherited thrombophilia in Caucasian populations, but there is insufficient knowledge concerning triethnic populations such as the Colombian. The aim of this study was to evaluate whether inherited thrombophilia is associated with recurrent pregnancy loss. Methods. We conducted a case-control study of 93 patients with recurrent pregnancy loss (cases) and 206 healthy multiparous women (controls) in a Colombian subpopulation. Three single nucleotide polymorphisms (SNPs) markers of the inherited thrombophilias factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T were genotyped by PCR-RFLP. Activated protein C resistance and plasma levels of antithrombin, protein C, and protein S were also measured. Results. The frequency of thrombophilia-associated SNPs, activated protein C resistance, and anticoagulant protein deficiencies, was low overall, except for the methylenetetrahydrofolate reductase C677T SNP. The differences between patients and controls had no statistical significance. Conclusion. Our study confirms the low prevalence of inherited thrombophilias in non-Caucasian populations and it is unlikely that the tested thrombophilias play a role in the pathogenesis of recurrent pregnancy loss in this Colombian population.

Cohort Study of Thrombophilia and Thombotics Events in Recipients of Liver Transplantation and Their Respective Donors.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4093-4093
Author(s):  
Carmen Ribera ◽  
Rosa Ayala ◽  
Rosalia Bustelos ◽  
Angeles M. Martin ◽  
Joaquin Martinez-Lopez ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Clinical Data ◽  
Protein C ◽  
Activated Protein C ◽  
Protein S ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Genetic Mutations ◽  
Factor V ◽  
Fv Leiden

Abstract Background: The prothrombin G20210A (FII G20210A) and Factor V (FV) Leiden polymorphisms are the most common hereditary risk factors for venous thromboembolism. Little is known about the role of the thombophilic factors on the risk of thromboembolic events (TE) in recipients of orthotopic liver transplantation (OLT). This study aims to evaluate the influence of the recipients’ genetic mutations (FII G20210A, FV Leiden and methilene tetrahydrofolate reductase (MTHFR) C677T homozygosity) on the incidence of TE before OLT; and those acquired with the grafted liver (FII G20210A, FV Leiden-resistance to activated protein C, MTHFR C677T homozygosity and other trombophilic factors) on the risk of TE after the OLT. Patients and Methods: Between January 2001 and July 2006, 378 OLT, including 23 retransplantations, were performed in our institution. Clinical data were available on 341 patients. In 255 recipients, genetic and functional tests were performed after OLT and included FII G20210A, FV Leiden and MTHFR C677T, PT, APTT, fibrinogen, antithrombin, protein C, protein S, resistance to activated protein C, FVIII activity, anticoagulant lupus study, anticardiolipin antibodies and homocystein. Samples for FII G20210A, FV Leiden and MTHFR C677T were obtained for 155 donor grafts (112 deceased and 39 live donors). The genetic mutations were detected by real-time PCR technology. Results: From 341 patients with clinical data available, 42 suffered TE before OLT and 30 patients after OLT. Among the 255 recipients whom genetic studies were performed, 10 carriers of FV Leiden (2.7%), 16 carriers of FII G2010A09 ((3.9%) and 31 homozygous MTHFR C677T (12.2 %) were found. The incidence of TE before transplantation was similar for carriers and noncarriers of the genetic trombophilic alterations (FV Leiden: 1.5% vs 2.1%; FII G20210A: 0% vs 4.9%; MTHFR C677T: 13% vs 11%). Among the donors we found 1 carrier of FV Leiden (0.6%), 4 carriers of FII G20210A (2.2%), and 24 homozygous MTHFR C677T (9.4%). We did not find significant differences in the incidence of TE after OLT in recipients of a grafted liver with or without genetic thrombophilic alterations (FV Leiden: 0% vs 0.8%; FII G20210A: 0% vs 2.5%; MTHFR C677T: 7.7% vs 7.5%). A correlation between high FVIII levels and post OLT thrombosis was found (p: 0.007). Other phenotypic studies after transplantation were similar on patients with and without thrombosis. Conclusion: The incidence of TE before transplantation is similar for carriers and noncarriers of FII G20210A, FV Leiden and homozygous MTHFR C677T. The presence of FII G20210A, FV Leiden and homozygous MTHFR C677T on the donors did not increased the risk of TE after OLT. This study adds information about an unclear aspect of thrombophilia in OLT. Further studies are required to clarify the reasons for the association of high levels of FVIII with vascular thrombosis after OLT. This study was funded by FMM 2004/009.

Coagulation Factor V Leiden Mutation Was Detected in the Patients with Activated Protein C Resistance in Thailand

1998 ◽  
Vol 80 (08) ◽  
pp. 344-345 ◽  
Author(s):  
Pasra Arnutti ◽  
Motofumi Hiyoshi ◽  
Wichai Prayoonwiwat ◽  
Oytip Nathalang ◽  
Chamaiporn Suwanasophon ◽  
...  
Keyword(s):  
Protein C ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
Factor V ◽  
Activated Protein C Resistance ◽  
Factor V Leiden Mutation ◽  
Coagulation Factor V

The Diagnosis and Clinical Manifestations of Activated Protein C Resistance: A Case Report and Review of the Literature

1996 ◽  
Vol 1 (4) ◽  
pp. 275-280 ◽  
Author(s):  
Howard Daniel Hoerl ◽  
Aldo Tabares ◽  
Kandice Kottke-Marchant
Keyword(s):  
Case Report ◽  
Protein C ◽  
Activated Protein C ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Laboratory Diagnosis ◽  
Factor V ◽  
Review Of The Literature ◽  
Activated Protein C Resistance ◽  
Genetic Anomaly

Activated protein C resistance (APCR) is a recently discovered, medically important cause of venous thrombosis. More than 95% of cases are due to factor V Leiden (FVL), a mutated form of factor V that is resistant to degradation by activated protein C. The prevalence of this disorder, which is inherited in an autosomal dominant fashion, is approximately 5% among asymptomatic people of European heritage. In addition, 20 to 60% of patient cohorts with previous thrombosis demonstrate APCR, making it the most common known genetic cause of abnormal thrombophilia. Current laboratory techniques available for diagnosis include functional assays, such as the APC ratio, as well as DNA-based tests that detect the specific genetic anomaly responsible for FVL. A case report is presented, along with a review of the literature highlighting epidemiology, pathogenesis, clinical features and methods for laboratory diagnosis.

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