Atherothrombosis in 2 vascular territories in a young woman: Importance of thrombophilia testing

Clinical and Applied Thrombosis/Hemostasis

Volumn 17, Issue 1, 2011, Pages 108-113

  Jurcut, Ruxandra ^a   Florian, Anca ^a   Deleanu, Dan ^a   Arsenescu, Ileana ^a   Jurcut, Ciprian ^b   Coriu, Daniel ^c   Ginghina, Carmen ^a  

^a Prof Dr CC Iliescu Institute of Emergency for Cardiovascular Diseases   (Romania)

^b Central Military Hospital Bucharest   (Romania)

^c FUNDENI CLINICAL INSTITUTE   (Romania)

Author keywords

acute myocardial infarction; acute peripheral ischemia; hyperhomocysteinemia; prothrombin mutation

Indexed keywords

ACETYLSALICYLIC ACID; ACETYLSALICYLIC ACID PLUS CLOPIDOGREL; ALDOSTERONE ANTAGONIST; ANTICOAGULANT AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BLOOD CLOTTING FACTOR 5; CHOLESTEROL; CYANOCOBALAMIN; DESOGESTREL; ETHINYLESTRADIOL; FOLIC ACID; HIGH DENSITY LIPOPROTEIN; HOMOCYSTEINE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN; PROTHROMBIN; PYRIDOXINE;

ADULT; ANGIOCARDIOGRAPHY; ANTICOAGULANT THERAPY; ANTIPHOSPHOLIPID SYNDROME; ANTITHROMBIN III DEFICIENCY; ARTICLE; ATHEROSCLEROTIC PLAQUE; BODY TEMPERATURE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CONTRACEPTION; CORONARY ARTERY; CORONARY ARTERY ATHEROSCLEROSIS; CORONARY ARTERY OBSTRUCTION; CYANOSIS; DRUG MEGADOSE; ELECTROCARDIOGRAPHY; EXERCISE; EXERCISE TEST; FAMILY PLANNING; FEMALE; GENE MUTATION; GENETIC SCREENING; HEART AUSCULTATION; HEART LEFT VENTRICLE ENDDIASTOLIC PRESSURE; HEART LEFT VENTRICLE FUNCTION; HEART RATE; HEART SEPTUM DEFECT; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE TACHYCARDIA; HEART VENTRICULOGRAPHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; HYPERHOMOCYSTEINEMIA; INTERNATIONAL NORMALIZED RATIO; LEFT ANTERIOR DESCENDING CORONARY ARTERY; LEG ISCHEMIA; LIFESTYLE MODIFICATION; LIPOPROTEIN BLOOD LEVEL; LOW FAT DIET; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIMAL DRUG DOSE; PARESIS; PARESTHESIA; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; SCREENING TEST; SILENT MYOCARDIAL INFARCTION; SINUS RHYTHM; STROKE; SURGICAL THROMBECTOMY; THROMBOPHILIA; TRANSESOPHAGEAL ECHOCARDIOGRAPHY; TRANSTHORACIC ECHOCARDIOGRAPHY;

ADULT; ANTICOAGULANTS; CONTRACEPTIVES, ORAL; CORONARY ARTERY DISEASE; FEMALE; HUMANS; HYPERCHOLESTEROLEMIA; HYPERHOMOCYSTEINEMIA; ISCHEMIA; LOWER EXTREMITY; MYOCARDIAL INFARCTION; THROMBOPHILIA; THROMBOSIS; VITAMIN B COMPLEX;

EID: 78651385199     PISSN: 10760296     EISSN: None     Source Type: Journal    
DOI: 10.1177/1076029609357740     Document Type: Article

References (42)

