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Medicina & Laboratorio

2013, Number 09-10

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Medicina & Laboratorio 2013; 19 (09-10)

Antiphospholipid syndrome: clinical and laboratory diagnosis

Escobar MM

Language: Spanish
References: 74
Page: 451-464
PDF size: 927.36 Kb.


ABSTRACT

Antiphospholipid syndrome has been a topic of ongoing research in different areas of medicine. Clinical and laboratory diagnosis are performed taking into account international guidelines to identify and characterize antiphospholipid syndrome. The primary objective of this article is to describe scientific advances in the study of the antiphospholipid syndrome, current classification criteria, the role of anticardiolipin antibodies, anti-β2 glycoprotein I and lupus anticoagulant, and to describe the pathogenic and immunological mechanisms in which these antibodies are involved. Furthermore, this article describes some of the associated clinical and diagnostic procedures currently used for antiphospholipid syndrome identification.


REFERENCES

  1. Ruiz-Irastorza G, Cuadrado MJ, Ruiz-Arruza I, Brey R, Crowther M, Derksen R, et al. Evidence-based recommendations for the prevention and long-term management of thrombosis in antiphospholipid antibody- positive patients: report of a task force at the 13th International Congress on antiphospholipid antibodies. Lupus 2011; 20: 206-218.

  2. Keeling D, Mackie I, Moore GW, Greer IA, Greaves M. Guidelines on the investigation and management of antiphospholipid syndrome. Br J Haematol 2012; 157: 47-58.

  3. Giannakopoulos B, Krilis SA. The pathogenesis of the antiphospholipid syndrome. N Engl J Med 2013; 368: 1033-1044.

  4. Lockshin MD. Update on antiphospholipid syndrome. Bull NYU Hosp Jt Dis 2008; 66: 195-197.

  5. Alonso Santor JE, Inglada Galiana L, Perez Paredes G. Síndrome antifosfolípido: estado actual. An Med Interna 2007; 24: 242-248.

  6. Lockshin MD, Sammaritano LR. Antiphospholipid antibodies and fetal loss. N Engl J Med 1992; 326: 951- 952; author reply 953-954.

  7. Alessandri C, Conti F, Pendolino M, Mancini R, Valesini G. New autoantigens in the antiphospholipid syndrome. Autoimmun Rev 2011; 10: 609-616.

  8. Aron AL, Gharavi AE, Shoenfeld Y. Mechanisms of action of antiphospholipid antibodies in the antiphospholipid syndrome. Int Arch Allergy Immunol 1995; 106: 8-12.

  9. Salmon JE, de Groot PG. Pathogenic role of antiphospholipid antibodies. Lupus 2008; 17: 405-411.

  10. Mackworth-Young CG. Antiphospholipid syndrome: multiple mechanisms. Clin Exp Immunol 2004; 136: 393-401.

  11. Dostal-Johnson D, Rote NS, Branch DW. IgG1 and IgG2 are the predominant subclasses of antiphospholipid antibody in women with the lupus anticoagulant. Clin Immunol Immunopathol 1990; 54: 309- 319.

  12. Steinkasserer A, Barlow PN, Willis AC, Kertesz Z, Campbell ID, Sim RB, et al. Activity, disulphide mapping and structural modelling of the fifth domain of human beta 2-glycoprotein I. FEBS Lett 1992; 313: 193-197.

  13. Cheng HM. Apoptotic antigens, B2-glycoprotein I, and antiphospholipid autoantibodies. Blood 1996; 88: 4396.

  14. Hunt JE, Krilis SA. Antiphospholipid antibodies, beta 2-glycoprotein I and thrombosis. Lupus 1993; 2: 285- 287.

  15. Matsuura E, Igarashi M, Igarashi Y, Nagae H, Ichikawa K, Yasuda T, et al. Molecular definition of human beta 2-glycoprotein I (beta 2-GPI) by cDNA cloning and inter-species differences of beta 2-GPI in alternation of anticardiolipin binding. Int Immunol 1991; 3: 1217-1221.

  16. Greaves M, Cohen H, MacHin SJ, Mackie I. Guidelines on the investigation and management of the antiphospholipid syndrome. Br J Haematol 2000; 109: 704-715.

