血栓性血小板减少性紫癜治疗及预后分析
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摘要
血栓性血小板减少性紫癜(thrombotic thrombocytopenic purpura,TTP)是一种以微小血管形成血栓栓塞进而导致血小板减少为特点的血栓性微血管疾病。目前认为TTP的发病机制与vWF多聚体的特异性蛋白酶缺乏密切相关。TTP的临床表现多样,诊断困难,且病死率极高(可达90%以上)。尽管血浆置换疗法的出现极大程度地降低了TTP的致死率,但该病的复发率仍旧较高。
Thrombotic thrombocytopenic purpura(TTP) is a thrombotic microvascular disease characterized by thromboembolism caused by microvascular formation and thrombocytopenia. It is currently believed that the pathogenesis of TTP is closely related to the lack of specific proteases of vWF multimers. The clinical manifestations of TTP are diverse, the diagnosis is difficult, and the mortality rate is extremely high(up to 90%or more). Although the emergence of plasmapheresis therapy has greatly reduced the mortality rate of TTP, the recurrence rate of the disease is still high.
Thrombotic thrombocytopenic purpura(TTP) is a thrombotic microvascular disease characterized by thromboembolism caused by microvascular formation and thrombocytopenia. It is currently believed that the pathogenesis of TTP is closely related to the lack of specific proteases of vWF multimers. The clinical manifestations of TTP are diverse, the diagnosis is difficult, and the mortality rate is extremely high(up to 90%or more). Although the emergence of plasmapheresis therapy has greatly reduced the mortality rate of TTP, the recurrence rate of the disease is still high.
引文
1.JolyBS,CoppoP,VeyradierA.Thromboticthrombocytopenic purpura[J]. Blood, 2017, 129(21):2836-2846.
2 .MoakeJL,RudyCK,TrollJH,etal.Unusuallylargeplasma factorVIII:vonWillebrandfactormultimersinchronicrelapsing thromboticthrombocytopenicpurpura[J].NEnglJMed,1982,307(23):1432-1435.
3 .Furlan M, Robles R, Solenthaler M, et al. Acquired deficiency of von Willebrandfactor-cleavingproteaseinapatientwiththrombotic thrombocytopenic purpura[J]. Blood, 1998, 91(8):2839-2846.
4 .中华医学会血液学分会血栓与止血学组.血栓性血小板减少性紫癜诊断与治疗中国专家共识(2012年版)[J].中华血液学杂志,2012, 33(11):983-984.ThrombusandHemostasisGroup,HematologyBranch,Chinese Medical Association. Chinese expert consensus on the diagnosis and treatment of thrombotic thrombocytopenic purpura(2012 edition)[J].Chinese Journal of Hematology, 2012, 33(11):983-984.
5 .徐焕铭,樊华.血栓性血小板减少性紫癜诊治现状及展望[J].中国实用内科杂志, 2017, 37(2):99-103.XU Huanming, FAN Hua. Present status and prospect of diagnosis and treatment in thrombotic thrombocytopenic purpura[J]. Chinese Journal of Practical Internal Medicine, 2017, 37(2):99-103.
6 .伏杭江,黄先华,马元.血栓性血小板减少性紫癜研究进展[J].人民军医, 2014, 42(12):1359-1361.FU Hangjiang, HUANG Xianhua, MA Yuan. Progress in research on thrombotic thrombocytopenic purpura[J]. People’s Military Surgeon,2014, 42(12):1359-1361.
7 .Matsumoto M, Fujimura Y, Wada H, et al. Diagnostic and treatment guidelines for thrombotic thrombocytopenic purpura(TTP)2017 in Japan[J]. Int J Hematol, 2017, 106(Suppl 1):3-15.
8 .MarnPernatA,Buturovi?-PonikvarJ,KovacJ,etal.Membrane plasma exchange for the treatment of thrombotic thrombocytopenic purpura[J]. Ther Apher Dial, 2009, 13(4):318-321.
9 .刘建强,马莉,叶世辉,等.冷上清在治疗TTP患者中的作用[J].西安文理学院学报:自然科学版, 2011, 14(4):6-9.LIUJiangqiang,MALi,YEShihui,etal.Theroleofplasma cryoprecipitate in the treatment of TTP patients[J]. Journal of Xi’an University(Natural Science Edition), 2011, 14(4):6-9.