1. Hankey GJ, Eikelboom JW Homocysteine and vascular disease. Lancet. 1999 ; 354 (9176). 407-413.
2. Ueland PM, Refsum H., Stabler SP, Malinow MR, Andersson A., Allen RH Total homocysteine in plasma or serum: methods and clinical applications. Clin Chem. 1993 ; 39 (9). 1764-1779.
3. Selhub J., Jacques PF, Wilson PW, Rush D., Rosenberg IH Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. JAMA. 1993 ; 270 (22). 2693-2698.
4. Klerk M., Verhoef P., Clarke R., Blom HJ, Kok FJ, Schouten EG for the MTHFR Studies Collaboration Group. MTHFR 677C/T polymorphism and risk of coronary heart disease: a meta-analysis. JAMA. 2002 ; 288 (16). 2023-2031.
5. Kang SS, Zhou J., Wong PWK, Kowalisyn J., Strokosch G. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet. 1988 ; 43 (4). 414-421.
6. Frosst P., Blom HJ, Milos R., et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995 ; 10 (1). 111-113.
7. Christen WG, Ajani UA, Glynn RJ, Hennekens CH Blood levels of homocysteine and increased risks of cardiovascular disease: causal or casual ? Arch Intern Med. 2000 ; 160 (4). 422-434.
8. Ma J., Stampfer MJ, Hennekens CH, et al. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation. 1996 ; 94 (10). 2410-2416.
9. Van Bockxmeer FM, Mamotte CD, Vasikaran SD, Taylor RR Methylenetetrahydrofolate reductase gene and coronary artery disease. Circulation. 1997 ; 95 (1). 21-23.
10. Deloughery TG, Evans A., Sadeghi A., et al. Common mutation in methylenetetrahydrofolate reductase: correlation with homocysteine metabolism and late-onset vascular disease. Circulation. 1996 ; 94 (12). 3074-3078.
11. Antoniades C., Antonopoulos A., Tousoulis D., Marinou K., Stefanadis C. Homocysteine and coronary atherosclerosis: from folate fortification to the recent clinical trials. Eur Heart J. 2009 ; 30 (1). 6-15.
12. Mohan IV, Jagroop IA, Mikhailidis DP, Stansby GP Homocysteine activates platelets in vitro. Clin Appl Thromb Hemost. 2008 ; 14 (1). 8-18.
13. Bienvenu T., Ankri A., Chadefaux B., Montalescot G., Kamoun P. Elevated total plasma homocysteine, a risk factor for thrombosis. Relation to coagulation and fibrinolytic parameters. Thromb Res. 1993 ; 70 (2). 123-129.
14. Jurcu R., Pop I., Coriu D., et al. Compound heterozygosity for the C677T and A1298C mutations of the MTHFR gene in a case of hyperhomocysteinemia with recurrent deep thrombosis at young age. Rom J Intern Med. 2008 ; 46 (3). 255-259.
15. Refsum H., Smith AD, Ueland PM, et al. Facts and recommendations about total homocysteine determinations: an expert opinion. Clin Chem. 2004 ; 50 (1). 3-32.
16. Homocysteine Lowering Trialists ' Collaboration. Dose-dependent effects of folic acid on blood concentrations of homocysteine: a meta-analysis of the randomized trials. Am J Clin Nutr. 2005 ; 82 (4). 806-812.
17. Malinow MR, Bostom AG, Krauss RM Homocysteine, diet, and cardiovascular diseases: a statement for healthcare professionals from the Nutrition Committee, American Heart Association. Circulation. 1999 ; 99 (1). 178-182.
18. McCully KS Homocysteine and vascular disease. Nat Med. 1996 ; 2 (4). 386-389.
19. den Heijer M., Willems HP, Blom HJ, et al. Homocysteine lowering by B vitamins and the secondary prevention of deep vein thrombosis and pulmonary embolism: a randomized, placebo-controlled, double-blind trial. Blood. 2007 ; 109 (1). 139-144.
20. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996 ; 88 (10). 3698-3703.
21. Souto JC, Coll I., Llobet D., et al. The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population. Thromb Haemost. 1998 ; 80 (3). 366-369.
22. Weischer M., Juul K., Zacho J., et al. Prothrombin and risk of venous thromboembolism, ischemic heart disease and ischemic cerebrovascular disease in the general population. Atherosclerosis. 2009 ;in press; doi:10.1016/j. atherosclerosis.2009.05.006.
23. Rosendaal FR, Siscovick DS, Schwartz SM, Psaty BM, Raghunathan TE, Vos HL A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood. 1997 ; 90 (5). 1747-1750.
