Does thrombophilia testing help in the clinical management of patients

作者: Saskia Middeldorp , Astrid van Hylckama Vlieg

DOI: 10.1111/J.1365-2141.2008.07339.X

关键词: ThrombophiliaSurgeryMass screeningVenous thrombosisThrombosisPulmonary embolismCoagulopathyInternal medicineFactor V LeidenProthrombin G20210AMedicine

摘要: Thrombophilia can be identified in about half of all patients presenting with venous thrombosis. Testing has increased tremendously for various indications, but whether the results such tests help clinical management not been settled. Here, we review most commonly tested thrombophilic abnormalities, i.e. protein C, S, and antithrombin deficiencies, F5 R506Q (factor V Leiden) F2 G20210A (prothrombin G20210A) mutations, elevated levels coagulation factor VIII, their association arterial thrombosis as well pregnancy complications. We conclude that testing hereditary thrombophilia generally does alter or Because only serves limited purpose this should performed on a routine basis.

参考文章(183)
C Rintelen, I Pabinger, P Knöbl, K Lechner, Ch Mannhatter, Probability of recurrence of thrombosis in patients with and without factor V Leiden. Thrombosis and Haemostasis. ,vol. 75, pp. 229- 232 ,(1996) , 10.1055/S-0038-1650249
M Laffan, J O'Donnell, Elevated plasma factor VIII levels--a novel risk factor for venous thromboembolism. Clinical Laboratory. ,vol. 47, pp. 1- 6 ,(2001)
Z. Bodó, Jutta Plotho, W. Streif, Ch. Male, G. Bernert, L. Rauter, G. Ebetsberger, K. Kaltenbrunner, P. Kurnik, A. Lischka, F. Paky, R. Ploier, G. Höfler, Christine Mannhalter, W. Muntean, W. Zenz, Factor V Leiden and Prothrombin Gene G 20210 A Variant in Children with Ischemic Stroke Thrombosis and Haemostasis. ,vol. 80, pp. 763- 766 ,(1998) , 10.1055/S-0037-1615355
B. P. C. Koeleman, R. M. Bertina, P. H. Reitsma, Familial thrombophilia: a complex genetic disorder Seminars in Hematology. ,vol. 34, pp. 256- 264 ,(1997)
M Makris, F E Preston, N J Beauchamp, P C Cooper, M E Daly, K K Hampton, P Bayliss, I R Peake, G J Miller, Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thrombosis and Haemostasis. ,vol. 78, pp. 1426- 1429 ,(1997) , 10.1055/S-0038-1665427
Angela Pistorio, Giovanni Barosi, Monia Marchetti, Extended anticoagulation for prevention of recurrent venous thromboembolism in carriers of factor V Leiden--cost-effectiveness analysis. Thrombosis and Haemostasis. ,vol. 84, pp. 752- 757 ,(2000) , 10.1055/S-0037-1614110
Paolo Simioni, Paolo Prandoni, Anthonie W. A. Lensing, Davide Manfrin, Daniela Tormene, Sabrina Gavasso, Bruno Girolami, Corrado Sardella, Martin Prins, Antonio Girolami, Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep-vein thrombosis. Blood. ,vol. 96, pp. 3329- 3333 ,(2000) , 10.1182/BLOOD.V96.10.3329
Bernd Jan Sanson, Philip W Friedrich, Paolo Simioni, Sandra Zanardi, Menno V Huisman, Antonio Girolami, Jan Wouter ten Cate, Martin H Prins, The risk of abortion and stillbirth in antithrombin-, protein C-, and protein S-deficient women. Thrombosis and Haemostasis. ,vol. 75, pp. 387- 388 ,(1996) , 10.1055/S-0038-1650282
Sabine Eichinger, Ingrid Pabinger, Andreas Stümpfien, Mirko Hirschl, Christine Bialonczyk, Barbara Schneider, Christine Mannhalter, Erich Minar, Klaus Lechner, Paul A Kyrle, The Risk of Recurrent Venous Thromboembolism in Patients with and without Factor V Leiden Thrombosis and Haemostasis. ,vol. 77, pp. 624- 628 ,(1997) , 10.1055/S-0038-1656023
J Conard, M H Horellou, P Van Dreden, T Lecompte, M Samama, Thrombosis and pregnancy in congenital deficiencies in AT III, protein C or protein S: study of 78 women. Thrombosis and Haemostasis. ,vol. 63, pp. 319- 320 ,(1990) , 10.1055/S-0038-1645218