Autoantibodies to coagulation factors: From pathophysiology to diagnosis and therapy

Autoimmunity Reviews

Volumn 13, Issue 1, 2014, Pages 40-48

  Cugno, Massimo ^a   Gualtierotti, Roberta ^a   Tedeschi, Alberto ^b   Meroni, Pier Luigi ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Acquired hemophilia; Acquired von Willebrand syndrome; Activated partial thromboplastin time; Bethesda assay; Coagulation factors; Prothrombin time

Indexed keywords

ACTIVATED PROTHROMBIN COMPLEX; AUTOANTIBODY; AZATHIOPRINE; BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 10A; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR 8 INHIBITOR; BLOOD CLOTTING FACTOR 9; BLOOD CLOTTING FACTOR AUTOANTIBODY; CYCLOPHOSPHAMIDE; CYCLOSPORIN; FIBRINOGEN; FRESH FROZEN PLASMA; IMMUNOGLOBULIN; IMMUNOGLOBULIN G ANTIBODY; MYCOPHENOLIC ACID; PREDNISONE; PROTHROMBIN COMPLEX; RECOMBINANT BLOOD CLOTTING FACTOR 7A; RITUXIMAB; STEROID; UNCLASSIFIED DRUG; VINCRISTINE; VON WILLEBRAND FACTOR;

ANTIGEN ANTIBODY REACTION; ANTIPHOSPHOLIPID SYNDROME; ARTERY THROMBOSIS; AUTOIMMUNE DISEASE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING DISORDER; BLEEDING TENDENCY; BLOOD CLOTTING TEST; BLOOD CLOTTING TIME; BLOOD TRANSFUSION; CARDIOVASCULAR DISEASE; CLINICAL TRIAL (TOPIC); ENZYME IMMUNOASSAY; FIBRINOGEN SYNTHESIS; GAMMOPATHY; HEMOPHILIA; HEMOPHILIA A; HEMOPHILIA B; HEMOSTASIS; HUMAN; HUMORAL IMMUNE DEFICIENCY; HYPOTHYROIDISM; IMMUNOADSORPTION; IMMUNOASSAY; IMMUNOLOGICAL TOLERANCE; IMMUNOSUPPRESSIVE TREATMENT; LYMPHOPROLIFERATIVE DISEASE; MEGAKARYOCYTE; MISSENSE MUTATION; MYELOPROLIFERATIVE DISORDER; NONHUMAN; PARTIAL THROMBOPLASTIN TIME; PATHOPHYSIOLOGY; PLASMAPHERESIS; PROTEIN DEGRADATION; PROTHROMBIN TIME; REVIEW; SOLID TUMOR; SUBSTITUTION THERAPY; SYSTEMIC LUPUS ERYTHEMATOSUS; WOUND HEALING IMPAIRMENT;

ACQUIRED HEMOPHILIA; ACQUIRED VON WILLEBRAND SYNDROME; ACTIVATED PARTIAL THROMBOPLASTIN TIME; BETHESDA ASSAY; COAGULATION FACTORS; PROTHROMBIN TIME;

ANIMALS; ANTIBODY FORMATION; AUTOANTIBODIES; AUTOIMMUNE DISEASES; BLOOD COAGULATION DISORDERS; BLOOD COAGULATION FACTORS; HEMORRHAGE; HUMANS;

EID: 84886953512     PISSN: 15689972     EISSN: 18730183     Source Type: Journal    
DOI: 10.1016/j.autrev.2013.08.001     Document Type: Review

References (85)