  17. Pierangeli SS, Harris EN, Davis SA, DeLorenzo G. Beta 2-glycoprotein 1 (beta 2GP1) enhances cardiolipin binding activity but is not the antigen for antiphospholipid antibodies. Br J Haematol 1992; 82: 565- 570.

  18. Rand JH. Molecular pathogenesis of the antiphospholipid syndrome. Circ Res 2002; 90: 29-37.

  19. Asherson RA, Hughes GR. Primary antiphospholipid syndrome. Am J Med 1993; 94: 345-346.

  20. Cheng HM, Yap CG. Natural beta 2-glycoprotein I-independent anticardiolipin autoantibodies are not age-related. Stroke 1996; 27: 1007-1008.

  21. Rote NS, Dostal-Johnson D, Branch DW. Antiphospholipid antibodies and recurrent pregnancy loss: correlation between the activated partial thromboplastin time and antibodies against phosphatidylserine and cardiolipin. Am J Obstet Gynecol 1990; 163: 575-584.

  22. Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006; 4: 295-306.

  23. Emlen W, Niebur J, Kadera R. Accelerated in vitro apoptosis of lymphocytes from patients with systemic lupus erythematosus. J Immunol 1994; 152: 3685- 3692.

  24. Manfredi AA, Rovere P, Heltai S, Galati G, Nebbia G, Tincani A, et al. Apoptotic cell clearance in systemic lupus erythematosus. II. Role of beta2-glycoprotein I. Arthritis Rheum 1998; 41: 215-223.

  25. Chen PP, Giles I. Antibodies to serine proteases in the antiphospholipid syndrome. Curr Rheumatol Rep 2010; 12: 45-52.

  26. Merrill JT. Antibodies and clinical features of the antiphospholipid syndrome as criteria for systemic lupus erythematosus. Lupus 2004; 13: 869-876.

  27. Salle V, Maziere JC, Smail A, Cevallos R, Maziere C, Fuentes V, et al. Anti-annexin II antibodies in systemic autoimmune diseases and antiphospholipid syndrome. J Clin Immunol 2008; 28: 291-297.

  28. Andree HA, Stuart MC, Hermens WT, Reutelingsperger CP, Hemker HC, Frederik PM, et al. Clustering of lipid-bound annexin V may explain its anticoagulant effect. J Biol Chem 1992; 267: 17907-17912.

  29. Hoxha A, Ruffatti A, Tonello M, Bontadi A, Salvan E, Banzato A, et al. Antiphosphatidylserine/prothrombin antibodies in primary antiphospholipid syndrome. Lupus 2012; 21: 787-789.

  30. Sanmarco M, Boffa MC. Antiphosphatidylethanolamine antibodies and the antiphospholipid syndrome. Lupus 2009; 18: 920-923.

  31. Alarcon-Segovia D, Deleze M, Oria CV, Sanchez- Guerrero J, Gomez-Pacheco L, Cabiedes J, et al. Antiphospholipid antibodies and the antiphospholipid syndrome in systemic lupus erythematosus. A prospective analysis of 500 consecutive patients. Medicine (Baltimore) 1989; 68: 353-365.

  32. Wilson WA, Gharavi AE, Koike T, Lockshin MD, Branch DW, Piette JC, et al. International consensus statement on preliminary classification criteria for definite antiphospholipid syndrome: report of an international workshop. Arthritis Rheum 1999; 42: 1309-1311.

  33. Lee RM, Branch DW, Silver RM. Immunoglobulin A anti-beta2-glycoprotein antibodies in women who experience unexplained recurrent spontaneous abortion and unexplained fetal death. Am J Obstet Gynecol 2001; 185: 748-753.

  34. Plouffe L, Jr., White EW, Tho SP, Sweet CS, Layman LC, Whitman GF, et al. Etiologic factors of recurrent abortion and subsequent reproductive performance of couples: have we made any progress in the past 10 years? Am J Obstet Gynecol 1992; 167: 313-320; discussion 320-311.

  35. Stirrat GM. Recurrent miscarriage. II: Clinical associations, causes, and management. Lancet 1990; 336: 728-733.

  36. Tincani A, Rebaioli CB, Frassi M, Taglietti M, Gorla R, Cavazzana I, et al. Pregnancy and autoimmunity: maternal treatment and maternal disease influence on pregnancy outcome. Autoimmun Rev 2005; 4: 423-428.

