scholarly journals Genetic Mutations in Turkish Population With Pulmonary Embolism and Deep Venous Thrombosis

2010 ◽  
Vol 17 (6) ◽  
pp. E87-E94 ◽  
Author(s):  
Elif Kupeli ◽  
Hasibe Verdi ◽  
Abdullah Simsek ◽  
Fatma Belgin Atac ◽  
Fusun Oner Eyuboglu
Keyword(s):  
Allele Frequency ◽  
Methylenetetrahydrofolate Reductase ◽  
Health Hazard ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Turkish Population ◽  
Factor V ◽  
G20210a Mutation ◽  
Significant Difference ◽  
Pai 1

Venous thromboembolism (VTE) is a universal health hazard. Inherited and acquired risk factors increase the risk of VTE. We evaluated the relationship between factor V (G1691A, A1090G, and A1299G), prothrombin (PT G20210A), methylenetetrahydrofolate reductase (MTHFR C677T) mutations, plasminogen activator inhibitor 1 (PAI-1 -675) polymorphism, and VTE in Turkish population. In all, 80 patients with VTE and 104 controls were included. Heterozygous factor V Leiden (FVL) mutation was significantly higher among patients ( P = .04) with allele frequency of 6.3% ( P = .01). Heterozygous PT G20210A mutation was also significantly higher among patients ( P = .001) with allele frequency of 6.9% ( P = .003). MTHFR 677TT genotype was significantly higher in patients ( P = .009) with allele frequency of 23.8% ( P = .005). No significant difference was found in FV A1090G and FV A1299G mutation rate as well as PAI-1 genotypes and their allele frequencies ( P > .05). Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. FV A1090G, FV A1299G mutations, and PAI-1 gene polymorphisms may not be a risk factor for VTE in Turkish population.

scholarly journals Evaluation of pai-1 polymorphisms in central and peripheral thromboembolies

2021 ◽  
Vol 38 (2) ◽  
pp. 167-171
Author(s):  
Özge Arıcı DÜZ ◽  
Oktay OLMUŞÇELİK ◽  
Ali İhsan GEMİCİ ◽  
Özlem SAATÇİ SANCAKTEPE
Keyword(s):  
Risk Factors ◽  
Methylenetetrahydrofolate Reductase ◽  
Vascular System ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Genetic Mutations ◽  
Factor V ◽  
Significant Difference ◽  
Medium Risk ◽  
Pai 1

Thromboembolism is a clinical finding that occurs due to thrombus; formed in the vascular system and has various etiological factors. It can be classified as central and peripheral thromboembolism. Our objective in this study is to explore genetic risk factors in central and peripheral thromboembolism and reveal the differences. 342 thromboembolism patients were retrospectively included to the study between January 2016 and December 2019. Demographic characteristics, risk factors for thromboembolism and genetic mutations in central and peripheral thromboembolism groups were overviewed. The genetic mutations evaluated in patients were Factor V Leiden G1691A, Factor V HR1299R, Factor II (Prothrombin) G20210A, MTHFR (Methylenetetrahydrofolate reductase) C677T, MTHFR A1298C, PAI 4G/5G. Within the scope of the study, genetic analyzes of 106 patients were reached and included in the study. Seventy-two central thromboembolism (69.8%), 34 (31.2%) peripheral thromboembolisms were detected. Sixty-three of the central thromboembolisms were from arterial and nine were from venous origin. There was no significant difference between age, gender and risk factors of central thromboembolism and peripheral thromboembolism patients (p˃0.05), but smoking was more common in central thromboembolism patients (p: 0.041). 4G/5G polymorphism was observed more frequently in patients with central thromboembolism (p: 0.039). Thromboembolism is a multifactorial disease, PAI-1 4G/5G polymorphism is a medium risk factor for thromboembolism. We conclude that PAI-1 4G/5G polymorphism is more frequent in central thromboembolism than peripheral thromboembolism and its evaluation can give more information about the thromboembolic risk analyze.