1. Colman R.W., Marder V.J., Clowes A.W., George J.N., Goldhaber S.Z. Hemostasis and thrombosis: basic principles and clinical practice 2011, Lippincott Williams & Wilkins (Ed.).
2. Ahmed A.E. Autoantibodies to coagulation factors and bleeding disorders. Clin Rev Allergy Immunol 1998, 16:313-319.
3. Franchini M., Lippi G., Favaloro E.J. Acquired inhibitors of coagulation factors: part II. Semin Thromb Hemost 2012, 38:447-453.
4. Pierangeli S.S., Chen P.P., Raschi E., Scurati S., Grossi C., Borghi M.O., et al. Antiphospholipid antibodies and the antiphospholipid syndrome: pathogenic mechanisms. Semin Thromb Hemost 2008, 34:236-250.
5. Giannakopoulos B., Krilis S.A. The pathogenesis of the antiphospholipid syndrome. N Engl J Med 2013, 368:1033-1044.
6. Criado P.R., Rivitti E.A., Sotto M.N., de Carvalho J.F. Livedoid vasculopathy as a coagulation disorder. Autoimmun Rev 2011, 10:353-360.
7. Galarza-Maldonado C., Kourilovitch M.R., Pérez-Fernández O.M., Gaybor M., Cordero C., Cabrera S., et al. Obstetric antiphospholipid syndrome. Autoimmun Rev 2012, 11:288-295.
8. Franchini M., Targher G., Montagnana M., Lippi G. Laboratory, clinical and therapeutic aspects of acquired hemophilia A. Clin Chim Acta 2008, 395:14-18.
9. Lollar P. Pathogenic antibodies to coagulation factors. Part one: factor VIII and factor IX. J Thromb Haemost 2004, 2:1082-1095.
10. Peerlinck K., Jacquemin M.G., Arnout J., et al. Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. Blood 1999, 2267-2273.
11. Toole J.J., Knopf J.L., Wozney J.M., Sultzman L.A., Buecker J.L., Pittman D.D., et al. Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature 1984, 312:342-347.
12. Gitschier J., Wood W.I., Goralka T.M., Wion K.L., Chen E.Y., Eaton D.H., et al. Characterization of the human factor VIII gene. Nature 1984, 312:326-330.
13. Kane W.H. Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders 1988.
14. Ehrenforth S., Kreuz W., Scharrer I., Linde R., Funk M., Güngör T., et al. Incidence of development of factor VIII and factor IX inhibitors in haemophiliacs. Lancet 1992, 339:594-598.
15. Sharathkumar A., Lillicrap D., Blanchette V.S., et al. Intensive exposure to factor VIII is a risk factor for inhibitor development in mild hemophilia A. J Thromb Haemost 2003, 1228-1236.
16. Coppola A., Favaloro E.J., Tufano A., Di Minno M.N., Cerbone A.M., Franchini M. Acquired inhibitors of coagulation factors: part I-acquired hemophilia A. Semin Thromb Hemost 2012, 38:433-446.
17. Meiklejohn D.J., Watson H.G. Acquired haemophilia in association with organ-specific autoimmune disease. Haemophilia 2001, 7:523-525.
18. Shetty S., Bhave M., Ghosh K. Acquired hemophilia A: diagnosis, aetiology, clinical spectrum and treatment options. Autoimmun Rev 2011, 10:311-316.
19. Castelli R., Faricciotti A., Cicuti S., Franceschini F., Vismara A., Porro T. Acquired factor VIII inhibitor in association with myelodisplastic syndrome: report of a new case. Haematologica 2002, 87:ECR02.
20. Hauser I., Lechner K. Solid tumors and factor VIII antibodies. Thromb Haemost 1999, 82:1005-1007.
21. Cohen A.J., Kessler C.M. Acquired inhibitors. Baillieres Clin Haematol 1996, 9:331-354.
22. Matsumoto T., Shima M., Fukuda K., Nogami K., Giddings J.C., Murakami T., et al. Immunological characterization of factor VIII autoantibodies in patients with acquired hemophilia A in the presence or absence of underlying disease. Thromb Res 2001, 104:381-388.
23. Biggs R., Austen D.E., Denson K.W., Borrett R., Rizza C.R. The mode of action of antibodies which destroy factor VIII. II. Antibodies which give complex concentration graphs. Br J Haematol 1972, 23:137-155.
