Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency

Annals of Pharmacotherapy

Volumn 50, Issue 9, 2016, Pages 758-767

  Bauer, Kenneth A ^a   Nguyen Cao, Tam M ^b   Spears, Jeffrey B ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b Grifols   (United States)

Author keywords

antithrombin; congenital antithrombin deficiency; hereditary antithrombin deficiency; inherited antithrombin deficiency; treatment management

Indexed keywords

ANTICOAGULANT AGENT; FIBRINOLYTIC AGENT;

ANTICOAGULANT THERAPY; ANTITHROMBIN DEFICIENCY; FAMILY HISTORY; HUMAN; LIFESTYLE; MAJOR SURGERY; PATIENT CARE; PREGNANCY; PRIORITY JOURNAL; PUERPERIUM; REVIEW; TREATMENT DURATION; VENOUS THROMBOEMBOLISM; ANTITHROMBIN III DEFICIENCY; BLOOD; BLOOD CLOTTING; COMPLICATION; DRUG EFFECTS; FEMALE; HEMORRHAGE; MALE; PERSONALIZED MEDICINE; RISK FACTOR;

ANTICOAGULANTS; ANTITHROMBIN III DEFICIENCY; BLOOD COAGULATION; FEMALE; FIBRINOLYTIC AGENTS; HEMORRHAGE; HUMANS; MALE; PRECISION MEDICINE; PREGNANCY; RISK FACTORS; VENOUS THROMBOEMBOLISM;

EID: 84982236560     PISSN: 10600280     EISSN: 15426270     Source Type: Journal    
DOI: 10.1177/1060028016651276     Document Type: Review

References (78)