The Association Between Parameters of Erythrocytes Morphology and Thrombophilia-Related Mutations

2021 ◽  
Vol 16 ◽  
Author(s):  
Ozlem Oz ◽  
Ataman Gonel
Keyword(s):  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Cross Sectional ◽  
Factor V Leiden Mutation ◽  
Erythrocyte Morphology ◽  
Mthfr A1298c ◽  
G20210a Mutation ◽  
History Of

Background: Alterations in erythrocyte morphology parameters have been identified and associated with hematological disorders and other chronic and cardiovascular diseases. Erythrocytes are abundant in thrombus content. Their hemoglobin density and differences in the ratio of macrocytic and microcytic cells may be associated with hypercoagulopathy in those with a history of thrombosis. Objective: This cross-sectional study aimed to investigate the relationship between hemogram parameters and thrombophilia genetic parameters. Method: A total of 55 patients whose thrombophilia panel was reviewed due to the diagnosis of thrombosis were included in the study. %MIC, %MAC, %HPO, %HPR and all hemogram parameters were measured using Abbott Alinity HQ. Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, Factor V Leiden G169A and PAI-1 4G/5G mutations were studied using Real Time-PCR. Results: The MTHFR C677T mutation was detected in 58.2% of the patients. The Factor V Leiden mutation was detected in 5.5% of the patients. The MTHFR A1298C mutation was detected in 58.2%, The PAI mutation was detected in 74.5%, and the Factor 13 mutation was detected in 29% of the patients. Prothrombin G20210A mutation was not detected in any of the patients. Red blood cell (RBC) and Hct values were higher in Factor 13 mutant group; the Hgb and Htc values were higher in the MTHFR C677T mutant group. Conclusion: The MTHFR C677T and Factor 13 mutations may be associated with high Hct and RBC, Hgb, and Htc values, respectively and coagulation tendency in patients with a history of thrombosis.

scholarly journals Molecular Analysis of Factor V Leiden, Factor V Hong Kong, Factor II G20210A, Methylenetetrahydrofolate Reductase C677T, and A1298C Mutations Related to Turkish Thrombosis Patients

2007 ◽  
Vol 13 (4) ◽  
pp. 435-438 ◽  
Author(s):  
Bilgen Dölek ◽  
Serpil Eraslan ◽  
Sevim Eroğlu ◽  
Belgin Eroglu Kesim ◽  
Turgut Ulutin ◽  
...  
Keyword(s):  
Hong Kong ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Enzyme Analysis ◽  
Restriction Enzyme Analysis ◽  
Factor V ◽  
Conformation Analysis ◽  
Factor Ii ◽  
Fv Leiden

Inherited gene disorders related to the hemostatic system have been documented as risk factors for thrombosis. The roles of factor V Hong Kong (FV Hong Kong), factor V Leiden (FV Leiden), factor II G20210A (FII G20210A), methylenetetrahydrofolate reductase (MTHFR) C677T, and MTHFR A1298C mutations in Turkish patients with thrombosis (270 patients) compared with healthy controls (114 subjects) were evaluated. Polymerase chain reaction—based restriction enzyme analysis was carried out to screen these mutations, and single-strand conformation analysis was established to identify variations using the primers selected for restriction enzyme analysis studies. As a result, a significant relationship was determined among FV Leiden, FII G20210A, and thrombosis. The FV Hong Kong mutation was observed in only 2 patients with pulmonary vein thrombosis who are FV Leiden/FV Hong Kong compound heterozygous for FV gene. MTHFR C677T and A1298C were equally distributed in the patient group compared with the control group. All named mutations were also identified with single-strand conformation analysis, but a new variant/polymorphism during studies was not found. Because some inherited abnormalities are associated with thromboembolic disorders, determining the mutations and gene-to-gene interactions in patients with thrombosis history has a great impact on diagnosis and treatment of these diseases.

scholarly journals Impact of thrombophilia and waist circumference on the risk of venousthromboembolism

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
T B Kondratieva ◽  
L V Popova ◽  
T V Khlevchuk ◽  
M Z Kanevskaya ◽  
M B Aksenova ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Waist Circumference ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Factor V ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
Inherited Thrombophilia ◽  
Pai 1