24. Ling M., Duncan E.M., Rodgers S.E., Somogyi A.A., Crabb G.A., Street A.M., et al. Classification of the kinetics of factor VIII inhibitors in haemophilia A: plasma dilution studies are more discriminatory than time-course studies. Br J Haematol 2001, 114:861-867.
25. Algiman M., Dietrich G., Nydegger U.E., Boieldieu D., Sultan Y., Kazatchkine M.D. Natural antibodies to factor VIII (anti-hemophilic factor) in healthy individuals. Proc Natl Acad Sci U S A 1992, 89:3795-3799.
26. Ljung R., Petrini P., Tengborn L., Sjorin E. Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity. Br J Haematol 2001, 113:81-86.
27. Warrier I., Ewenstein B.M., Koerper M.A., Shapiro A., Key N., DiMichele D., et al. Factor IX inhibitors and anaphylaxis in hemophilia B. J Pediatr Hematol Oncol 1997, 19:23-27.
28. Plow E.F., Edgington T.S. Immune responses to the cleavage-associated neoantigens of fibrinogen in man. Identification and characterization of humoral antibodies specific for cleavage fragments. J Clin Invest 1975, 56:1509-1518.
29. Ruiz-Arguelles A. Spontaneous reversal of acquired autoimmune dysfibrinogenemia probably due to an antiidiotypic antibody directed to an interspecies cross-reactive idiotype expressed on antifibrinogen antibodies. J Clin Invest 1998, 82:958-963.
30. Hoots W.K., Carrell N.A., Wagner R.H., Cooper H.A., McDonagh J. A naturally occurring antibody that inhibits fibrin polymerization. N Engl J Med 1981, 304:857-861.
31. Whitaker A.N., McFarlane J.R., Rowe E.A., Lee K., Masci P.P. Measurement of autoantibodies against fibrinogen and fibrin degradation products by enzyme-linked immunoassay. Thromb Haemost 1983, 53:80-85.
32. Kondera-Anasz Z. Antibodies against fibrinogen in pregnant women, in post delivery women and in the newborns. Thromb Haemost 1998, 79:963-968.
33. Dear A., Brennan S.O., Sheat M.J., et al. Acquired dysfibrinogenemia caused by monoclonal production of immunoglobulin lambda light chain. Haematologica 2007, 92:e111-e117.
34. Ra'anani P., Levi Y., Varon D., Gitel S., Martinowitz U. Congenital afibrinogenemia with bleeding, bone cysts and antibodies to fibrinogen. Harefuah 2013, 121:291-293.
35. Nawarawong W., Wyshock E., Meloni F.J., Weitz J., Schmaier A.H. The rate of fibrinopeptide B release modulates the rate of clot formation: a study with an acquired inhibitor to fibrinopeptide B release. Br J Haematol 1991, 79:296-301.
36. Chouhan V.D., De La Cadena R.A., Nagaswami C., Weisel J.W., Kajani M., Rao A.K. Simultaneous occurrence of human antibodies directed against fibrinogen, thrombin, and factor V following exposure to bovine thrombin: effects on blood coagulation, protein C activation and platelet function. Thromb Haemost 1997, 77:343-349.
37. Bertolaccini M.L., Atsumi T., Koike T., Hughes G.R., Khamashta M.A. Antiprothrombin antibodies detected in two different assay systems. Prevalence and clinical significance in systemic lupus erythematosus. Thromb Haemost 2005, 93:289-297.
38. Miyakis S., Lockshin M.D., Atsumi T., Branch D.W., Brey R.L., Cervera R., et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006, 4:259-306.
39. Iaccarino L., Ghirardello A., Canova M., Zen M., Bettio S., Nalotto L., et al. Anti-annexins autoantibodies: their role as biomarkers of autoimmune diseases. Autoimmun Rev 2011, 10:553-558.
40. Arvieux J., Darnige L., Caron C., Reber G., Bensa J.C., Colomb M.G. Development of an ELISA for autoantibodies to prothrombin showing their prevalence in patients with lupus anticoagulants. Thromb Haemost 1995, 74:1120-1125.
41. Bevers E.M., Galli M., Barbui T., Comfurius P., Zwaal R.F. Lupus anticoagulant IgG's (LA) are not directed to phospholipids only, but to a complex of lipid-bound human prothrombin. Thromb Haemost 1991, 66:629-632.
42. Bajaj S.P., Rapaport S.I., Fierer D.S., Herbst K.D., Schwartz D.B. A mechanism for the hypoprothrombinemia of the acquired hypoprothrombinemia-lupus anticoagulant syndrome. Blood 1983, 61:684-692.
