Inherited thrombotic disorders: An update

American Journal of Hematology

Volumn 54, Issue 1, 1997, Pages 53-60

  Florell, Scott R ^c   Rodgers, George M ^a,b,c,d  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c ARUP LABORATORIES   (United States)

^d UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

Activated protein C resistance; Factor V; Homocysteinemia

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5; HOMOCYSTEINE;

ARTERY THROMBOSIS; ARTICLE; BLOOD LEVEL; HUMAN; INHERITANCE; PRIORITY JOURNAL; RISK FACTOR; THROMBOSIS; VEIN THROMBOSIS;

ANTITHROMBIN III DEFICIENCY; BLOOD COAGULATION; FACTOR V; FEMALE; HOMOCYSTEINE; HUMANS; MALE; POINT MUTATION; PROTEIN C; PROTEIN S; THROMBOSIS;

EID: 0031012256     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199701)54:1<53::AID-AJH8>3.0.CO;2-3     Document Type: Article

References (53)

1. Dahlbäck B, Carlsson M, Svensson PJ: Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 90:1004-1008, 1993.
2. Griffin JH, Evatt B, Wideman C, Fernandez JA: Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 82:1989-1993, 1993.
3. den Heijer M, Blom HJ, Gerrits WBJ, Rosendaal FR, Haak HL, Wijermans PW, Bos GMJ: Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancer 345:882-885, 1995.
4. den Heijer M, Koster T, Blom HJ, Bos GMJ, Briët E, Reitsma PH, Vandenbroucke JP, Rosendaal FR: Hyperhomoysteinemia as a risk factor for deep venous thrombosis. N Engl J Med 334: 759-762, 1996.
5. Esmon CT: The protein C anticoagulant pathway. Arterioscler Thromb 12:135-145, 1992.
6. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64-67, 1994.
7. Cox MJ, Rees DC, Martinson JJ, Clegg JB: Evidence for a single origin of factor V Leiden. Br J Haematol 92:1022-1025, 1996.
8. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM: Venous trombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 342:1503-1506, 1993.
9. Samama MM, Trossaërt M, Horellou MH, Elalamy I, Conard J, Deschamps A: Risk of thrombosis in patients homozygous for factor V Leiden. Blood 86:4700-4702, 1995.
10. Vandenbroucke JP, Koster T, Briët E, Reitsma PH, Bertina RM, Rosendaal FR: Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet 344:1453-1457, 1994.
11. Dahlbäck B: Inherited thrombophilia: Resistance to activated protein C as a pathogenic risk factor of venous thromboembolism. Blood 85:607-614, 1995.
12. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH: High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 85:1504-1508, 1995.
13. Zöller B, Svensson PH, He X, Dahlbäck B: Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 94:2521-2524, 1994.
14. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP: Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 332:912-917, 1995.
15. 506-Gln mutation in factor V and risk of thrombosis during pregnancy. Br J Haematol 92:473-478, 1996.
16. Samaha M, Trossaert M, Conard J, Horellou MH, Elalamy I, Samama MM: Prevalence and patient profile in activated protein C resistance. Am J Clin Pathol 104:450-454, 1995.
17. Florell SR, Rodgers GM: Utilization of testing for activated protein C resistance in a reference laboratory. Am J Clin Pathol 106:248-252, 1996.
18. Beauchamp NJ, Daly ME, Hampton KK, Cooper PC, Preston FE, Peake IR: High prevalence of a mutation in the factor V gene within the U.K. population: Relationship to activated protein C resistance and familial thrombosis. Br J Haematol 88:219-222, 1994.
19. Rai R, Regan L, Hadley E, Dave M, Cohen H: Second-trimester pregnancy loss is associated with activated protein C resistance. Br J Haematol 92:489-490, 1996.
20. Rai RS, Regan L, Clifford K, Pickering W, Dave M, Mackie I, McNally T, Cohen H: Antiphospholipid antibodies and beta 2 glycoprotein-I in 500 women with recurrent miscarriage: Results of a comprehensive screening approach. Hum Reprod 10:2001-2005, 1995.
21. Gandrille S, Greengard JS, Alhenc-Gelas M, Juhan-Vague I, Abgrall JF, Jude B, Griffin JH, Aiach M, French network on behalf of INSERM: Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. Blood 86:219-224, 1995.
22. Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM: Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 84:1031-1035, 1994.
23. Zöller B, Berntsdotter A, Garcia de Frutos P, Dahlbäck B: Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 85:3518-3523, 1995.
24. Mudd SH, Levy HL, Skovby F: Disorders of transsulfuration. In Scriver CR, Beaudet AL, Sly WS, Valle DL (eds): "The Metabolic and Molecular Bases of Inherited Disease," Ed 7. New York: McGraw-Hill, 1995, pp 1279-1314.
25. Kluijtmans LEA, van den Heuvel LPWJ, Boers GHJ, Frosst P, Stevens EMB, van Oost BA, den Heijer M, Trijbels FJM, Rozen R, Blom HJ: Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 58:35-41, 1996.