Abstract Background Venous thromboembolism (VTE), which includes deep vein thrombosis (DVT) and pulmonary embolism (PE) represents a major health problem. In the general population, the absolute risk of any kind of VTE is 0.1%–0.2% per year, and it increases with age. VTE is an important and preventable cause of morbidity and mortality, with almost a third of survivors experiencing long term effects. Obesity is well-known risk factor of VTE. The extent of the effects of obesity on VTE depends not only on total body fat, but also on the distribution of adipose tissue (e.g., central obesity) and the interplay among risk factors for VTE, such as genetic mutations, and other risk factors. Thrombophilia, venous thromboembolism, obesity, waist circumference Purpose The aim of this study is to investigate the impact of waist circumference on the risk of venous thromboembolism Methodology The study involved 68 patients with VTE (33 females and 34 males, mean age 56.8 years ±15.3) and 84 patients without VTE (38 males and 46 females, 44.4 years±18.6). From 2015 to 2017, data have been collected from records of patients admitted to department of internal medicine. All subjects were recruited to the study during their stay in the hospital. The reasons for hospitalization were: acute event of DVT or PE for the main group, the absence of acute event or history of VTE for the control group. DVT was diagnosed by ultrasonic Doppler examination, and PE was confirmed by intravenous radiocontrast computed tomography. Anthropometric measures were performed with subjects wearing short-sleeved garments and no shoes; waist circumference was measured in centimeters at the umbilical line. For all patients genetic testing for inherited thrombophilia – Factor V Leiden G1691A, Prothrombin G20210A, MTHFR C677T polymorphism, PAI-1 (SERPIN1) 4G/5G polymorphism – was performed by real-time PCR technique. Results Factor V Leiden G1691A increase the risk of VTE in 2.11 (CI: 1.79–2.48), p=0.049, prothrombin G20210A in 3.21 (CI: 1.66–6.211), p=0.049. MTHFR C677T polymorphism, PAI-1 (SERPIN1) 4G/5G polymorphism also increase the risk of VTE, but it was no significant. Study have shown that waist circumference >80 cm increase the risk of VTE in 3.19 (CI: 1.35–7.58), p=0.019. Combination of inherited thrombophilia (Factor V Leiden G1691A, Prothrombin G20210A, MTHFR C677T polymorphism, PAI-1 (SERPIN1) 4G/5G polymorphism) and waist circumference >80 cm increase the risk of VTE in 3.51 (CI: 1.76–7.04), p<0.001. Conclusion Previous results of our work indicate influence of waist circumference >80 cm on the risk of VTE, especially risk of thrombosis is higher in patients with combination inherited thrombophilia and waist circumference >80 cm. FUNDunding Acknowledgement Type of funding sources: None.

scholarly journals A Case of Budd-Chiari Syndrome Associated with Erythrocytosis and Homozygous MTHFR C677T Mutation

2021 ◽  
pp. 24-30
Author(s):  
Leilane Bentes De Sousa ◽  
Dayane Ferreira Aguiar ◽  
José Pereira de Moura Neto
Keyword(s):  
Case Report ◽  
Randomized Clinical Trials ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Hepatic Veins ◽  
Factor V ◽  
Budd Chiari Syndrome ◽  
Venous Flow ◽  
Chiari Syndrome

An erythrocytosis describes an increased erythrocyte, subclassified into relative due to hemoconcentration or absolute by an increase in erythrocyte mass, defined as an increase in hemoglobin concentration and/or hematocrit in the peripheral blood above the sex-specific normal range. Budd-Chiari Syndrome (BCS) is related to an obstruction of the hepatic venous flow leading to occlusion of hepatic veins and their tributaries. Genetic and environmental factors can interact for risk determination of venous thromboembolism. The risk associated with SNP 677C>T and 1298A>C of the methylenetetrahydrofolate reductase (MTHFR), 1691G>A of the Factor V Leiden (FVL) and 20210G>A of the prothrombin (FII) genes were investigated in many studies involving thrombosis. This case report describes the clinical, hematological and biochemistry data about a 48-year-old woman diagnosed with PV and a BCS associated, also carrying 677C>T SNP in homozygosity. The patient started therapy with phlebotomy, hydroxyurea and oral anticoagulant. Currently, she presents a better clinical and laboratory condition with normalized values of hematological and platelet indices. This case report aims to contribute with evidence of related comorbidities and makes it possible to report that genetic factors are involved since the patient's mother had already been diagnosed with absolute erythrocytosis in 2016 at 78 years old. For this main result, we understand that it is clear that a family genetic study can reveal clinical modifying factors in these patients, as there are different clinical severities in the family. Furthermore, we believe in the need for a greater number of randomized clinical trials to add better evidence to complement an ideal therapeutic approach in these patients.