10 .HartD,SayerR,MillerR,etal.Humanimmunodeficiencyvirus associatedthromboticthrombocytopenicpurpura--favourable outcome with plasma exchange and prompt initiation of highly active antiretroviral therapy[J]. Br J Haematol, 2011, 153(4):515-519.
11 .Balduini CL, Gugliotta L, Luppi M, et al. High versus standard dose methylprednisoloneintheacutephaseofidiopathicthrombotic thrombocytopenic purpura:a randomized study[J]. Ann Hematol,2010, 89(6):591-596.
12 .张军,顾健.血栓性血小板减少性紫癜发病机制及治疗进展[J].临床血液学杂志, 2016(1):73-76.ZHANGJun,GUJian.Progressofpathogenesisandtreatment ofthromboticthrombocytopenicpurpura[J].JournalofClinical Hematology, 2016(1):73-76.
13 .ChenH,FuA,JingW,etal.Rituximabasfirst-linetreatmentfor acquired thrombotic thrombocytopenic purpura[J]. J Int Med Res,2017, 45(3):1253-1260.
14 .ScullyM,HuntBJ,BenjaminS,etal.Guidelinesonthediagnosis andmanagementofthromboticthrombocytopenicpurpuraand otherthromboticmicroangiopathies[J].BrJHaematol,2012,158(3):323-335.
15 .Omri HE, Taha RY, Gamil A, et al. Efficacy and safety of rituximab for refractory and relapsing thrombotic thrombocytopenic purpura:a cohort of 10 cases[J]. Clin Med Insights Blood Disord, 2015, 8:1-7.
16 .HieM,GayJ,GalicierL,etal.Preemptiverituximabinfusions after remission efficiently prevent relapses in acquired thrombotic thrombocytopenic purpura[J]. Blood, 2014, 124(2):204-210.
17 .Tanhehco YC, Arepally G, Metjian A. Novel therapeutic approaches for thrombotic thrombocytopenic purpura[J]. Curr Opin Hematol, 2017,24(6):521-528.
18 .包海燕,乔渝森,吴德沛.获得性血栓性血小板减少性紫癜的研究进展[J].中华血液学杂志, 2017, 38(5):440-443.BAOHaiyan,QIAOYusen,WUDepei,Progressofacquired thromboticthrombocytopenicpurpura[J].ChineseJournalof Hematology, 2017, 38(5):440-443.
19 .Yoshii Y, Fujimura Y, Bennett CL, et al. Implementation of a rapid assay of ADAMTS13 activity was associated with improved 30-day survival rate in patients with acquired primary thrombotic thrombocytopenic purpurawhoreceivedplatelettransfusions[J].Transfusion,2017,57(8):2045-2053.
20 .Pandey MR, Vachhani P, Ontiveros EP. Remission of severe, relapsed,and refractory TTP after multiple cycles of bortezomib[J]. Case Rep Hematol, 2017, 2017:9681832.
21 .Patriquin CJ, Thomas MR, Dutt T, et al. Bortezomib in the treatment of refractory thrombotic thrombocytopenic purpura[J]. Br J Haematol,2016, 173(5):779-785.
22 .Zhou W, Dong L, Ginsburg D, et al. Enzymatically active ADAMTS13variants are not inhibited by anti-ADAMTS13 autoantibodies:a novel therapeutic strategy?[J]. J Biol Chem, 2005, 280(48):39934.
23 .SadlerJE.Pathophysiologyofthromboticthrombocy topenic purpura[J]. Blood, 2017, 130(10):1181.
24 .Scully M, Kn?bl P, Kentouche K, et al. Clinical trials and observations:recombinantADAMTS-13:first-in-humanpharmacokineticsand safety in congenital thrombotic thrombocytopenic purpura[J]. Blood,2017, 130(19):2055.
25 .Kopi?A, Benamara K, Piskernik C, et al. Preclinical assessment of anewrecombinantADAMTS-13drugproduct(BAX930)forthe treatment of thrombotic thrombocytopenic purpura[J]. J Thromb Haemost, 2016, 14(7):1410-1419.
26 .Kn?bl P. New treatment options for thrombotic thrombocytopenic purpura[J]. H?mostaseologie, 2017, 37(3):211-215.
27 .Peyvandi F, Scully M, Kremer Hovinga JA, et al. Caplacizumab reduces thefrequencyofmajorthromboembolicevents,exacerbations,and death in patients with acquired thrombotic thrombocytopenic purpura[J]. J Thromb Haemost, 2017, 15(7):1448-1452.
