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Các khái niệm hiện tại trong chẩn đoán và quản lý hội chứng antiphospholipid và các biểu hiện ở mắt
Tóm tắt
Hội chứng antiphospholipid (APS) là một rối loạn tự miễn liên quan đến các biến chứng sản khoa, các biến chứng huyết khối liên quan đến cả động mạch và tĩnh mạch, và các biểu hiện không huyết khối ảnh hưởng đến nhiều hệ thống khác nhau với các trình bày lâm sàng khác nhau. Chẩn đoán yêu cầu sự hiện diện của các kháng thể antiphospholipid. Cơ chế gây bệnh chính xác của APS vẫn chưa được biết rõ. Tuy nhiên, gần đây đã cho thấy rằng sự kích hoạt các loại tế bào khác nhau bởi các kháng thể antiphospholipid đóng một vai trò quan trọng trong việc hình thành huyết khối. Sự tham gia của mắt là một trong những biểu hiện lâm sàng quan trọng của APS và có thể thay đổi về hình thức trình bày. Do đó, với tư cách là một bác sĩ nhãn khoa, việc quen thuộc với các phát hiện ở mắt của APS là rất quan trọng để ngăn ngừa các biến chứng bổ sung có thể phát sinh. Hơn nữa, việc xác định liên tục các yếu tố mới và cụ thể góp phần vào cơ chế gây bệnh của APS có thể cung cấp các lựa chọn điều trị mới trong việc quản lý bệnh này trong tương lai.
Từ khóa
#hội chứng antiphospholipid #tự miễn #kháng thể antiphospholipid #biến chứng huyết khối #biểu hiện ở mắt #chẩn đoán #quản lý bệnhTài liệu tham khảo
Gomez-Puerta JA, Cervera R (2014) Diagnosis and classification of the antiphospholipid syndrome. J Autoimmun 48-49:20–25
Chaturvedi S, McCrae KR (2017) Diagnosis and management of the antiphospholipid syndrome. Blood Rev 31(6):406–417
Durrani OM, Gordon C, Murray PI (2002) Primary anti-phospholipid antibody syndrome (APS): current concepts. Surv Ophthalmol 47(3):215–238
Espinosa G, Cervera R, Font J, Shoenfeld Y (2003) Antiphospholipid syndrome: pathogenic mechanisms. Autoimmun Rev 2(2):86–93
Cavazzana I, Andreoli L, Limper M, Franceschini F, Tincani A (2018) Update on Antiphospholipid syndrome: ten topics in 2017. Curr Rheumatol Rep 20(3):15
Cervera R, Piette JC, Font J, Khamashta MA, Shoenfeld Y, Camps MT, Jacobsen S, Lakos G, Tincani A, Kontopoulou-Griva I et al (2002) Antiphospholipid syndrome: clinical and immunologic manifestations and patterns of disease expression in a cohort of 1,000 patients. Arthritis Rheum 46(4):1019–1027
Andreoli L, Chighizola CB, Banzato A, Pons-Estel GJ, Ramire de Jesus G, Erkan D (2013) Estimated frequency of antiphospholipid antibodies in patients with pregnancy morbidity, stroke, myocardial infarction, and deep vein thrombosis: a critical review of the literature. Arthritis Care Res 65(11):1869–1873
Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, Derksen RH, DEG PG, Koike T, Meroni PL et al (2006) International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 4(2):295–306
Garcia D, Erkan D (2018) Diagnosis and Management of the Antiphospholipid Syndrome. N Engl J Med 378(21):2010–2021
de Groot PG, de Laat B (2017) Mechanisms of thrombosis in systemic lupus erythematosus and antiphospholipid syndrome. Best Pract Res Clin Rheumatol 31(3):334–341
Yang P, Kruh JN, Foster CS (2012) Antiphospholipid antibody syndrome. Curr Opin Ophthalmol 23(6):528–532
Chighizola CB, Ubiali T, Meroni PL (2015) Treatment of thrombotic Antiphospholipid syndrome: the rationale of current management-an insight into future approaches. J Immunol Res 2015:951424
