Clinical features in 36 patients homozygous for the ARG 506 → GLN factor V mutation

Thrombosis and Haemostasis

Volumn 77, Issue 4, 1997, Pages 620-623

  Emmerich, Joseph ^a,l   Alhenc Gelas, Martine ^a   Aillaud, Marie Françoise ^b   Juhan Vague, Irène ^b   Jude, Brigitte ^c   Garcin, Jean Marie ^d   Dreyfus, Marie ^e   De Moerloose, Philippe ^f   Le Querrec, Agnès ^g   Priollet, Pascal ^h   Berruyer, Micheline ⁱ   Vallantin, Xavier ^j   Wolf, Martine ^k   Aiach, Martine ^a   Fiessinger, Jean Noël ^a  

^a HÔPITAL BROUSSAIS   (France)

^b TIMONE HOSPITAL   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d SERVICE D ENDOCRINOLOGIE   (France)

^e BICÊTRE HOSPITAL   (France)

^f GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^g CHU CÔTE DE NACRE   (France)

^h SAINT JOSEPH HOSPITAL   (France)

ⁱ LOUIS PRADEL HOSPITAL   (France)

^j CENTRE HOSPITALIER DE MEAUX   (France)

^k HÔPITAL ANTOINE BÉCLÈRE   (France)

^l BICHAT HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ADULT; AGED; ANTIPHOSPHOLIPID SYNDROME; ARTICLE; CANCER; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; HEART INFARCTION; HOMOZYGOTE; HUMAN; MALE; OBESITY; ORAL CONTRACEPTION; PRIORITY JOURNAL; PROTEIN S DEFICIENCY; PUERPERIUM; RISK FACTOR; SURGERY; VARICOSIS; VEIN THROMBOSIS;

EID: 0030890796     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1656022     Document Type: Article

References (36)