28 .TersteegC,RoodtJ,VanRensburgWJ,etal.N-acetylcysteinein preclinical mouse and baboon models of thrombotic thrombocytopenic purpura[J]. Blood, 2017; 129(8):1030-1038.
29 .Zheng L, Mao Y, Abdelgawwad MS, et al. Therapeutic efficacy of the platelet glycoprotein Ib antagonist anfibatide in murine models of thrombotic thrombocytopenic purpura[J]. Blood Advances, 2016,1(1):75.
30 .RuraliE,BanterlaF,DonadelliR,etal.ADAMTS13secretion andresidualactivityamongpatientswithcongenitalthrombotic thrombocytopenic purpura with and without renal impairment[J].Clin J Am Soc Nephrol, 2015, 10(11):2002-2012.
31 .EdgarCE,TerrellDR,VeselySK,etal.Ribosomalandimmune transcripts associate with relapse in acquired ADAMTS13-deficient thrombotic thrombocytopenic purpura[J]. PLoS One, 2015, 10(2):e0117614.
32 .AlwanF,VendraminC,VanhoorelbekeK,etal.Presenting ADAMTS13antibodyandantigenlevelspredictprognosisin immune-mediated thrombotic thrombocytopenic purpura[J]. Blood,2017, 130(4):466-471.
33 .Deford CC, Reese JA, Schwartz LH, et al. Multiple major morbidities and increased mortality during long-term follow-up after recovery from thrombotic thrombocytopenic purpura[J]. Blood, 2013, 122(12):2023-2029.
34 .Zafrani L, Mariotte E, Darmon M, et al. Acute renal failure is prevalent in patients with thrombotic thrombocytopenic purpura associated with low plasma ADAMTS13 activity[J]. J Thromb Haemost, 2015,13(8):1526.
35 .Little DJ, Mathias LM, Page EE, et al. Long-term kidney outcomes in patients with acquired thrombotic thrombocytopenic purpura[J].Kidney Int Rep, 2017, 2(6):1088-1095.
36 .Roriz M, Landais M, Desprez J, et al. Risk factors for autoimmune diseases development after thrombotic thrombocytopenic purpura[J].Medicine, 2015, 94(42):e1598.
37 .Hoirisch-Clapauch S, Nardi AE. A role for tissue plasminogen activator in thrombotic thrombocytopenic purpura[J]. Med Hypotheses, 2014,83(6):747-750.
38 .Goel R, King KE, Takemoto CM, et al. Prognostic risk-stratified score forpredictingmortalityinhospitalizedpatientswiththrombotic thrombocytopenic purpura:nationally representative data from 2007to 2012[J]. Transfusion, 2016, 56(6):1451-1458.
39 .Williams PJ, Pearce WA, Smith JM, et al. Profound visual recovery at16 months after resolution of serous retinal detachments secondary to thrombotic thrombocytopenic purpura:case report and literature review[J]. Retin Cases Brief Rep, 2018,[Epub ahead of print].
2 .MoakeJL,RudyCK,TrollJH,etal.Unusuallylargeplasma factorVIII:vonWillebrandfactormultimersinchronicrelapsing thromboticthrombocytopenicpurpura[J].NEnglJMed,1982,307(23):1432-1435.
3 .Furlan M, Robles R, Solenthaler M, et al. Acquired deficiency of von Willebrandfactor-cleavingproteaseinapatientwiththrombotic thrombocytopenic purpura[J]. Blood, 1998, 91(8):2839-2846.
4 .中华医学会血液学分会血栓与止血学组.血栓性血小板减少性紫癜诊断与治疗中国专家共识(2012年版)[J].中华血液学杂志,2012, 33(11):983-984.ThrombusandHemostasisGroup,HematologyBranch,Chinese Medical Association. Chinese expert consensus on the diagnosis and treatment of thrombotic thrombocytopenic purpura(2012 edition)[J].Chinese Journal of Hematology, 2012, 33(11):983-984.
5 .徐焕铭,樊华.血栓性血小板减少性紫癜诊治现状及展望[J].中国实用内科杂志, 2017, 37(2):99-103.XU Huanming, FAN Hua. Present status and prospect of diagnosis and treatment in thrombotic thrombocytopenic purpura[J]. Chinese Journal of Practical Internal Medicine, 2017, 37(2):99-103.