Raschi E, Testoni C, Bosisio D, Borghi MO, Koike T, Mantovani A, Meroni PL (2003) Role of the MyD88 transduction signaling pathway in endothelial activation by antiphospholipid antibodies. Blood 101(9):3495–3500
Allen KL, Fonseca FV, Betapudi V, Willard B, Zhang J, McCrae KR (2012) A novel pathway for human endothelial cell activation by antiphospholipid/anti-beta2 glycoprotein I antibodies. Blood 119(3):884–893
Wu M, Barnard J, Kundu S, McCrae KR (2015) A novel pathway of cellular activation mediated by antiphospholipid antibody-induced extracellular vesicles. J Thromb Haemost 13(10):1928–1940
Canaud G, Legendre C, Terzi F (2015) AKT/mTORC pathway in antiphospholipid-related vasculopathy: a new player in the game. Lupus 24(3):227–230
Ruiz-Irastorza G, Crowther M, Branch W, Khamashta MA (2010) Antiphospholipid syndrome. Lancet 376(9751):1498–1509
Meng H, Yalavarthi S, Kanthi Y, Mazza LF, Elfline MA, Luke CE, Pinsky DJ, Henke PK, Knight JS (2017) In vivo role of neutrophil extracellular traps in Antiphospholipid antibody-mediated venous thrombosis. Arthritis Rheum 69(3):655–667
Martinod K, Wagner DD (2014) Thrombosis: tangled up in NETs. Blood 123(18):2768–2776
von Bruhl ML, Stark K, Steinhart A, Chandraratne S, Konrad I, Lorenz M, Khandoga A, Tirniceriu A, Coletti R, Kollnberger M et al (2012) Monocytes, neutrophils, and platelets cooperate to initiate and propagate venous thrombosis in mice in vivo. J Exp Med 209(4):819–835
Gould TJ, Vu TT, Swystun LL, Dwivedi DJ, Mai SH, Weitz JI, Liaw PC (2014) Neutrophil extracellular traps promote thrombin generation through platelet-dependent and platelet-independent mechanisms. Arterioscler Thromb Vasc Biol 34(9):1977–1984
Fuchs TA, Brill A, Duerschmied D, Schatzberg D, Monestier M, Myers DD Jr, Wrobleski SK, Wakefield TW, Hartwig JH, Wagner DD (2010) Extracellular DNA traps promote thrombosis. Proc Natl Acad Sci U S A 107(36):15880–15885
Knight JS, Meng H, Coit P, Yalavarthi S, Sule G, Gandhi AA, Grenn RC, Mazza LF, Ali RA, Renauer P et al (2017) Activated signature of antiphospholipid syndrome neutrophils reveals potential therapeutic target. JCI Insight 2:18
Abrahams VM, Chamley LW, Salmon JE (2017) Emerging treatment models in rheumatology: Antiphospholipid syndrome and pregnancy: pathogenesis to translation. Arthritis Rheum 69(9):1710–1721
Cervera R (2017) Antiphospholipid syndrome. Thromb Res 151(Suppl 1):S43–S47
Negrini S, Pappalardo F, Murdaca G, Indiveri F, Puppo F (2017) The antiphospholipid syndrome: from pathophysiology to treatment. Clin Exp Med 17(3):257–267
Xiao M, Zhang Y, Zhang S, Qin X, Xia P, Cao W, Jiang W, Chen H, Ding X, Zhao H et al (2020) Antiphospholipid antibodies in critically ill patients with COVID-19. Arthritis Rheum 72(12):1998–2004
Gkrouzman E, Barbhaiya M, Erkan D, Lockshin MD (2020) Reality check on antiphospholipid antibodies in COVID-19-associated coagulopathy. Arthritis Rheum 73(1):173
Zuo Y, Estes SK, Gandhi AA, Yalavarthi S, Ali RA, Shi H, Sule G, Gockman K, Madison JA, Zuo M et al (2020) Prothrombotic antiphospholipid antibodies in COVID-19. medRxiv [Preprint]. https://doi.org/10.1101/2020.06.15.20131607
Devreese KMJ, Linskens EA, Benoit D, Peperstraete H (2020) Antiphospholipid antibodies in patients with COVID-19: a relevant observation? J Thromb Haemost 18(9):2191–2201