1. O.EgebergThrombophilia caused by inheritable deficiency of blood antithrombin. Scand J Clin Lab Invest. 1965;17:92.
2. A.H.JamesB.A.KonkleK.A.BauerPrevention and treatment of venous thromboembolism in pregnancy in patients with hereditary antithrombin deficiency. Int J Womens Health. 2013;5:233-241.
3. M.M.PatnaikS.MollInherited antithrombin deficiency: a review. Haemophilia. 2008;14:1229-1239.
4. H.AgersoD.F.BrophyH.Pelzer. Recombinant human factor VIIa (rFVIIa) cleared principally by antithrombin following intravenous administration in hemophilia patients. J Thromb Haemost. 2011;9:333-338.
5. K.A.TanakaJ.H.LevyRegulation of thrombin activity— pharmacologic and structural aspects. Hematol Oncol Clin North Am. 2007;21:33-50.
6. T.BaystonD.LaneAntithrombin Mutation Database. London, UK: Imperial College of London; 2013.
7. P.FoyS.MollThrombophilia: 2009 update. Curr Treat Options Cardiovasc Med. 2009;11:114-128.
8. R.J.KimR.C.BeckerAssociation 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;146:948-957.
9. B.K.MahmoodiJ.L.BrouwerN.J.VeegerJ.van der MeerHereditary deficiency of protein C or protein S confers increased risk of arterial thromboembolic events at a young age: results from a large family cohort study. Circulation. 2008;118:1659-1667.
10. S.B.DeitelzweigB.H.JohnsonJ.LinK.L.SchulmanPrevalence of clinical venous thromboembolism in the USA: current trends and future projections. Am J Hematol. 2011;86:217-220.
11. Centers for Disease Control and Prevention. Venous thromboembolism in adult hospitalizations—United States, 2007-2009. MMWR Morb Mortal Wkly Rep. 2012;61:401-404.
12. M.N.Di MinnoP.AmbrosinoW.AgenoF.RosendaalG.Di MinnoF.DentaliNatural anticoagulants deficiency and the risk of venous thromboembolism: a meta-analysis of observational studies. Thromb Res. 2015;135:923-932.
13. R.C.TaitI.D.WalkerD.J.Perry. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol. 1994;87:106-112.
14. E.ThalerK.LechnerAntithrombin III deficiency and thromboembolism. Clin Haematol. 1981;10:369-390.
15. P.S.WellsM.A.BlajchmanP.Henderson. Prevalence of antithrombin deficiency in healthy blood donors: a cross-sectional study. Am J Hematol. 1994;45:321-324.
16. T.KosterF.R.RosendaalE.Briet. Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden thrombophilia study). Blood. 1995;85:2756-2761.
17. R.C.TaitI.D.WalkerP.H.Reitsma. Prevalence of protein C deficiency in the healthy population. Thromb Haemost. 1995;73:87-93.
18. J.MiletichL.ShermanG.BrozeJr.Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med. 1987;317:991-996.
19. A.C.DykesI.D.WalkerA.D.McMahonS.I.IslamR.C.TaitA study of protein S antigen levels in 3788 healthy volunteers: influence of age, sex and hormone use, and estimate for prevalence of deficiency state. Br J Haematol. 2001;113:636-641.
20. D.C.ReesThe population genetics of factor V Leiden (Arg506gln). Br J Haematol. 1996;95:579-586.
21. T.KosterF.R.RosendaalH.de RondeE.BrietJ.P.VandenbrouckeR.M.BertinaVenous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet. 1993;342:1503-1506.
22. R.M.BertinaB.P.KoelemanT.Koster. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-67.
23. P.M.RidkerC.H.HennekensK.LindpaintnerM.J.StampferP.R.EisenbergJ.P.MiletichMutation 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;332:912-917.
24. F.R.RosendaalC.J.DoggenA.Zivelin. Geographic distribution of the 20210 G to a prothrombin variant. Thromb Haemost. 1998;79:706-708.
25. S.R.PoortF.R.RosendaalP.H.ReitsmaR.M.BertinaA 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;88:3698-3703.
26. P.M.RidkerC.H.HennekensJ.P.MiletichG20210a mutation in prothrombin gene and risk of myocardial infarction, stroke, and venous thrombosis in a large cohort of US men. Circulation. 1999;99:999-1004.
27. A.CoppolaA.TufanoA.M.CerboneG.Di MinnoInherited thrombophilia: implications for prevention and treatment of venous thromboembolism. Semin Thromb Hemost. 2009;35:683-694.