6 .伏杭江,黄先华,马元.血栓性血小板减少性紫癜研究进展[J].人民军医, 2014, 42(12):1359-1361.FU Hangjiang, HUANG Xianhua, MA Yuan. Progress in research on thrombotic thrombocytopenic purpura[J]. People’s Military Surgeon,2014, 42(12):1359-1361.
7 .Matsumoto M, Fujimura Y, Wada H, et al. Diagnostic and treatment guidelines for thrombotic thrombocytopenic purpura(TTP)2017 in Japan[J]. Int J Hematol, 2017, 106(Suppl 1):3-15.
8 .MarnPernatA,Buturovi?-PonikvarJ,KovacJ,etal.Membrane plasma exchange for the treatment of thrombotic thrombocytopenic purpura[J]. Ther Apher Dial, 2009, 13(4):318-321.
9 .刘建强,马莉,叶世辉,等.冷上清在治疗TTP患者中的作用[J].西安文理学院学报:自然科学版, 2011, 14(4):6-9.LIUJiangqiang,MALi,YEShihui,etal.Theroleofplasma cryoprecipitate in the treatment of TTP patients[J]. Journal of Xi’an University(Natural Science Edition), 2011, 14(4):6-9.
10 .HartD,SayerR,MillerR,etal.Humanimmunodeficiencyvirus associatedthromboticthrombocytopenicpurpura--favourable outcome with plasma exchange and prompt initiation of highly active antiretroviral therapy[J]. Br J Haematol, 2011, 153(4):515-519.
11 .Balduini CL, Gugliotta L, Luppi M, et al. High versus standard dose methylprednisoloneintheacutephaseofidiopathicthrombotic thrombocytopenic purpura:a randomized study[J]. Ann Hematol,2010, 89(6):591-596.
12 .张军,顾健.血栓性血小板减少性紫癜发病机制及治疗进展[J].临床血液学杂志, 2016(1):73-76.ZHANGJun,GUJian.Progressofpathogenesisandtreatment ofthromboticthrombocytopenicpurpura[J].JournalofClinical Hematology, 2016(1):73-76.
13 .ChenH,FuA,JingW,etal.Rituximabasfirst-linetreatmentfor acquired thrombotic thrombocytopenic purpura[J]. J Int Med Res,2017, 45(3):1253-1260.
14 .ScullyM,HuntBJ,BenjaminS,etal.Guidelinesonthediagnosis andmanagementofthromboticthrombocytopenicpurpuraand otherthromboticmicroangiopathies[J].BrJHaematol,2012,158(3):323-335.
15 .Omri HE, Taha RY, Gamil A, et al. Efficacy and safety of rituximab for refractory and relapsing thrombotic thrombocytopenic purpura:a cohort of 10 cases[J]. Clin Med Insights Blood Disord, 2015, 8:1-7.
16 .HieM,GayJ,GalicierL,etal.Preemptiverituximabinfusions after remission efficiently prevent relapses in acquired thrombotic thrombocytopenic purpura[J]. Blood, 2014, 124(2):204-210.
17 .Tanhehco YC, Arepally G, Metjian A. Novel therapeutic approaches for thrombotic thrombocytopenic purpura[J]. Curr Opin Hematol, 2017,24(6):521-528.
18 .包海燕,乔渝森,吴德沛.获得性血栓性血小板减少性紫癜的研究进展[J].中华血液学杂志, 2017, 38(5):440-443.BAOHaiyan,QIAOYusen,WUDepei,Progressofacquired thromboticthrombocytopenicpurpura[J].ChineseJournalof Hematology, 2017, 38(5):440-443.
19 .Yoshii Y, Fujimura Y, Bennett CL, et al. Implementation of a rapid assay of ADAMTS13 activity was associated with improved 30-day survival rate in patients with acquired primary thrombotic thrombocytopenic purpurawhoreceivedplatelettransfusions[J].Transfusion,2017,57(8):2045-2053.
20 .Pandey MR, Vachhani P, Ontiveros EP. Remission of severe, relapsed,and refractory TTP after multiple cycles of bortezomib[J]. Case Rep Hematol, 2017, 2017:9681832.
21 .Patriquin CJ, Thomas MR, Dutt T, et al. Bortezomib in the treatment of refractory thrombotic thrombocytopenic purpura[J]. Br J Haematol,2016, 173(5):779-785.