Hasan Ali O, Bomze D, Risch L, Brugger SD, Paprotny M, Weber M, Thiel S, Kern L, Albrich WC, Kohler P et al (2020) Severe COVID-19 is associated with elevated serum IgA and antiphospholipid IgA-antibodies. Clin Infect Dis 1:ciaa1496
Utz VM, Tang J (2011) Ocular manifestations of the antiphospholipid syndrome. Br J Ophthalmol 95(4):454–459
Lima Cabrita FV, Foster CS (2005) Anticardiolipin antibodies and ocular disease. Ocul Immunol Inflamm 13(4):265–270
Miserocchi E, Baltatzis S, Foster CS (2001) Ocular features associated with anticardiolipin antibodies: a descriptive study. Am J Ophthalmol 131(4):451–456
Bolling JP, Brown GC (2000) The antiphospholipid antibody syndrome. Curr Opin Ophthalmol 11(3):211–213
Trese MG, Thanos A, Yonekawa Y, Randhawa S (2017) Optical coherence tomography angiography of Paracentral acute middle Maculopathy associated with primary Antiphospholipid syndrome. Ophthal Surg Lasers Imaging Retina 48(2):175–178
Arf S, Sayman Muslubas I, Hocaoglu M, Karacorlu M (2018) Retinal deep capillary plexus ischemia in a case with Antiphospholipid syndrome. Retinal Cases Brief Rep 12(2):106–110
Hernandez JL, Sanles I, Perez-Montes R, Martinez-Taboada VM, Olmos JM, Salmon Z, Sierra I, Escalante E, Napal JJ (2020) Antiphospholipid syndrome and antiphospholipid antibody profile in patients with retinal vein occlusion. Thromb Res 190:63–68
Sartori MT, Barbar S, Dona A, Piermarocchi S, Pilotto E, Saggiorato G, Prandoni P (2013) Risk factors, antithrombotic treatment and outcome in retinal vein occlusion: an age-related prospective cohort study. Eur J Haematol 90(5):426–433
Glueck CJ, Hutchins RK, Jurantee J, Khan Z, Wang P (2012) Thrombophilia and retinal vascular occlusion. Clin Ophthalmol 6:1377–1384
Paccalin M, Manic H, Bouche G, Landron C, Mercie M, Boinot C, Gombert JM, Roblot P, Dighiero P (2006) Antiphospholipid syndrome in patients with retinal venous occlusion. Thromb Res 117(4):365–369
Zhu W, Wu Y, Xu M, Wang JY, Meng YF, Gu Z, Lu J (2014) Antiphospholipid antibody and risk of retinal vein occlusion: a systematic review and meta-analysis. PLoS One 10(4):e0122814
Keeling D, Mackie I, Moore GW, Greer IA, Greaves M, British Committee for Standards in H (2012) Guidelines on the investigation and management of antiphospholipid syndrome. Br J Haematol 157(1):47–58
Janssen MC, den Heijer M, Cruysberg JR, Wollersheim H, Bredie SJ (2005) Retinal vein occlusion: a form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factors. Thromb Haemost 93(6):1021–1026
Rehak M, Muller M, Scholz M, Wiercinska J, Niederwieser D, Wiedemann P (2009) Antiphospholipid syndrome and retinal vein occlusion. Meta-analysis of published studies. Ophthalmologe 106(5):427–434
Tang J, Fillmore G, Nussenblatt RB (2009) Antiphospholipid antibody syndrome mimicking serpiginous choroidopathy. Ocul Immunol Inflamm 17(4):278–281
Wood EH, Wong RW (2016) Bilateral frosted branch angiitis as the presenting sign of antiphospholipid antibody syndrome. J Ophthal Inflamm Infect 6(1):20
Marie I, Herve F, Borg JY, Levesque H (2007) Retrobulbar optic neuritis revealing primary anti-phospholipid antibody syndrome. Scand J Rheumatol 36(2):156–157
Shin SY, Lee JM (2006) A case of multiple cranial nerve palsies as the initial ophthalmic presentation of antiphospholipid syndrome. Korean J Ophthalmol 20(1):76–78
Sakamoto S, Akutsu K, Kawase K, Takada T, Seyama H, Takahashi J, Miyamoto S, Nonogi H, Takeshita S (2008) Simultaneous presentations of deep vein thrombosis and cerebral sinus thrombosis in a case of primary antiphospholipid syndrome. Angiology 59(6):765–768