Factor V Leiden (G1691A), the Prothrombin 3’-Untranslated Region Variant (G20210A) and Thermolabile Methylenetetrahydrofolate Reductase (C677T): A Single Genetic Test Genotypes all Three Loci – Determination of Frequencies in the S. Wales Population of the UK

1998 ◽  
Vol 79 (05) ◽  
pp. 949-954 ◽  
Author(s):  
D. J. Bowen ◽  
S. Bowley ◽  
M. John ◽  
P. W. Collins
Keyword(s):  
Confidence Interval ◽  
Allele Frequency ◽  
Methylenetetrahydrofolate Reductase ◽  
Genetic Diagnosis ◽  
Factor V Leiden ◽  
Heteroduplex Analysis ◽  
Factor V ◽  
Nucleotide Substitutions ◽  
Single Polymerase Chain Reaction ◽  
Fv Leiden

SummarySimultaneous genetic diagnosis of factor V (FV) Leiden (G1691A), the prothrombin variant (G20210A) and the thermolabile methylenetetrahydrofolate reductase (MTHFR) variant (C677T) has been achieved using multiplex heteroduplex analysis. All three loci are amplified in a single polymerase chain reaction (PCR) containing test DNA and three heteroduplex generators, respectively detecting the three nucleotide substitutions. After PCR, the products are analysed directly without further manipulation and the resulting heteroduplex profiles permit straightforward interpretation of the respective genotypes. The multiplex test has been used to assess the prevalence and allele frequency of each of the three nucleotide substitutions in 300 individuals (150 males and 150 females) from the local (S. Wales) population. A prevalence of 8% and an allele frequency of 0.040 ± 0.015 (95% confidence interval) was obtained for FV Leiden; the prothrombin variant showed a prevalence of 1% and an allele frequency of 0.007 ± 0.006 (95% confidence interval); the MTHFR mutation showed a prevalence of 60% and an allele frequency of 0.377 ± 0.039 (95% confidence interval). This method is applicable to investigation of large cohorts of patients with arterial or venous thrombotic disease.

4g/5g Prevalence in 223 Patients with Thrombosis and in 162 Healthy Controls, from the Centre Region of Portugal.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4057-4057
Author(s):  
Rosa Maia ◽  
Emilia Cortesao ◽  
Catarina Geraldes ◽  
Luis Simoes ◽  
Carla Simoes ◽  
...  
Keyword(s):  
Protein C ◽  
Antithrombin Iii ◽  
Factor V Leiden ◽  
Protein S ◽  
Mthfr C677t ◽  
Insertion Polymorphism ◽  
Factor V ◽  
Centre Region ◽  
History Of ◽  
Pai 1

Abstract A deletion/insertion polymorphism (4G or 5G) in the promoter of the PAI-1 gene has been suggested to be involved in regulation of the synthesis of the inhibitor, the 4G allele being associated with enhanced gene expression, and therefore related with thrombosis. In the present work we studied the prevalence of 4G/5G polymorphism in 223 unrelated patients with history of objectively confirmed thromboembolism, and in 162 healthy unrelated controls, both groups natural from all centre regions of Portugal. In this normal cohort, the prevalence of 4G/4G is 23%, 4G/5G is 38% and 5G/5G is 39%; in the affected population is, respectively, 47%, 21.5% and 30%, which means that 4G/4G is twice more frequent in the patients with thrombosis. When we relate the age of the first thrombosis episodes in the three groups, we find no significative difference, as the respective media is 36.8; 38.6 and 35.5 years in the 4G/4G, 4G/5G and 5G/5G group, respectively. This data suggest that this polymorphism by itself, even in homozygosity, is not associated with earlier thrombosis. In our patients, we studied the presence of Lupus Anticoagulant, Factor V Leiden, Factor IIG20210A, MTHFR C677T, and also Antithrombin III, Protein S and Protein C levels. We analyse the prevalence of the three mutations in patients with DVP, PTE, ischemic and venous CVA and we only find a significative difference in the 4G/4G group: 46.2% patients with DVP and 48.2% patients with PTE (23% in normal cohort). In conclusion, in the centre region of Portugal, the prevalence of 4G/4G is 23%, 4G/5G is 38% and 5G/5G is 39%; in our cohort of unrelated patients the only significative difference is in the 4G/4G group (47%); this variation maintain in the DVP and PTE group. We did not find difference at the age of the first thrombotic episode, in the three groups.