22 .Zhou W, Dong L, Ginsburg D, et al. Enzymatically active ADAMTS13variants are not inhibited by anti-ADAMTS13 autoantibodies:a novel therapeutic strategy?[J]. J Biol Chem, 2005, 280(48):39934.
23 .SadlerJE.Pathophysiologyofthromboticthrombocy topenic purpura[J]. Blood, 2017, 130(10):1181.
24 .Scully M, Kn?bl P, Kentouche K, et al. Clinical trials and observations:recombinantADAMTS-13:first-in-humanpharmacokineticsand safety in congenital thrombotic thrombocytopenic purpura[J]. Blood,2017, 130(19):2055.
25 .Kopi?A, Benamara K, Piskernik C, et al. Preclinical assessment of anewrecombinantADAMTS-13drugproduct(BAX930)forthe treatment of thrombotic thrombocytopenic purpura[J]. J Thromb Haemost, 2016, 14(7):1410-1419.
26 .Kn?bl P. New treatment options for thrombotic thrombocytopenic purpura[J]. H?mostaseologie, 2017, 37(3):211-215.
27 .Peyvandi F, Scully M, Kremer Hovinga JA, et al. Caplacizumab reduces thefrequencyofmajorthromboembolicevents,exacerbations,and death in patients with acquired thrombotic thrombocytopenic purpura[J]. J Thromb Haemost, 2017, 15(7):1448-1452.
28 .TersteegC,RoodtJ,VanRensburgWJ,etal.N-acetylcysteinein preclinical mouse and baboon models of thrombotic thrombocytopenic purpura[J]. Blood, 2017; 129(8):1030-1038.
29 .Zheng L, Mao Y, Abdelgawwad MS, et al. Therapeutic efficacy of the platelet glycoprotein Ib antagonist anfibatide in murine models of thrombotic thrombocytopenic purpura[J]. Blood Advances, 2016,1(1):75.
30 .RuraliE,BanterlaF,DonadelliR,etal.ADAMTS13secretion andresidualactivityamongpatientswithcongenitalthrombotic thrombocytopenic purpura with and without renal impairment[J].Clin J Am Soc Nephrol, 2015, 10(11):2002-2012.
31 .EdgarCE,TerrellDR,VeselySK,etal.Ribosomalandimmune transcripts associate with relapse in acquired ADAMTS13-deficient thrombotic thrombocytopenic purpura[J]. PLoS One, 2015, 10(2):e0117614.
32 .AlwanF,VendraminC,VanhoorelbekeK,etal.Presenting ADAMTS13antibodyandantigenlevelspredictprognosisin immune-mediated thrombotic thrombocytopenic purpura[J]. Blood,2017, 130(4):466-471.
33 .Deford CC, Reese JA, Schwartz LH, et al. Multiple major morbidities and increased mortality during long-term follow-up after recovery from thrombotic thrombocytopenic purpura[J]. Blood, 2013, 122(12):2023-2029.
34 .Zafrani L, Mariotte E, Darmon M, et al. Acute renal failure is prevalent in patients with thrombotic thrombocytopenic purpura associated with low plasma ADAMTS13 activity[J]. J Thromb Haemost, 2015,13(8):1526.
35 .Little DJ, Mathias LM, Page EE, et al. Long-term kidney outcomes in patients with acquired thrombotic thrombocytopenic purpura[J].Kidney Int Rep, 2017, 2(6):1088-1095.
36 .Roriz M, Landais M, Desprez J, et al. Risk factors for autoimmune diseases development after thrombotic thrombocytopenic purpura[J].Medicine, 2015, 94(42):e1598.
37 .Hoirisch-Clapauch S, Nardi AE. A role for tissue plasminogen activator in thrombotic thrombocytopenic purpura[J]. Med Hypotheses, 2014,83(6):747-750.
38 .Goel R, King KE, Takemoto CM, et al. Prognostic risk-stratified score forpredictingmortalityinhospitalizedpatientswiththrombotic thrombocytopenic purpura:nationally representative data from 2007to 2012[J]. Transfusion, 2016, 56(6):1451-1458.
39 .Williams PJ, Pearce WA, Smith JM, et al. Profound visual recovery at16 months after resolution of serous retinal detachments secondary to thrombotic thrombocytopenic purpura:case report and literature review[J]. Retin Cases Brief Rep, 2018,[Epub ahead of print].