Resistance to Activated Protein C, the Arg506 to Gin Mutation in the Factor V Gene, and Venous Thrombosis

Björn Dahlbäck

doi:10.1055/s-0038-1653860

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1995; 73(05): 739-742
DOI: 10.1055/s-0038-1653860

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Resistance to Activated Protein C, the Arg⁵⁰⁶ to Gin Mutation in the Factor V Gene, and Venous Thrombosis

Functional Tests and DNA-based Assays, Pros and Cons

Björn Dahlbäck

The Department of Clinical Chemistry, Lund University, Malmö General Hospital, Malmö, Sweden

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Referenzen

References
1 Goldhaber SZ. Epidemiology of pulmonary embolism and deep vein thrombosis. In: Haemostasis and Thrombosis 3 rd ed. Bloom AL, Forbes CD, Thomas DP, Tuddenhamm EG D. (eds) Churchill Livingstone; 1994. pp 1327-1333
2 Allaart CF, Briët E. Familial venous thrombophilia. In: Haemostasis and Thrombosis 3rd ed. Bloom AL, Forbes CD, Thomas DP, Tuddenham EG D. (eds) Churchill Livingstone; 1994. pp 1349-1360
3 Malm J, Laurell M, Nilsson IM, Dahlbäck B. Thromboembolic disease - critical evaluation of laboratory investigation. Thromb Haemost 1992; 68: 7-13
4 Heijboer H, Brandjes D, Büller HR, Sturk A, ten Cate JW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep- vein thrombosis. N Engl J Med 1990; 323: 1512-1516
5 Miletich JP, Prescott SM, White R, Majerus PW, Bovill EG. Inherited pre- disposion to thrombosis. Cell 1993; 72: 477-480
6 Tabemero MD, Tomas JF, Alberca I, Orfao A, Borrasca AL, Vicente V. Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis. Am J Hematol 1991; 36: 249-254
7 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 1993; 90: 1004-1008
8 Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-521
9 Koster T, Rosendaal FR, de Ronde F, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor response to activated protein C: Ixiden thrombophilia study. Lancet 1993; 342: 1503-1506
10 Halbmayer WM, Haushofer A, Schön R, Fischer M. The prevalence of poor anticoagulant response to activated protein C (APC resistance) among patients suffering from stroke or venous thrombosis and among healthy subjects. Blood Coagul Fibrinol 1994; 5: 51-57
11 Cadroy Y, Siè P, Boneu B. Frequency of a defective response to activated protein C in patients with a history of venous thrombosis. Blood 1994; 83: 2008-2009
12 Griffin JH, Evatt B, Wideman C, Fernandez JA. Anticoagulant protein C pathway defective in a majority of thrombophilie patients. Blood 1993; 82: 1989-1993
13 Bertina RM, Koeleman BP C, 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 1994; 369: 64-67
14 Greengard JS, Sun X, Xu X, Fernandez JA, Griffin JH, Evatt B. Activated protein C resistance caused by Arg506GIn mutation in factor V a. Lancet 1994; 343: 1362-1363
15 Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994; 343: 1536-1538
16 Voorberg J, Roelse J, Koopman R, Büller H, Berends F, ten Cate JW, Mertens K, van Mourik JA. Association of idiopathic thromboembolism with single point mutation at Arg506 of factor V. Lancet 1994; 343: 1535-1536
17 Zöller B, Svensson PJ, 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 1994; 94: 2521-2524
18 Majerus PW. Bad blood by mutation. Nature 1994; 369: 14-15
19 Sun X, Evatt B, Griffin JH. Blood coagulation factor Va abnormality associated with resistance to activated protein C in venous thrombophilia. Blood 1994; 83: 3120-3125
20 Dahlbäck B. Physiological anticoagulation. Inherited resistance to activated protein C and venous thromboembolism J Clin Invest 1994; 94: 923-927
21 Beauchamp NJ, Daly ME, Hampton KK, Cooper PC, Preston E, Peake IR. High prevalence of a mutation in the factor V gene within the UK population: Relationship to activated protein C resistance and familial thrombosis. Br J Haematol 1994; 88: 219-222
22 Koeleman BP C, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994; 84: 1031-1035
23 Zöller B, Bemtsdotter 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. 1995
24 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 1994; 344: 1453-1457
25 Hellgren M, Svensson PJ, Dahlback B. Resistance to activated protein C as a basis for venous thromboembolism associated with pregnancy and oral contraceptives. Am J Obstet Gynecol. 1995
26 Miletich JP, Sherman L, Broze Jr GJ. Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 1987; 317: 991-996
27 Zöller B, He X, Dahlback B. Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease. Thromb Haemost. 1995
28 Dahlbäck B. Inherited thrombophilia: Resistance to activated protein C as a pathogenic factor of venous thrombosis. Blood 1995; 85: 607-614
29 Rosén S, Johansson K, Lindberg K, Dahlbäck B. Multicenter evaluation of a kit for activated protein C resistance on various coagulation instruments using plasmas from healthy individuals. Thromb Haemost 1994; 72: 255-260
30 de Ronde H, Bertina RM. Laboratory diagnosis of APC-resistance: a critical evaluation of the test and the development of diagnostic criteria. Thromb Haemost 1994; 72: 880-886
31 Trossaërt M, Conard J, Horellou MH, Samama MM. Influence of storage conditions on activated protein C resistance assay. Thromb Haemost 1995; 73: 163-164
32 Faioni EM, Franchi F, Asti D, Sacchi E, Bemardi F, Mannucci PM. Resistance to activated protein C in nine thrombophilie families: Interference in a protein S functional assay. Thromb Haemost 1993; 70: 1067-1071
33 Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992; 31: 3777-3785