Inherited and Acquired Thrombophilic Abnormalities in Patients Aged <20 Years with Bcr-Abl Negative Chronic Myeloproliferative Disorders

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5249-5249
Author(s):  
Fiorina Giona ◽  
Angela Amendola ◽  
Giovanna Palumbo ◽  
Patrizia Pignoloni ◽  
Antonio Chistolini ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Normal Population ◽  
Mutation Screening ◽  
Factor V Leiden ◽  
Myeloproliferative Disorders ◽  
Factor V ◽  
Functional Protein ◽  
Chronic Myeloproliferative Disorders ◽  
G20210a Mutation ◽  
Ratio Range

Abstract Several associated thrombophilic abnormalities have been reported in adults with Bcr-Abl negative chronic myeloproliferative disorders (CMD), mostly in essential thrombocythemia (ET) and polycythemia vera (PV), while only sporadic data are available in younger patients (pts). In order to identify coagulation abnormalities in very young pts with a diagnosis of CMD, we evaluated different thrombophilic parameters in CMD pts aged &lt;20 years (yrs) at the time of diagnosis. Lupus anticoagulant (KCT and dRVVT), functional protein C (PC), free protein S (PS) antigen, functional antithrombin (AT), homocysteine (HCY), factor V Leiden (FVL) mutation, factor II (FII)G20210A mutation and methylentethrahydrofolate reductase (MTHFR)C677T polymorphisms were investigated. Thirty-four CMD pts (18 M and 16 F) with a median age at diagnosis of 168/12 yrs (range: 3mo-1911/12 yrs), followed at the study Institution, were tested. According to the criteria of the PVSG or WHO, 17 pts had a diagnosis of ET, 8 of PV and 9 of hereditary thrombocythemia (HT). Among the ET cohort, 3 pts were treated with aspirin alone and 14 received cytoreductive therapy. Among the HT cohort, 2 patients received cytoreductive therapy. PV pts were phlebotomized to maintain a hematocrit (Ht) level &lt;50%. The median interval between diagnosis and the time of the study was 8.8 yrs (range: 1 mo-24 yrs). No thrombotic events occurred. Five females with ET or HT became pregnant and had 5 children, 1 of them being affected by HT. At the time of the study, the median platelet (plt) count was 649 × 109/L (range 325–1,712) for ET pts and 1,000 × 109/L (range 602–2,142) for HT pts; the median Ht level for pts with PV was 53% (range 52–60.5%). The KCT ratio (n.v. &lt;1.31) was increased in 5/33 (15%) pts, 4 of them with PV (1 with high dRVVT ratio). Functional PC and free PS levels were decreased in 4/34 (11.7%) pts tested. An increased HCY level was found in 3/8 pts (37.5%) with PV. Of the 34 pts investigated for FVL, FIIG20210A mutations and MTHFRC677T polymorphisms, 1 ET pt was heterozygous for both the FVL and MTHFRC677T mutations and one ET pt showed an isolated FII G20210A mutation. Screening for the C677T polymorphisms in the MTHFR gene revealed that 22/34 pts (64.7%) were heterozygous, 9 of them affected by ET and 8 by HT. In our CMD population of children and young adults, the frequencies of heterozygosis of FIIG20210A mutations (4/34 pts = 11.7%) and MTHFRC677T polymorphisms (64.7%) were higher than those reported in the normal population (about 2.5% and 45%, respectively). Our data demonstrate that an accurate thrombophilic screening is important in young CMD pts in order to better manage this particular category of patients. Coagulation parameter All pts ET pts HT pts PV pts Median KCT ratio (range) No. of pts with increased ratio 0.89 (0.26–1.49) 5/33 (15%) 0.86 (0.26–1.21) 0/16 1.22 (0.77–1.49)&gt; 1/9 (11%) pan lang=”EN-US”&gt;1.31 (0.9–1.41)4/8 (50%) Median dRVVT ratio (range) No. of pts with increased ratio 0.64 (0.26–1.15) 1/34 (2.9%) 0.78 (0.26–0.99) 0/17 0.75 (0.54–0.98) 0/9 0.72 (0.55–1.6) 1/8 (12.5%) Median PC level (range) No. of pts with reduced levels 97 (58–137) 4/34 (11.7%) 97 (62–137) 0/17 (0%) 91 (62–133) 2/9 (22%) 101 (58–116) 2/8 (25%) Median PS level (range) No. of pts with reduced levels 85 (48–113) 4/34 (11.7%) 82 (49–113) 1/17 (5,8%) 84 (63–95) 1/9 (11%) 106 (60–112) 2/8 (25%) Median antithrombin level (range) No. of pts with reduced values 100 (87–197) 0/34 100 (88–197) 0/17 99 (88–197) 0/9 97 (87–100) 0/8 Median HCY level (range) No. of pts with increased levels 9.20(4.6–34.06)/span&gt; 3/34 (8,8%) d&gt; 8.7 (4.6–14.1) 0/17 5.7(4.6–13.5) 0/9 9.8 (4.5–34.06) 3/8 (37.5%) FVL (allele frequency) mutations 1/34 (2.9%) 1/17 (5.8%) 0/9 0/8 FIIG20210A mutations (allele frequency) 4/34 (11.7%) 1/17 (5.8%) 3/9 (33%) 0/8 MTHFRC677T polymorphisms (heterozygosis) 22/34 (64.7%) 9/17 (52.9%) 8/9 (89%) 5/8 (62.5%)