  37. Kutteh WH, Lyda EC, Abraham SM, Wacholtz MC. Association of anticardiolipin antibodies and pregnancy loss in women with systemic lupus erythematosus. Fertil Steril 1993; 60: 449-455.

  38. Lubbe WF, Pattison N, Liggins GC. Antiphospholipid antibodies and pregnancy. N Engl J Med 1985; 313: 1350-1351.

  39. Mackworth-Young C. Antiphospholipid antibodies: more than just a disease marker? Immunol Today 1990; 11: 60-65.

  40. Diez-Ewald M. Anticuerpos antifosfolípidos. Revisión. Invest Clin 1993; 34: 143-158.

  41. Galli M, Luciani D, Bertolini G, Barbui T. Anti-beta 2-glycoprotein I, antiprothrombin antibodies, and the risk of thrombosis in the antiphospholipid syndrome. Blood 2003; 102: 2717-2723.

  42. Reber G, de Moerloose P. Anti-beta2-glycoprotein I antibodies--when and how should they be measured? Thromb Res 2004; 114: 527-531.

  43. Gharavi AE, Pierangeli SS, Levy RA, Harris EN. Mechanisms of pregnancy loss in antiphospholipid syndrome. Clin Obstet Gynecol 2001; 44: 11-19.

  44. Hanly JG, Smith SA, Anderson D. Inhibition of annexin V binding to cardiolipin and thrombin generation in an unselected population with venous thrombosis. J Rheumatol 2003; 30: 1990-1993.

  45. Rand JH, Wu XX, Andree HA, Lockwood CJ, Guller S, Scher J, et al. Pregnancy loss in the antiphospholipid- antibody syndrome--a possible thrombogenic mechanism. N Engl J Med 1997; 337: 154-160.

  46. Rand JH, Wu XX, Guller S, Scher J, Andree HA, Lockwood CJ. Antiphospholipid immunoglobulin G antibodies reduce annexin-V levels on syncytiotrophoblast apical membranes and in culture media of placental villi. Am J Obstet Gynecol 1997; 177: 918- 923.

  47. Ornoy A, Yacobi S, Matalon ST, Blank M, Blumenfeld Z, Miller RK, et al. The effects of antiphospholipid antibodies obtained from women with SLE/APS and associated pregnancy loss on rat embryos and placental explants in culture. Lupus 2003; 12: 573-578.

  48. Diogenes MJ, Diogenes PC, de Morais Carneiro RM, Neto CC, Duarte FB, Holanda RR. Cutaneous manifestations associated with antiphospholipid antibodies. Int J Dermatol 2004; 43: 632-637.

  49. Gibson GE, Su WP, Pittelkow MR. Antiphospholipid syndrome and the skin. J Am Acad Dermatol 1997; 36: 970-982.

  50. Daugas E, Nochy D, Huong DL, Duhaut P, Beaufils H, Caudwell V, et al. Antiphospholipid syndrome nephropathy in systemic lupus erythematosus. J Am Soc Nephrol 2002; 13: 42-52.

  51. Nochy D, Daugas E, Hill G, Grunfeld JP. Antiphospholipid syndrome nephropathy. J Nephrol 2002; 15: 446-461.

  52. Tektonidou MG, Sotsiou F, Nakopoulou L, Vlachoyiannopoulos PG, Moutsopoulos HM. Antiphospholipid syndrome nephropathy in patients with systemic lupus erythematosus and antiphospholipid antibodies: prevalence, clinical associations, and long-term outcome. Arthritis Rheum 2004; 50: 2569- 2579.

  53. Brey RL. Antiphospholipid antibodies in young adults with stroke. J Thromb Thrombolysis 2005; 20: 105- 112.

  54. Cervera R. Coronary and valvular syndromes and antiphospholipid antibodies. Thromb Res 2004; 114: 501-507.

  55. Menon S, Jameson-Shortall E, Newman SP, Hall-Craggs MR, Chinn R, Isenberg DA. A longitudinal study of anticardiolipin antibody levels and cognitive functioning in systemic lupus erythematosus. Arthritis Rheum 1999; 42: 735-741.

