The ACE D/D genotype is protective against the development of idiopathic deep vein thrombosis and pulmonary embolism

2003 ◽  
Vol 90 (11) ◽  
pp. 829-834 ◽  
Author(s):  
Marc Rodger ◽  
Melissa Forgie ◽  
Nicole Langlois ◽  
Linlea Armstrong ◽  
Nancy Carson ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Factor V Leiden ◽  
Primary Objective ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Venous Thromboembolic Disease ◽  
Vein Thrombosis ◽  
Venous Thromboembolic ◽  
Postoperative Thrombosis ◽  
Deep Vein

SummaryThe deletion/deletion (D/D) genotype of the angiotensin converting enzyme (ACE) has been purported to be a risk for postoperative thrombosis. This D/D genotype has not been evaluated as a risk factor for idiopathic venous thromboembolism (VTE).The primary objective of the present study was to determine whether the D/D genotype of ACE is independently associated with the occurrence of idiopathic venous thromboembolic disease.We prospectively enrolled consecutive patients with at least one objectively confirmed idiopathic VTE. Friends of cases were recruited as controls and matched to cases by sex, ethnicity, and age. Patients were tested for the ACE I/D polymorphism in addition to factor V Leiden, prothrombin G20210A, and factor VIII levels.Three hundred cases and 300 controls were enrolled; 97% were Caucasian. There were 148 females and 152 males in each group with a mean age of 56.21 years (SD=15.33). The ACE D/D genotype was present in 25.3% of cases and 32.4% of controls for an adjusted odds ratio of 0.66 (95% CI = 0.433 to 0.997). We can conclude that the ACE D/D genotype is protective against idiopathic venous thromboembolism.

Hereditary Thrombophilic Risk Factors and Venous Thromboembolism in Istanbul, Turkey: The Role in Different Clinical Manifestations of Venous Thromboembolism

2008 ◽  
Vol 14 (2) ◽  
pp. 168-173 ◽  
Author(s):  
Gulfer Okumus ◽  
Esen Kiyan ◽  
Orhan Arseven ◽  
Levent Tabak ◽  
Reyhan Diz-Kucukkaya ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Protein S ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Vein Thrombosis ◽  
Significant Difference ◽  
Deep Vein

The aim of this study was to investigate the hereditary thrombophilic risk factors in patients with venous thromboembolism (VTE) and whether these risk factors play a different role in patients with isolated pulmonary embolism (PE) as compared with patients with deep vein thrombosis (DVT) and patients with PE + DVT. The protein C (PC), protein S, antithrombin activities, homocysteine levels, and factor V Leiden (FVL) G1691A and prothrombin G20210A mutations were evaluated in 191 patients with VTE and 191 controls. The prevalence of FVL and PC deficiency were higher in patients ( P = .003 and P = .02, respectively). There was no significant difference for the other risk factors. The combination of thrombophilic risk factors was significantly higher in patients with DVT + PE as compared with patients with isolated PE or DVT ( P = .04). In conclusion, the most important hereditary risk factors for VTE in this study were the FVL mutation and PC deficiency.

scholarly journals Frequency of Thrombophilic Gene Mutations in Patients with Deep Vein Thrombosis and in Women with Recurrent Pregnancy Loss

2017 ◽  
Vol 12 (1) ◽  
pp. 162-166 ◽  
Author(s):  
Mahmoud Mohamed Elgari ◽  
Nadir Ahmed Ibrahim ◽  
Abdel Rahim Mahmoud Muddathir ◽  
Faris Mergheni Eltoom ◽  
Ibrahim M Ibrahim
Keyword(s):  
Deep Vein Thrombosis ◽  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Protein S ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Vein Thrombosis ◽  
Deep Vein

AbstractThrombophilia may be anticipated by single or combined hereditary defects in encoding genes factor V, Prothrombin, and MTHFR. The aim of this study was to determine the prevalence and associated risks of V Leiden (G1691A), Prothrombin (G20210A), and MTHFR (C677T) mutations in Saudi women with Deep Vein Thrombosis (DVT) and women with recurrent pregnancy loss (RPL). Protein C and protein S activity were measured to determine combined effects, if any. We examined 60 women with a history of DVT and 60 with RPL, extracted DNA from EDTA blood and determined three mutations by using multiplex PCR reactions followed by Strip Assay KIT. Pro C Global assay was used to determine the cutoff value [PCATNR = 0.80]. Protein C/S chromogenic assay was used to estimate protein C and S percentages. Frequency of Factor V Leiden G/A genotype in patients with DVT 7 (11.6%) had a significant association for DVT χ2 (OR = 5.1, P = 0.03). In women with RPL the three mutations did not show any significant association, levels of Protein C, protein S and PCAT-NR in patient groups not different from controls (P > 0.05). In conclusion, we recommend expanding on these data to provide larger-scale studies.