1. Dahlbäck B, Carlsson M, Svensson P. 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: 1004-8.
2. Dahlbäck B. Resistance to activated protein C, the Arg 506 to Gln mutation in the factor V gene and venous thrombosis. Funcional tests and DNA-based assays, pros and cons. Thromb Haemost 1995; 73: 739-42.
3. Bertina RM, Reitsma PH, Rosendaal FR, Vandenbrouke JP. Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis. Thromb Haemost 1995; 74: 449-53.
4. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133-4.
5. Kalafatis M, Bertina RM, Rand MD, Mann KG. Characterization of the molecular defect in factor V R506Q. J Biol Chem 1995; 270: 4053-7.
6. Heeb MJ, Kojima Y, Greengard JS, Griffin JH. Activated protein C resistance: Molecular mechanisms based on studies using purified Gln 506 factor V. Blood 1995; 85: 3405-11.
7. 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: 2521-4.
8. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85: 1504-8.
9. Seligsohn U, Berger A, Abend M, Rubin L, Attias D, Zivelin, Rapaport SI. Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med 1984; 310: 559-62.
10. Mahasandana C, Suvatte V, Marlar RA, Johnson MJ, Jacobson LJ, Hathaway WE. Neonatal purpura fulminans associated with homozygous protein S deficiency. Lancet 1990; 335: 61-2.
11. 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 1995; 332: 912-7.
12. Emmerich J, Poirier O, Evans A, Marques-Vidal P, Arveiler D, Luc G, Aiach M, Cambien F. Myocardial infarction, Arg 506 to Gln factor V mutation, and activated protein C resistance. Lancet 1995; 35: 321.
13. Emmerich J, Aiach M. Myocardial infarction and Arg 506 to Gln mutation. N Engl J Med 1995; 333: 880-1.
14. Holm J, Zöller B, Svensson PJ, Berntorp E, Erhardt L, Dahlbäck B. Myocardial infarction associated with homozygous resistance to activated protein C. Lancet 1994; 344: 952-3.
15. Hopmeier P, Krugluger W. Factor V Leiden and thrombophilia. N Engl J Med 1994; 332: 1381-2.
16. Miller S, Dykes D, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 1988; 16: 1215.
17. Gandrille S, Alhenc-Gelas M, Aiach M. A rapid screening method for the factor V Arg 506 to Gln mutation. Blood Coag Fibrinol 1995; 6: 245-9.
18. Greengard JS, Eichinger S, Griffin JH, Bauer KA. Variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg → Gln mutation in the gene for factor V. N Engl J Med 1994; 331: 1559-62.
19. Simioni P, Scudeller A, Girolami A. Factor V Leiden and thrombophilia. N Engl J Med 1994; 332: 1382.
20. Zöller B, He X, Dahlbäck B. Homozygous APC resistance combined with inherited protein S deficiency in a young boy with severe thrombotic disease. Thromb Haemost 1995; 73: 743-5.
21. Villa P, Aznar J, Jorquera J, Mira Y, Vaya A, Fernandez MA. Inherited homozygous resistance to activated protein C. Thromb Haemost 1995; 74: 794-5.
22. Samama M, Trossaërt M, Horellou MH, Elalamy I, Conard J, Deschamps A. Risk of thrombosis in patients homozygous for factor V Leiden. Blood 1995; 86: 4700-1.
23. Rintelen C, Mannhalter C, Ireland H, Lane DA, Knöbl P, Lechner K, Pabinger I. Oral contraceptives enhance the risk of clinical manifestation of venous thrombosis at a young age in females homozygous for factor V Leiden. Br J Haematol 1996; 93: 487-90.
24. 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 1995; 12: 3518-23.
25. 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 1994; 84: 1031-5.
26. Vandenbroucke JP, Koster T, Briët E, Bertina PH, Rosendaal FR. Increased risk of venous thrombosis in oral contraceptive users who are carriers of factor V Leiden mutation. Lancet 1994; 344: 1453-6.
27. De Stefano V, Mastrangelo S, Paciaroni K, Ireland H, Lane DA, Scirpa P, Bizzi B, Leone G. Thrombotic risk during pregnancy and puerperium in women with APC resistance. Effective subcutaneous heparin prophylaxis in a pregnant patient. Thromb Haemost 1995; 74: 7934.
28. Schulman S, Rhedin A-S, Lindmarker P, Carlsson A, Läfars G, Nicol P et al. A comparison of six weeks with six months of oral anticoagulants therapy after a first episode of venous thromboembolism. N Engl J Med 1995; 332: 1661-5.
29. Ridker PM, Miletich JP, Stampfer MJ, Goldhaber SZ, Lindpaintner K, Hennekens CH. Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. Circulation 1995; 92: 2800-2.
30. März W, Seyedewitz H, Winkelmann B, Chen M, Nauck M, Witt I. Mutation in coagulation factor V associated with resistance to activated protein C in patients with coronary artery disease. Lancet 1995; 345: 526-7.
31. Van Bockxmeeer FM, Baker RI, Taylor RR. Premature ischaemic heart disease and the gene for coagulation factor V. Nature Medicine 1995; 1: 185.
32. Kontula K, Ylikorkala A, Miettinen H, Vuorio A, Kauppinen-Mäkelin R, Hämäläinen L, Palomäki H, Kaste M. Arg 506 Gln factor V mutation (factor V Leiden) in patients with ischaemic cerebrovascular disease and survivors of myocardial infarction. Thromb Haemost 1995; 73: 558-60.
33. Samani NJ, Lodwick D, Martin D, Kimber P. Resistance to activated protein C and risk of premature myocardial infarction. Lancet 1994; 344: 1709-10.
34. Cushman M, Bhushan F, Bovill E, Tracy R. Plasma resistance to activated protein C in venous and arterial thrombosis. Thromb Haemost 1994; 72: 647.
35. Demarmels Biassiutti F, Merlo C, Sulzer I, Binder BR, Lämmle B. No association of APC resistance with myocardial infarction. Blood Coagul Fibrinol 1995; 6: 456-9.
36. Ardissino D, Peyvandi F, Merlini PA, Colombi E, Mannucci PM. Factor V (Arg 506 → Gln) mutation in young survivors of myocardial infarction. Thromb Haemost 1996; 75: 701-2.