24. Franco RF, Trip MD, ten Cate H., et al. The 20210 G-A mutation in the 39-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease. Br J Haematol. 1999 ; 104 (1). 50-54.
25. Eikelboom JW, Baker RI, Parsons R., Taylor RR, van Bockxmeer FM No association between the 20210 G/A prothrombin gene mutation and premature coronary artery disease. Thromb Haemost. 1998 ; 80 (6). 878-880.
26. Corral J., Gonzalez-Conejero R., Lozano ML, Rivera J., Heras I., Vicente V. The venous thrombosis risk factor 20210 A allele of the prothrombin gene is not a major risk factor for arterial thrombotic disease. Br J Haematol. 1997 ; 99 (2). 304-307.
27. Ferraresi P., Marchetti G., Legnani C., et al. The heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease. Arterioscler Thromb Vasc Biol. 1997 ; 17 (11). 2418-2422.
28. De Moerloose P., Boehlen F. Inherited thrombophilia in arterial disease: a selective review. Semin Hematol. 2007 ; 44 (2). 106-113.
29. Brown K., Luddinton R., Baglin T. Effect of the MTHFRC677T variant on risk of venous thromboembolism: interaction with factor V Leiden and prothrombin (F2G20210A) mutations. Br J Haematol. 1998 ; 103 (1). 42-44.
30. Kim RJ, Becker RC Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. Am Heart J. 2003 ; 146 (6). 948-957.
31. Botto N., Mariani M., Manfredi S., Andreassi MG Case report of myocardial infarction in young patient with a parental history of premature cardiovascular death: combination of prothrombotic gene mutations. Int J Cardiol. 2008 ; 130 (1). e17 - e19.
32. Ozbek M., Oztürk MA, Ureten K., et al. Severe arterial thrombophilia associated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome. Clin Appl Thromb Hemost. 2008 ; 14 (3). 369-371.
33. Kabukcu S., Keskin N., Keskin A., Atalay E. The frequency of factor V Leiden and concomitance of factor V Leiden with prothrombin G20210A mutation and methylene tetrahydrofolate reductase C677T gene mutation in healthy population of Denizli, Aegean region of Turkey. Clin Appl Thromb Hemost. 2007 ; 13 (2). 166-171.
34. Rosing J., Middeldorp S., Curvers J., et al. Low-dose oral contraceptives and acquired resistance to activated protein C: a randomised cross-over study. Lancet. 1999 ; 354 (9195). 2036-2040.
35. van Vliet HA, Bertina RM, Dahm AE, et al. Different effects of oral contraceptives containing different progestogens on protein S and tissue factor pathway inhibitor. J Thromb Haemost. 2008 ; 6 (2). 346-351.
36. Kemmeren JM, Algra A., Meijers JC, Bouma BN, Grobbee DE Effects of second and third generation oral contraceptives and their respective progestagens on the coagulation system in the absence or presence of the factor V Leiden mutation. Thromb Haemost. 2002 ; 87 (2). 199-205.
37. Jick H., Jick SS, Gurewich V., Myers MW, Vasilakis C. Risk of idiopathic cardiovascular death and nonfatal venous thromboembolism in women using oral contraceptives with differing progestagen components. Lancet. 1995 ; 346 (8990). 1589-1593.
38. Kemmeren JM, Tanis BC, van den Bosch AAJ, et al. Risk of Arterial Thrombosis in Relation to Oral Contraceptives (RATIO) Study. Oral contraceptives and the risk of ischemic stroke. Stroke. 2002 ; 33 (5). 1202-1208.
39. Tanis BC, van den Bosch AAJ, Kemmeren JM, et al. Oral contraceptives and the risk of myocardial infarction. N Engl J Med. 2001 ; 345 (25). 1787-1793.
40. Baillargeon JP, McClish DK, Essah PA, Nestler JE Association between the current use of low-dose oral contraceptives and cardiovascular arterial disease: a meta-analysis. J Clin Endocrinol Metab. 2005 ; 90 (7). 3863-3870.
41. Ray JG, Laskin CA Folic acid and homocyst(e)ine metabolic defects and the risk of placental abruption, pre-eclampsia and spontaneous pregnancy loss: a systematic review. Placenta. 1999 ; 20 (7). 519-529.
42. Greer IA Thrombosis in pregnancy: maternal and fetal issues. Lancet. 1999 ; 353 (9160). 1258-1265.