Dey M, Charles Bates A, McMillan P (2013) Superior ophthalmic vein thrombosis as an initial manifestation of antiphospholipid syndrome. Orbit 32(1):42–44
Finazzi G, Marchioli R, Brancaccio V, Schinco P, Wisloff F, Musial J, Baudo F, Berrettini M, Testa S, D'Angelo A et al (2005) A randomized clinical trial of high-intensity warfarin vs. conventional antithrombotic therapy for the prevention of recurrent thrombosis in patients with the antiphospholipid syndrome (WAPS). J Thromb Haemost 3(5):848–853
Crowther MA, Ginsberg JS, Julian J, Denburg J, Hirsh J, Douketis J, Laskin C, Fortin P, Anderson D, Kearon C et al (2003) A comparison of two intensities of warfarin for the prevention of recurrent thrombosis in patients with the antiphospholipid antibody syndrome. N Engl J Med 349(12):1133–1138
Chang AE, Karnell LH, Menck HR (1998) The National Cancer Data Base report on cutaneous and noncutaneous melanoma: a summary of 84,836 cases from the past decade. The American College of Surgeons Commission on Cancer and the American Cancer Society. Cancer 83(8):1664–1678
Salim S, Lam WC, Hanna W (2009) Central retinal vein occlusion with therapeutic level of anticoagulation. Case Rep Med 2009:827982
Mruthyunjaya P, Wirostko WJ, Chandrashekhar R, Stinnett S, Lai JC, Deramo V, Tang J, Dev S, Postel EA, Connor TB et al (2006) Central retinal vein occlusion in patients treated with long-term warfarin sodium (Coumadin) for anticoagulation. Retina 26(3):285–291
Chang IB, Lee JH, Kim HW (2019) Combined central retinal vein and artery occlusion in a patient with elevated level of factor VIII: a case report. Int Med Case Rep J 12:309–312
Houghton DE, Moll S (2017) Antiphospholipid antibodies. Vasc Med 22(6):545–550
Dufrost V, Risse J, Zuily S, Wahl D (2016) Direct Oral anticoagulants use in Antiphospholipid syndrome: are these drugs an effective and safe alternative to warfarin? A systematic review of the literature. Curr Rheumatol Rep 18(12):74
Espinola RG, Pierangeli SS, Gharavi AE, Harris EN (2002) Hydroxychloroquine reverses platelet activation induced by human IgG antiphospholipid antibodies. Thromb Haemost 87(3):518–522
Rand JH, Wu XX, Quinn AS, Chen PP, Hathcock JJ, Taatjes DJ (2008) Hydroxychloroquine directly reduces the binding of antiphospholipid antibody-beta2-glycoprotein I complexes to phospholipid bilayers. Blood 112(5):1687–1695
Rand JH, Wu XX, Quinn AS, Ashton AW, Chen PP, Hathcock JJ, Andree HA, Taatjes DJ (2010) Hydroxychloroquine protects the annexin A5 anticoagulant shield from disruption by antiphospholipid antibodies: evidence for a novel effect for an old antimalarial drug. Blood 115(11):2292–2299
Wallace DJ, Linker-Israeli M, Metzger AL, Stecher VJ (1993) The relevance of antimalarial therapy with regard to thrombosis, hypercholesterolemia and cytokines in SLE. Lupus 2(Suppl 1):S13–S15
Kuznik A, Bencina M, Svajger U, Jeras M, Rozman B, Jerala R (2011) Mechanism of endosomal TLR inhibition by antimalarial drugs and imidazoquinolines. J Immunol 186(8):4794–4804
Broder A, Putterman C (2013) Hydroxychloroquine use is associated with lower odds of persistently positive antiphospholipid antibodies and/or lupus anticoagulant in systemic lupus erythematosus. J Rheumatol 40(1):30–33