43. Lollar P. Pathogenic antibodies to coagulation factors. Part II. Fibrinogen, prothrombin, thrombin, factor V, factor XI, factor XII, factor XIII, the protein C system and von Willebrand factor. J Thromb Haemost 2005, 3:1385-1391.
44. Lawson J.H., Pennell B.J., Olson J.D., Mann K.G. Isolation and characterization of an acquired antithrombin antibody. Blood 1990, 76:2249-2257.
45. Ortel T.L., Mercer M.C., Thames E.H., Moore K.D., Lawson J.H. Immunologic impact and clinical outcomes after surgical exposure to bovine thrombin. Ann Surg 2001, 233:88-96.
46. Knobl P., Lechner K. Acquired factor V inhibitors. Baillieres Clin Haematol 1998, 11:305-318.
47. Kunimoto H., Miyakawa Y., Okamoto S. Acquired factor V deficiency and mini literature review. Haemophilia 2012, 18:e86-e87.
48. Nesheim M.E., Nichols W.L., Cole T.L., Houston J.G., Schenk R.B., Mann K.G., et al. Isolation and study of an acquired inhibitor of human coagulation factor V. J Clin Invest 1986, 77:405-415.
49. Kamikubo Y., Miyamoto S., Iwasa A., et al. Purification and characterization of factor VII inhibitor found in a patient with life threatening bleeding. Thromb Haemost 2000, 83:60-64.
50. Reece E.A., Clyne L.P., Romero R., Hobbins J.C. Spontaneous factor XI inhibitors. Seven additional cases and a review of the literature. Arch Intern Med 1984, 144:525-529.
51. Bortoli R., Monticielo O.A., Chakr R.M., Palominos P.E., Rohsig L.M., Kohem C.L., et al. Acquired factor XI inhibitor in systemic lupus erythematosus-case report and literature review. Semin Arthritis Rheum 2009, 39:61-65.
52. Schnall S.F., Duffy T.P., Clyne L.P. Acquired factor XI inhibitors in congenitally deficient patients. Am J Hematol 1987, 26:323-328.
53. Rubio-Jurado B., Iñiguez-Franco P., Reyes P.A., Robles G., Salazar-Páramo M., Zavala-Cerna G., et al. The clinical significance of coagulation and the inflammatory response in autoimmunity. Clin Rev Allergy Immunol 2012, 42:172-180.
54. Gallimore M.J., Jones D.W., Winter M. Factor XII determinations in the presence and absence of phospholipid antibodies. Thromb Haemost 1998, 79:87-90.
55. Bertolaccini M.L., Mepani K., Sanna G., Hughes G.R., Khamashta M.A. Factor XII autoantibodies as a novel marker for thrombosis and adverse obstetric history in patients with systemic lupus erythematosus. Ann Rheum Dis 2007, 66:533-536.
56. Harris S.L., Jones D.W., Gallimore M.J., Nicholls P.J., Winter M. The antigenic binding site(s) of antibodies to factor XII associated with the antiphospholipid syndrome. J Thromb Haemost 2005, 3:969-975.
57. Franchini M., Frattini F., Crestani S., Bonfanti C. Acquired FXIII inhibitors: a systematic review. J Thromb Thrombolysis 2013, 36:109-114.
58. Luo Y.Y., Zhang G.S. Acquired factor XIII inhibitor: clinical features, treatment, fibrin structure and epitope determination. Haemophilia 2011, 17:393-398.
59. Matsuoka M., Majima T., Onodera T., Ieko M., Souri M., Ichinose A., et al. Hemorrhagic-acquired factor XIII deficiency associated with tocilizumab for treatment of rheumatoid arthritis. Int J Hematol 2012, 96:781-785.
60. Simone J.V., Cornet J.A., Abildgaard C.F. Acquired von Willebrand's syndrome in systemic lupus erythematosus. Blood 1968, 31:806-812.
61. Collins P., Budde U., Rand J.H., Federici A.B., Kessler C.M. Epidemiology and general guidelines of the management of acquired haemophilia and von Willebrand syndrome. Haemophilia 2008, 14:49-55.
62. Federici A.B., Rand J.H., Bucciarelli P., Budde U., van Genderen P.J., Mohri H., et al. Acquired von Willebrand syndrome: data from an international registry. Thromb Haemost 2000, 84:345-349.
63. Mohri H., Motomura S., Kanamori H., Matsuzaki M., Watanabe S., Maruta A., et al. Clinical significance of inhibitors in acquired von Willebrand syndrome. Blood 1998, 91:3623-3629.