Circulating microparticles in carriers of prothrombin G20210A mutation

2014 ◽  
Vol 112 (09) ◽  
pp. 432-437 ◽  
Author(s):  
Elena Campello ◽  
Luca Spiezia ◽  
Claudia Radu ◽  
Sabrina Gavasso ◽  
Patrizia Zerbinati ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Annexin V ◽  
Prothrombin G20210a ◽  
Factor V ◽  
G20210a Mutation ◽  
Significant Difference ◽  
Circulating Microparticles ◽  
Thrombotic Complications ◽  
Prothrombin Gene Mutation ◽  
And Gender

SummaryFactor V Leiden (FVL) and prothrombin gene mutation G20210A (PTM) are the two most common genetic polymorphisms known to predispose carriers to venous thromboembolism (VTE). A recent study in FVL carriers showed that circulating levels of microparticles (MP) may contribute to their thrombogenic profile. To further elucidate the prothrombotic state linked to genetic thrombophilia, we extended this study to carriers of PTM. The plasma level of annexin V-MP, endothelial- MP (EMP), platelet-MP (PMP), tissue factor-bearing MP (TF+) and the MP procoagulant activity (PPL) was measured in 124 carriers of PTM (105 heterozygous and 19 homozygous) and in 120 age- and gender-matched healthy individuals. Heterozygous and homozygous carriers of PTM showed significantly increased levels of annexin V-MP (2930 [1440–4646] MP/μl and 3064 [2412–4906] MP/μl, respectively) and significantly shorter PPL clotting time (54 [46–67] sec and 55 [46–64] sec) compared to controls (1728 [782–2122] MP/μl and 71 [61–75] sec, respectively; p<0.01). Similarly, heterozygous and homozygous subjects presented with significantly higher levels of EMP, PMP and TF+ than controls (p<0.05). PTM carriers with a VTE history had significantly higher MP numbers and activity than controls. No significant difference was seen between carriers with and without a VTE history. We conclude that the higher levels of circulating MP found in PTM carriers may play a role in the development of VTE possibly by increasing thrombin generation. Further studies are needed to better define the role of MP as triggering factors for the thrombotic complications characterizing mild genetic thrombophilic defects.

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