28. G.YoungM.AlbisettiM.Bonduel. Impact of inherited thrombophilia on venous thromboembolism in children: a systematic review and meta-analysis of observational studies. Circulation. 2008;118:1373-1382.
29. I.MartinelliP.M.MannucciV.De Stefano. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood. 1998;92:2353-2358.
30. P.BucciarelliF.R.RosendaalA.Tripodi. Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance: a multicenter collaborative family study. Arterioscler Thromb Vasc Biol. 1999;19:1026-1033.
31. P.SimioniB.J.SansonP.Prandoni. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost. 1999;81:198-202.
32. G.FinazziR.CacciaT.BarbuiDifferent prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: review of 404 cases. Thromb Haemost. 1987;58:1094.
33. C.OrlandoO.HeylenW.LissensK.JochmansAntithrombin heparin binding site deficiency: a challenging diagnosis of a not so benign thrombophilia. Thromb Res. 2015;135:1179-1185.
34. R.Virchow. Phlogose und Thrombose in Gefasssystem. In:, ed. Gesammelte Abhandlungen Zur Wissenschaftlichen Medizin. Frankfurt, Germany: Von Meidinger Sohn; 1856:458-636.
35. J.F.CarboneR.RampersadPrenatal screening for thrombophilias: indications and controversies. Clin Lab Med. 2010;30:747-760.
36. V.De StefanoG.LeoneS.Mastrangelo. Thrombosis during pregnancy and surgery in patients with congenital deficiency of antithrombin III, protein C, protein S. Thromb Haemost. 1994;71:799-800.
37. P.IlonczaiZ.OlahA.Selmeczi. Management and outcome of pregnancies in women with antithrombin deficiency: a single-center experience and review of literature. Blood Coagul Fibrinolysis. 2015;26:798-804.
38. G.H.GuyattE.A.AklM.Crowther. Executive summary: antithrombotic therapy and prevention of thrombosis, 9th ed: American College of Chest Physicians evidence-based clinical practice guidelines. Chest. 2012;141:7S-47S.
39. N.RogenhoferM.K.BohlmannP.Beuter-Winkler. Prevention, management and extent of adverse pregnancy outcomes in women with hereditary antithrombin deficiency. Ann Hematol. 2014;93:385-392.
40. E.KfouryA.TaherS.SaghiehZ.K.OtrockR.MahfouzThe impact of inherited thrombophilia on surgery: a factor to consider before transplantation?Mol Biol Rep. 2009;36:1041-1051.
41. W.R.FlinnM.D.McDanielJ.S.YaoV.A.FaheyD.GreenAntithrombin III deficiency as a reflection of dynamic protein metabolism in patients undergoing vascular reconstruction. J Vasc Surg. 1984;1:888-895.
42. E.A.SalvatiA.G.Della ValleG.H.Westrich. The John Charnley Award: heritable thrombophilia and development of thromboembolic disease after total hip arthroplasty. Clin Orthop Relat Res. 2005;441:40-55.
43. B.J.PiperP.T.FarrellHereditary antithrombin III deficiency and neuraxial anaesthesia. Anaesth Intensive Care. 2015;43:782-785.
44. D.W.OverbyG.P.KohnM.A.Cahan. Prevalence of thrombophilias in patients presenting for bariatric surgery. Obes Surg. 2009;19:1278-1285.
45. H.KitaharaM.KudoK.OkamotoY.InabaA.SasakiH.ShimizuManagement of right atrial hemangioma in a patient with antithrombin deficiency. Ann Thorac Surg. 2015;99:e53-e55.
46. P.ClarkI.D.WalkerR.F.NeilsonCoronary artery bypass surgery in patients with inherited antithrombin deficiency. Br J Haematol. 1995;90:479-482.
47. Y.Q.WangQ.L.ChenD.ZhuL.DongPortal vein thrombosis after aortic valve replacement surgery in a patient with antithrombin III deficiency: case presentation. J Cardiothorac Surg. 2014;9:73.
48. M.R.JacksonS.B.OlsenE.R.GomezB.M.AlvingUse of antithrombin III concentrates to correct antithrombin III deficiency during vascular surgery. J Vasc Surg. 1995;22:804-807.
49. M.D.KellyD.RosenfeldG.J.LeslieVenous surgery in patients with congenital antithrombin III deficiency. Aust N Z J Surg. 1994;64:865-868.
50. L.TengbornD.BergqvistSurgery in patients with congenital antithrombin III deficiency. Acta Chir Scand. 1988;154:179-183.
51. S.HolzhauerN.A.GoldenbergR.Junker. Inherited thrombophilia in children with venous thromboembolism and the familial risk of thromboembolism: an observational study. Blood. 2012;120:1510-1515.