Comparison of the Risk of Pulmonary Embolism and Deep Vein Thrombosis in the Presence of Factor V Leiden or Prothrombin G20210A

2000 ◽  
Vol 83 (02) ◽  
pp. 352-354 ◽  
Author(s):  
J. M. Carreira ◽  
C. R. Alvarez ◽  
J.M. Rodríguez ◽  
M. V. Alvarez ◽  
E. Coto ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Vein Thrombosis ◽  
Deep Vein

Deep Vein Thrombosis during Pregnancy in Double Homozygous Carrier of Factor V Leiden and Prothrombin G20210A.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 1633-1633
Author(s):  
Ida Martinelli ◽  
Tullia Battaglioli ◽  
Angelo L. Beretta ◽  
Marina Bianchi ◽  
Pier Mannuccio Mannucci
Keyword(s):  
Deep Vein Thrombosis ◽  
Venous Thrombosis ◽  
Ultrasound Examination ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Her Family ◽  
Vein Thrombosis ◽  
Gestational Week ◽  
Deep Vein

Abstract Background. Factor V Leiden and prothrombin G20210A are gain-of-function mutations leading to an increased risk of venous thrombosis. They are the most common causes of thrombophilia, being present in their heterozygous form in 15–20% for factor V Leiden and 6–15% for prothrombin G20210A of unselected patients with venous thrombosis. The prevalence of each mutation in the Italian general population is 3%. Homozygous carriers for each mutation are rare, and double homozygous carriers, expected in 1 in 1.200.000 individuals, has never been described in the literature so far. Patient. On March 3, 2005 a 30-year-old woman was admitted to the Unit of Internal Medicine, Valduce Hospital, Como, for swell and pain in the left leg. She was pregnant at the 25th gestational week. Ultrasound examination diagnosed a deep vein thrombosis of the left external and common iliac veins. She had no symptoms of pulmonary embolism. She was given nadroparin 6000 UI b.i.d. (her weight was 63 kg), elastic stockings, and was discharged on March 9, 2005. Because of worsening of the swell in the left leg, she was re-admitted on March 12, 2005 and the ultrasound examination showed an extension of the deep vein thrombosis to the left femoral-popliteal venous system. The dose of nadroparin was increased to 7000 UI b.i.d. Thrombophilia screening revealed a double homozygosity for factor V Leiden and prothrombin G20210A. Her past personal history was negative for thrombosis, but she was never exposed to high risk situations (surgery, bone fractures, prolonged immobilization, oral contraceptive use, long-haul flights) apart from a previous pregnancy which ended in miscarriage at the 6th gestational week. On June 14, 2004 she had an uneventful vaginal delivery after two hours of labour, with the last nadroparin injection in the evening before, The newborn was a female who weighted 3500 g. Her family history was also negative for thrombosis in first- and second-degree relatives despite both parents were double heterozygotes for factor V Leiden and prothrombin G20210A and brother and sister were homozygotes for factor V Leiden and heterozygotes for prothrombin G20210A. Conclusions. The relative risk of venous thrombosis in double homozygous for factor V Leiden and prothrombin G20210A is unknown but is predicted to be extremely high. However, the patient described here had her first episode during a trigger situation, i.e., pregnancy, and severe thrombophilia seems to run an uneventful cause in her family in spite of repeated exposures to high risk situations. Hence, we shall advise the patient to stop oral anticoagulant therapy, started soon after delivery, one year after the thrombotic event.

Coinheritance of the HR2 Haplotype in the Factor V Gene Confers an Increased Risk of Venous Thromboembolism to Carriers of Factor V R506Q (Factor V Leiden)

Blood ◽  
1999 ◽  
Vol 94 (9) ◽  
pp. 3062-3066 ◽  
Author(s):  
E.M. Faioni ◽  
F. Franchi ◽  
P. Bucciarelli ◽  
M. Margaglione ◽  
V. De Stefano ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Family Members ◽  
Factor V Leiden ◽  
Protein S ◽  
Fold Increase ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Multicenter Cohort Study ◽  
Vein Thrombosis ◽  
Increased Risk