64. Kumar S., Pruthi R.K., Nichols W.L. Acquired von Willebrand disease. Mayo Clin Proc 2002, 77:181-187.
65. van Genderen P.J., Vink T., Michiels J.J., van 't Veer M.B., Sixma J.J., van Vliet H.H. Acquired von Willebrand disease caused by an autoantibody selectively inhibiting the binding of von Willebrand factor to collagen. Blood 1994, 84:3378-3384.
66. Federici A.B. Acquired von Willebrand syndrome: is it an extremely rare disorder or do we see only the tip of the iceberg?. J Thromb Haemost 2008, 6:565-568.
67. Kershaw G., Favaloro E.J. Laboratory identification of factor inhibitors: an update. Pathology 2012, 44:293-302.
68. Macik B.G., Crow P. Acquired autoantibodies to coagulation factors. Curr Opin Hematol 1999, 6:323-328.
69. Tellier Z., André M.H., Polack B. Management of haemophilia A-inhibitor patients: clinical and regulatory perspectives. Clin Rev Allergy Immunol 2009, 37:125-134.
70. Huth-Kuhne A., Baudo F., Collins P., Ingerslev J., Kessler C.M., Lévesque H., et al. International recommendations on the diagnosis and treatment of patients with acquired hemophilia A. Haematologica 2009, 94:566-575.
71. Collins P.W. Management of acquired haemophilia A. J Thromb Haemost 2011, 9:226-235.
72. Knoebl P., Marco P., Baudo F., Collins P., Huth-Kühne A., Nemes L., et al. Demographic and clinical data in acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). J Thromb Haemost 2012, 10:622-631.
73. Aledort L.M. Comparative thrombotic event incidence after infusion of recombinant factor VIIa versus factor VIII inhibitor bypass activity. J Thromb Haemost 2004, 2:1700-1708.
74. Morrison A.E., Ludlam C.A., Kessler C. Use of porcine factor VIII in the treatment of patients with acquired hemophilia. Blood 1993, 81:1513-1520.
75. Hay C.R., Lozier J.N., Lee C.A., Laffan M., Tradati F., Santagostino E., et al. Safety profile of porcine factor VIII and its use as hospital and home-therapy for patients with haemophilia-A and inhibitors: the results of an international survey. Thromb Haemost 1996, 75:25-29.
76. Franchini M., Lippi G. Acquired factor VIII inhibitors. Blood 2008, 112:250-255.
77. Sborov D.W., Rodgers G.M. How I manage patients with acquired haemophilia A. Br J Haematol 2013, 161:157-165.
78. Collins P., Baudo F., Knoebl P., Lévesque H., Nemes L., Pellegrini F., et al. Immunosuppression for acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). Blood 2012, 120:47-55.
79. Garvey B. Rituximab in the treatment of autoimmune haematological disorders. Br J Haematol 2008, 141:149-169.
80. Au W.Y., Lam C.C., Kwong Y.L. Successful treatment of acquired factor VIII inhibitor with cyclosporin. Haemophilia 2004, 10:98-100.
81. Zeitler H., Ulrich-Merzenich G., Hess L., Konsek E., Unkrig C., Walger P., et al. Treatment of acquired hemophilia by the Bonn-Malmo Protocol: documentation of an in vivo immunomodulating concept. Blood 2005, 105:2287-2293.
82. Lusher J.M. Inhibitor antibodies to factor VIII and factor IX: management. Semin Thromb Hemost 2000, 26:179-188.
83. Negrier C., Goudemand J., Sultan Y., Bertrand M., Rothschild C., Lauroua P. Multicenter retrospective study on the utilization of FEIBA in France in patients with factor VIII and factor IX inhibitors. French FEIBA Study Group. Factor Eight Bypassing Activity. Thromb Haemost 1997, 77:1113-1119.
84. Daly H.M., Carson P.J., Smith J.K. Intracerebral haemorrhage due to acquired factor XIII inhibitor-successful response to factor XIII concentrate. Blood Coagul Fibrinolysis 1991, 2:507-514.
85. Boehlen F., Casini A., Chizzolini C., Mansouri B., Kohler H.P., Schroeder V., et al. Acquired factor XIII deficiency: a therapeutic challenge. Thromb Haemost 2013, 109:479-487.