  56. Shrot S, Katzav A, Korczyn AD, Litvinju Y, Hershenson R, Pick CG, et al. Behavioral and cognitive deficits occur only after prolonged exposure of mice to antiphospholipid antibodies. Lupus 2002; 11: 736-743.

  57. Chalem P. Síndrome de anticuerpos antifosfolípidos: manifestaciones en el sistema nervioso central. Asociación Colombiana de Neurología. http://www. acnweb.org/guia/g3cap6.pdf. Consultado en julio de 2013.

  58. Brey RL. Antiphospholipid antibodies and ischemic stroke. Heart Dis Stroke 1992; 1: 379-382.

  59. Brey RL, Coull BM. Antiphospholipid antibodies: origin, specificity, and mechanism of action. Stroke 1992; 23: I15-18.

  60. Carhuapoma JR, Mitsias P, Levine SR. Cerebral venous thrombosis and anticardiolipin antibodies. Stroke 1997; 28: 2363-2369.

  61. Coull BM, Levine SR, Brey RL. The role of antiphospholipid antibodies in stroke. Neurol Clin 1992; 10: 125-143.

  62. Davis WD, Brey RL. Antiphospholipid antibodies and complement activation in patients with cerebral ischemia. Clin Exp Rheumatol 1992; 10: 455-460.

  63. Levine SR, Brey RL, Joseph CL, Havstad S. Risk of recurrent thromboembolic events in patients with focal cerebral ischemia and antiphospholipid antibodies. The Antiphospholipid Antibodies in Stroke Study Group. Stroke 1992; 23: I29-32.

  64. Diz-Kucukkaya R, Hacihanefioglu A, Yenerel M, Turgut M, Keskin H, Nalcaci M, et al. Antiphospholipid antibodies and antiphospholipid syndrome in patients presenting with immune thrombocytopenic purpura: a prospective cohort study. Blood 2001; 98: 1760-1764.

  65. Macchi L, Rispal P, Clofent-Sanchez G, Pellegrin JL, Nurden P, Leng B, et al. Anti-platelet antibodies in patients with systemic lupus erythematosus and the primary antiphospholipid antibody syndrome: their relationship with the observed thrombocytopenia. Br J Haematol 1997; 98: 336-341.

  66. Arnout J. The pathogenesis of the antiphospholipid syndrome: a hypothesis based on parallelisms with heparin-induced thrombocytopenia. Thromb Haemost 1996; 75: 536-541.

  67. Lakos G, Favaloro EJ, Harris EN, Meroni PL, Tincani A, Wong RC, et al. International consensus guidelines on anticardiolipin and anti-beta2-glycoprotein I testing: report from the 13th International Congress on Antiphospholipid Antibodies. Arthritis Rheum 2012; 64: 1-10.

  68. Bertolaccini ML, Khamashta MA. Diagnosis of antiphospholipid syndrome. Expert Rev Hematol 2008; 1: 183-188.

  69. Harris EN, Pierangeli SS, Gharavi AE. Diagnosis of the antiphospholipid syndrome: a proposal for use of laboratory tests. Lupus 1998; 7 Suppl 2: S144-148.

  70. Pierangeli SS, Stewart M, Silva LK, Harris EN. An antiphospholipid wet workshop: 7th International Symposium on Antiphospholipid Antibodies. J Rheumatol 1998; 25: 156-160.

  71. Medina Y, Martínez JB, Matínez O, Rondón F, Restrepo JF, Iglesias A. Lupus y síndrome antifosfolípido en el embarazo. Acta Med Colomb 2005; 30: 50-58.

  72. Pengo V, Tripodi A, Reber G, Rand JH, Ortel TL, Galli M, et al. Update of the guidelines for lupus anticoagulant detection. Subcommittee on Lupus Anticoagulant/ Antiphospholipid Antibody of the Scientific and Standardisation Committee of the International Society on Thrombosis and Haemostasis. J Thromb Haemost 2009; 7: 1737-1740.

  73. Derksen RH, de Groot PG. Tests for lupus anticoagulant revisited. Thromb Res 2004; 114: 521-526.

  74. Hanly JG. Antiphospholipid syndrome: an overview. CMAJ 2003; 168: 1675-1682.




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