26. Clarke R, Daly L, Robinson K, Naughten E, Cahalane S, Fowler B, Graham I: Hyperhomocysteinemia: An independent risk factor for vascular disease. N Engl J Med 324:1149-1155, 1991.
27. Rees MM, Rodgers GM: Homocysteinemia: Association of a metabolic disorder with vascular disease and thrombosis. Thromb Res 71:337-359, 1993.
28. Mudd SH, Skovby F, Levy HL, et al: The natural history of homocystinuria due to cystathione β-synthase deficiency. Am J Hum Genet 37:1-31, 1985.
29. Mandel H, Brenner B, Berant M, Rosenberg N, Lanir N, Jakobs C, Fowler B, Seligsohn U: Coexistence of hereditary homocystinuria and factor V Leiden-effect on thrombosis. N Engl J Med 334:763-768, 1996.
30. Morrison HI, Schaubel D, Desmeules M, Wigle DT: Serum folate and risk of fatal coronary heart disease. JAMA 275:1893-1896, 1996.
31. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG: A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: Probable benefits of increasing folic acid intakes. JAMA 274:1049-1057, 1995.
32. Franken DG, Boers GHJ, Blom HJ, Trijbels FJM, Kloppenborg PWC: Treatment of mild hyperhomocysteinemia in vascular disease patients. Arterioscler Thromb 14:465-470, 1994.
33. Rodgers GM, Chandler WL: Laboratory and clinical aspects of inherited thrombotic disorders. Am J Hematol 141:113-122, 1992.
34. Koster T, Rosendaal FR, Briet E, van der Meer FJM, Colly LP, Trienekens PH, Poort SR, Reitsma PH, Vandenbroucke JP: Protein C deficiency in a controlled series of unselected outpatients: An infrequent but clear risk for venous thrombosis (Leiden Thrombophilia Study). Blood 85:2756-2761, 1995.
35. Dizon-Townson D, Hutchison C, Silver R, Branch DW, Ward K: The factor V Leiden mutation which predisposes to thrombosis is not common in patients with antiphospholipid syndrome. Thromb Haemost 74:1029-1031, 1995.
36. Luddington R, Brown K, Baglin T: Effect of platelet phospholipid exposure on activated protein C resistance: Implications for thrombophilia screening. Br J Haematol 92:744-746, 1996.
37. Ubbink JB, Vermaak WJ, van der Merwe A, Becker PJ: The effect of blood sample aging and food consumption on plasma total homocysteine levels. Clin Chim Acta 207:119-128, 1992.
38. Ueland PM, Refsum H, Stabler SP, Malinow MR, Andersson A, Allen RH: Total homocysteine in plasma or serum: Methods and clinical applications. Clin Chem 39:1764-1779, 1993.
39. de Ronde H, Bertina RM: Laboratory diagnosis of APC-resistance: A critical evaluation of the test and the development of diagnostic criteria. Thromb Haemost 72:880-886, 1994.
40. Jorquera JI, Montoro JM, Fernandez MA, Aznar JA, Aznar J: Modified test for activated protein C resistance. Lancet 344:1162-1163, 1994.
41. Trossaert M, Conard J, Horellou MH, Elalamy I, Samama MM: The modified APC resistance lest in the presence of factor V deficient plasma can be used in patients without oral anticoagulant. Thromb Haemost 75:521-522, 1996.
42. Kraus M, Zander N, Fickenscher K: Coagulation assay with improved specificity to factor V mutants insensitive to activated protein C. Thromb Res 80:255-264, 1995.
43. Cumming AM, Tait RC, Fildes S, Hay CRM: Diagnosis of APC resistance during pregnancy. Br J Haematol 92:1026-1027, 1996.
44. Faioni EM, Franchi F, Asti D, et al: Resistance to activated protein C in nine thrombophilic families: Interference in a protein S functional assay. Thromb Haemost 70:1067-1071, 1993.
45. Baker R, Thom J, van Bockxmeer F: Diagnosis of activated protein C resistance (factor V Leiden). Lancet 344:1162, 1994.
46. van de Locht LTF, Kuypers AWHM, Verbruggen BW, Linssen PCM, Novakova IRO, Mensink EJBM: Semi-automated detection of the factor V mutation by allele specific amplification and capillary electrophoresis. Thromb Haemost 74:1276-1279, 1995.
47. Bellissimo DB, Kirschbaum NE, Foster PA: Improved method for factor V Leiden typing by PCR-SSP. Thromb Haemost 75:520, 1996.
48. Chen J, Herzenberg LA, Herzenberg LA: Heparin inhibits EcoR1 endonuclease cleavage of DNA at certain EcoR1 sites. Nucleic Acids Res 18:3255-3258, 1990.
49. Burkhardt J: Amplification of DNA from whole Mood. PCR Methods Appl 3:239-243, 1994.
50. Bostom AG, Jacques PF, Nadeau MR, Williams RR, Ellison RC, Selhub J: Post-methionine load hyperhomocysteinemia in persons with normal fasting total plasma homocysteine: Initial results from NHLBI Family Heart Study. Atherosclerosis 116:147-151, 1995.
51. Andersson A, Isaksson A, Brattstrom L, Hultberg B: Homocysteine and other thiols determined in plasma by HPLC and thiol-specific post column derivatization. Clin Chem 39:1590-1597, 1993.
52. Shipchandler MT, Moore EG: Rapid, fully automated measurement of plasma homocyst(e)ine with Abbott IMx analyzer. Clin Chem 41:991-994, 1995.
53. Kraus JP: Komrower Lecture. Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis 17:383-390, 1994.