With the aim of establishing whether the HR2 haplotype in factor V affects the risk of venous thromboembolism, a retrospective multicenter cohort study was performed in 810 family members identified through 174 probands who suffered from at least 1 episode of deep vein thrombosis and/or pulmonary embolism and had an inherited defect associated with thrombophilia (antithrombin, protein C, or protein S deficiency; factor V R506Q or prothrombin G20210A). Fifty-eight percent (468/810) of the family members had an inherited defect and 10% (47/468) were symptomatic. The HR2 haplotype was found in association with factor V R506Q more frequently in family members with venous thromboembolism (18%) than in those without (8%). Double heterozygosity for factor V R506Q and HR2 conferred a 3- to 4-fold increase in the relative risk of venous thromboembolism compared with factor V R506Q alone. The median age at first event was lower when the 2 defects were associated (46v 52 years). No increase in risk of venous thromboembolism could be demonstrated when the HR2 haplotype was associated with inherited thrombophilic defects other than factor V R506Q. Because both factor V R506Q and the HR2 haplotype are very frequent, the effect of their coinheritance on the risk of venous thromboembolism might represent a clinically relevant issue, and screening for HR2 in carriers of factor V R506Q should be considered.

Uncertain thrombophilia markers

2016 ◽  
Vol 115 (01) ◽  
pp. 25-30 ◽  
Author(s):  
Massimo Franchini ◽  
Ida Martinelli ◽  
Pier Mannuccio Mannucci
Keyword(s):  
Protein C ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
High Plasma ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Dna Testing ◽  
Vein Thrombosis ◽  
Thrombophilia Screening ◽  
Deep Vein

SummaryThe development of venous thromboembolism (VTE), which includes deep-vein thrombosis and pulmonary embolism, may be associated with inherited or acquired risk factors that can be measured in plasma or DNA testing. The main inherited thrombophilias include the plasma deficiencies of the natural anticoagulants antithrombin, protein C and S; the gain-of-function mutations factor V Leiden and prothrombin G20210A; some dysfibrinogenaemias and high plasma levels of coagulation factor VIII. Besides these established biomarkers, which usually represent the first-level laboratory tests for thrombophilia screening, a number of additional abnormalities have been less consistently associated with an increased VTE risk. These uncertain causes of thrombophilias will be discussed in this narrative review, focusing on their clinical impact and the underlying pathogenetic mechanisms. Currently, there is insufficient ground to recommend their inclusion within the framework of conventional thrombophilia testing.

scholarly journals Risk Factor Profiles in Patients with Different Clinical Manifestations of Venous Thromboembolism: A Focus on the Factor V Leiden Mutation

1996 ◽  
Vol 76 (04) ◽  
pp. 510-513 ◽  
Author(s):  
Bert Manten ◽  
Rudi G J Westendorp ◽  
Ted Koster ◽  
Pieter H Reitsma ◽  
Frits R Rosendaal
Keyword(s):  
Pulmonary Embolism ◽  
Deep Vein Thrombosis ◽  
Venous Thromboembolism ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Thrombosis ◽  
Increased Risk ◽  
Deep Vein

Summary Background. Patients with venous thromboembolic disease may present with different clinical manifestations. Factor V Leiden mutation leading to resistance to activated protein C is associated with a sevenfold increased risk for presenting with deep-vein thrombosis. It is not yet established whether carriers of the mutation have a similarly increased risk for manifesting with pulmonary embolism. Methods. From an Anticoagulation Clinic monitoring coumarin therapy, a consecutive series of patients with a first thromboembolic event (objectively proven by current radiological methods) were enrolled. All patients were interviewed and blood was drawn for geno-typing. From the hospital charts and the personal interview, information was obtained on acquired risk factors and the signs and symptoms on hospital admission. Results. 45 patients presented with symptoms of pulmonary embolism only, 211 had only symptoms of deep-vein thrombosis whereas 23 had clinical features of both. In about half of the patients acquired risk factors for venous thromboembolism were present which did not differ between the three groups of patients. Recent surgery had been performed more often in patients presenting with pulmonary embolism than in other patients (33.3% vs. 18.5%, p <0,05). Factor V Leiden was present in 9% of the patients presenting with pulmonary embolism (relative risk: 3.3 95% Cl: 1.0-10.6) and 17% of the patients presenting with deep-vein thrombosis (relative risk: 6.9 95% Cl: 3.6-12.8). The prevalence of factor V Leiden was intermediate in patients with both clinical characteristics. Conclusion. These data suggest that patients with venous thromboembolism have different clinical presentation depending on the risk factor profile. Factor V Leiden may preferentially lead to manifest deep-vein thrombosis. Differences in structure of venous thrombi could underlie differences in embolic tendency.

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