van den Hoogen LL, Fritsch-Stork RD, Versnel MA, Derksen RH, van Roon JA, Radstake TR (2016) Monocyte type I interferon signature in antiphospholipid syndrome is related to proinflammatory monocyte subsets, hydroxychloroquine and statin use. Ann Rheum Dis 75(12):e81
Ferrara DE, Swerlick R, Casper K, Meroni PL, Vega-Ostertag ME, Harris EN, Pierangeli SS (2004) Fluvastatin inhibits up-regulation of tissue factor expression by antiphospholipid antibodies on endothelial cells. J Thromb Haemost 2(9):1558–1563
Meroni PL, Raschi E, Testoni C, Tincani A, Balestrieri G, Molteni R, Khamashta MA, Tremoli E, Camera M (2001) Statins prevent endothelial cell activation induced by antiphospholipid (anti-beta2-glycoprotein I) antibodies: effect on the proadhesive and proinflammatory phenotype. Arthritis Rheum 44(12):2870–2878
Lopez-Pedrera C, Ruiz-Limon P, Aguirre MA, Barbarroja N, Perez-Sanchez C, Buendia P, Rodriguez-Garcia IC, Rodriguez-Ariza A, Collantes-Estevez E, Velasco F et al (2011) Global effects of fluvastatin on the prothrombotic status of patients with antiphospholipid syndrome. Ann Rheum Dis 70(4):675–682
Erkan D, Willis R, Murthy VL, Basra G, Vega J, Ruiz-Limon P, Carrera AL, Papalardo E, Martinez-Martinez LA, Gonzalez EB et al (2014) A prospective open-label pilot study of fluvastatin on proinflammatory and prothrombotic biomarkers in antiphospholipid antibody positive patients. Ann Rheum Dis 73(6):1176–1180
Looney RJ, Srinivasan R, Calabrese LH (2008) The effects of rituximab on immunocompetency in patients with autoimmune disease. Arthritis Rheum 58(1):5–14
Khattri S, Zandman-Goddard G, Peeva E (2012) B-cell directed therapies in antiphospholipid antibody syndrome--new directions based on murine and human data. Autoimmun Rev 11(10):717–722
Erkan D, Vega J, Ramon G, Kozora E, Lockshin MD (2013) A pilot open-label phase II trial of rituximab for non-criteria manifestations of antiphospholipid syndrome. Arthritis Rheum 65(2):464–471
Berman H, Rodriguez-Pinto I, Cervera R, Morel N, Costedoat-Chalumeau N, Erkan D, Shoenfeld Y, Espinosa G (2013) Catastrophic Antiphospholipid syndrome registry project G: rituximab use in the catastrophic antiphospholipid syndrome: descriptive analysis of the CAPS registry patients receiving rituximab. Autoimmun Rev 12(11):1085–1090
Schmidtko J, Peine S, El-Housseini Y, Pascual M, Meier P (2013) Treatment of atypical hemolytic uremic syndrome and thrombotic microangiopathies: a focus on eculizumab. Am J Kidney Dis 61(2):289–299
Shapira I, Andrade D, Allen SL, Salmon JE (2012) Brief report: induction of sustained remission in recurrent catastrophic antiphospholipid syndrome via inhibition of terminal complement with eculizumab. Arthritis Rheum 64(8):2719–2723
Guo RF, Ward PA (2005) Role of C5a in inflammatory responses. Annu Rev Immunol 23:821–852
Ikeda K, Nagasawa K, Horiuchi T, Tsuru T, Nishizaka H, Niho Y (1997) C5a induces tissue factor activity on endothelial cells. Thromb Haemost 77(2):394–398
Ritis K, Doumas M, Mastellos D, Micheli A, Giaglis S, Magotti P, Rafail S, Kartalis G, Sideras P, Lambris JD (2006) A novel C5a receptor-tissue factor cross-talk in neutrophils links innate immunity to coagulation pathways. J Immunol 177(7):4794–4802
Zikos TA, Sokolove J, Ahuja N, Berube C (2015) Eculizumab induces sustained remission in a patient with refractory primary catastrophic Antiphospholipid syndrome. J Clin Rheumatol 21(6):311–313