52. P.S.MacleanR.C.TaitHereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options. Drugs. 2007;67:1429-1440.
53. E.MarciniakC.H.FarleyP.A.DeSimoneFamilial thrombosis due to antithrombin 3 deficiency. Blood. 1974;43:219-231.
54. W.ZengL.TangX.R.Jian. Genetic analysis should be included in clinical practice when screening for antithrombin deficiency. Thromb Haemost. 2015;113:262-271.
55. B.KhorE.M.Van CottLaboratory tests for antithrombin deficiency. Am J Hematol. 2010;85:947-950.
56. S.MargeticDiagnostic algorithm for thrombophilia screening. Clin Chem Lab Med. 2010;48:S27-S39.
57. S.MollThrombophilia: clinical-practical aspects. J Thromb Thrombolysis. 2015;39:367-378.
58. M.FranchiniThe utility of thrombophilia testing. Clin Chem Lab Med. 2014;52:495-497.
59. N.L.WhitlatchT.L.OrtelThrombophilias: when should we test and how does it help?Semin Respir Crit Care Med. 2008;29:25-39.
60. L.MuszbekZ.BereczkyB.KovácsI.KomáromiAntithrombin deficiency and its laboratory diagnosis. Clin Chem Lab Med. 2010;48:S67-S78.
61. C.Heleen Van OmmenS.Middeldorp. Thrombophilia in childhood: to test or not to test. Semin Thromb Hemost. 2011;37:794-801.
62. E.J.FavaloroD.McDonaldG.LippiLaboratory investigation of thrombophilia: the good, the bad, and the ugly. Semin Thromb Hemost. 2009;35:695-710.
63. E.J.FavaloroThe futility of thrombophilia testing. Clin Chem Lab Med. 2014;52:499-503.
64. P.TientadakulY.ChinthammitrK.SanpakitC.WongwanitY.NilanontInappropriate use of protein C, protein S, and antithrombin testing for hereditary thrombophilia screening: an experience from a large university hospital. Int J Lab Hematol. 2011;33:593-600.
65. W.M.LijferingJ.L.P.BrouwerN.J.G.M.Veeger. Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood. 2009;113:5314-5322.
66. E.J.FavaloroS.SoltaniJ.McDonaldE.GrezchnikL.EastonLaboratory identification of familial thrombophilia: do the pitfalls exceed the benefits? A reassessment of ABO-blood group, gender, age, and other laboratory parameters on the potential influence on a diagnosis of protein C, protein S, and antithrombin deficiency and the potential high risk of a false positive diagnosis. Lab Hematol. 2005;11:174-184.
67. K.Kottke-MarchantA.DuncanAntithrombin deficiency: issues in laboratory diagnosis. Arch Pathol Lab Med. 2002;126:1326-1336.
68. C.KearonM.CrowtherJ.HirshManagement of patients with hereditary hypercoagulable disorders. Annu Rev Med. 2000;51:169-185.
69. P.MonagleC.BarnesV.Ignjatovic. Developmental haemostasis. impact for clinical haemostasis laboratories. Thromb Haemost. 2006;95:362-372.
70. L.RaffiniC.ThornburgTesting children for inherited thrombophilia: more questions than answers. Br J Haematol. 2009;147:277-288.
71. M.Y.LimS.MollThrombophilia. Vasc Med. 2015;20:193-196.
72. C.Y.VossenJ.ConardJ.Fontcuberta. Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). J Thromb Haemost. 2005;3:459-464.
73. R.S.SchwartzK.A.BauerR.D.RosenbergE.J.KavanaughD.C.DaviesD.A.BogdanoffClinical experience with antithrombin III concentrate in treatment of congenital and acquired deficiency of antithrombin. The Antithrombin III Study Group. Am J Med. 1989;87:53S-60S.
74. A.TiedeR.C.TaitD.W.Shaffer. Antithrombin alfa in hereditary antithrombin deficient patients: a phase 3 study of prophylactic intravenous administration in high risk situations. Thromb Haemost. 2008;99:616-622.
75. I.I.I.Thrombate. Antithrombin III (human) [prescribing information]. Research Triangle Park, NC: Grifols; 2016.
76. Atryn. Antithrombin (recombinant) [prescribing information]. Framingham, MA: Revo Biologics; 2013.
77. C.M.SalasM.A.MiyaresAntithrombin III utilization in a large teaching hospital. P T. 2013;38:764-779.
78. M.J.PaidasC.ForsythI.QuéréM.RodgerJ.T.M.FrielingR.C.TaitPerioperative and peripartum prevention of venous thromboembolism in patients with hereditary antithrombin deficiency using recombinant antithrombin therapy. Blood Coagul Fibrinolysis. 2014;25:444-450.