Kronbichler A, Frank R, Kirschfink M, Szilagyi A, Csuka D, Prohaszka Z, Schratzberger P, Lhotta K, Mayer G (2014) Efficacy of eculizumab in a patient with immunoadsorption-dependent catastrophic antiphospholipid syndrome: a case report. Medicine 93(26):e143
Wig S, Chan M, Thachil J, Bruce I, Barnes T (2016) A case of relapsing and refractory catastrophic anti-phospholipid syndrome successfully managed with eculizumab, a complement 5 inhibitor. Rheumatology 55(2):382–384
Lonze BE, Zachary AA, Magro CM, Desai NM, Orandi BJ, Dagher NN, Singer AL, Carter-Monroe N, Nazarian SM, Segev DL et al (2014) Eculizumab prevents recurrent antiphospholipid antibody syndrome and enables successful renal transplantation. Am J Transplant Off J Am Soc Transplant Am Soc Transplant Surg 14(2):459–465
Lonze BE, Singer AL, Montgomery RA (2010) Eculizumab and renal transplantation in a patient with CAPS. N Engl J Med 362(18):1744–1745
Canaud G, Kamar N, Anglicheau D, Esposito L, Rabant M, Noel LH, Guilbeau-Frugier C, Sberro-Soussan R, Del Bello A, Martinez F et al (2013) Eculizumab improves posttransplant thrombotic microangiopathy due to antiphospholipid syndrome recurrence but fails to prevent chronic vascular changes. Am J Transplant Off J Am Soc Transplant Am Soc Transplant Surg 13(8):2179–2185
Canaud G, Bienaime F, Tabarin F, Bataillon G, Seilhean D, Noel LH, Dragon-Durey MA, Snanoudj R, Friedlander G, Halbwachs-Mecarelli L et al (2014) Inhibition of the mTORC pathway in the antiphospholipid syndrome. N Engl J Med 371(4):303–312
Xia L, Zhou H, Wang T, Xie Y, Wang T, Wang X, Yan J (2017) Activation of mTOR is involved in anti-beta2GPI/beta2GPI-induced expression of tissue factor and IL-8 in monocytes. Thromb Res 157:103–110
Arachchillage DRJ, Laffan M (2017) Pathogenesis and management of antiphospholipid syndrome. Br J Haematol 178(2):181–195
Ostertag MV, Liu X, Henderson V, Pierangeli SS (2006) A peptide that mimics the Vth region of beta-2-glycoprotein I reverses antiphospholipid-mediated thrombosis in mice. Lupus 15(6):358–365
de la Torre YM, Pregnolato F, D'Amelio F, Grossi C, Di Simone N, Pasqualini F, Nebuloni M, Chen P, Pierangeli S, Bassani N et al (2012) Anti-phospholipid induced murine fetal loss: novel protective effect of a peptide targeting the beta2 glycoprotein I phospholipid-binding site. Implications for human fetal loss. J Autoimmun 38(2–3):J209–J215
Ioannou Y, Romay-Penabad Z, Pericleous C, Giles I, Papalardo E, Vargas G, Shilagard T, Latchman DS, Isenberg DA, Rahman A et al (2009) In vivo inhibition of antiphospholipid antibody-induced pathogenicity utilizing the antigenic target peptide domain I of beta2-glycoprotein I: proof of concept. J Thromb Haemost 7(5):833–842
Montiel-Manzano G, Romay-Penabad Z, Papalardo de Martinez E, Meillon-Garcia LA, Garcia-Latorre E, Reyes-Maldonado E, Pierangeli SS (2007) In vivo effects of an inhibitor of nuclear factor-kappa B on thrombogenic properties of antiphospholipid antibodies. Ann N Y Acad Sci 1108:540–553
Nishimura M, Nii T, Trimova G, Miura S, Umezawa K, Ushiyama A, Kubota T (2013) The NF-kappaB specific inhibitor DHMEQ prevents thrombus formation in a mouse model of antiphospholipid syndrome. J Nephropathol 2(2):114–121
Xie H, Zhou H, Wang H, Chen D, Xia L, Wang T, Yan J (2013) Anti-beta(2)GPI/beta(2)GPI induced TF and TNF-alpha expression in monocytes involving both TLR4/MyD88 and TLR4/TRIF signaling pathways. Mol Immunol 53(3):246–254