血栓性血小板减少性紫癜
Thrombotic thrombocytopenic purpura
定义 英文原文（暂无中文）
An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form.
别名
Moschcowitz病
基本事实
- 遗传方式
- 常染色体隐性、多基因/多因素
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000
相关基因 1来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ADAMTS13 | ADAM metallopeptidase with thrombospondin type 1 motif 13 | ORPHA:93583 |
临床表型 22
极常见 99–80%5
- 呼吸困难 HP:0002094
- 泛发性肌无力 HP:0003324
- 微血管病性溶血性贫血 HP:0001937
- 网织红细胞增多症 HP:0001923
- 血小板减少症 HP:0001873
常见 79–30%8
- 腹痛 HP:0002027
- 循环乳酸脱氢酶水平异常 HP:0045040
- 昏迷 HP:0001259
- 意识模糊 HP:0001289
- 腹泻 HP:0002014
- 头痛 HP:0002315
- 癫痫发作 HP:0001250
- 卒中 HP:0001297
偶见 29–5%7
- 神经系统异常 HP:0000707
- 心律失常 HP:0011675
- 发热 HP:0001945
- 血尿 HP:0000790
- 心肌梗死 HP:0001658
- 蛋白尿 HP:0000093
- 肾功能不全 HP:0000083
罕见 <4–1%2
- 急性肾损伤 HP:0001919
- 血清肌酐降低 HP:0012101
近两年的全球研究 1,599L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-08Delayed Recognition of Thrombotic Thrombocytopenic Purpura Following Platelet Transfusion: A Clinical Pitfall
- 2026-07综述Aberrant neutrophil and complement activation in thrombotic microangiopathies in pregnancy - Is there a missing link?
- 2026-07Successful Full-Term Pregnancy in Clinically Diagnosed Congenital Thrombotic Thrombocytopenic Purpura: A Case Report and Literature Review
- 2026-07Novel Use of Daratumumab in a Case of Pediatric Acquired Thrombotic Thrombocytopenic Purpura
- 2026-07Platelet Transfusion in Patients With Low ADAMTS13-Confirmed Thrombotic Thrombocytopenic Purpura Is Associated With Increased Mortality
- 2026-07Clinical Spectrum and Differential Diagnosis of Adult Thrombotic Microangiopathies: Real-World Experience from a Tertiary Referral Center
- 2026-07综述Clinical laboratory diagnostics and monitoring of ADAMTS13 deficiency and of related diseases: an integrated approach
- 2026-07Recurrent thrombocytopenia in immune thrombotic thrombocytopenic purpura during the caplacizumab era
- 2026-07临床试验Pharmacodynamics of Caplacizumab in Healthy Volunteers and Phase 2/3 Trial Patients with Immune-mediated Thrombotic Thrombocytopenic Purpura
- 2026-07Congenital Thrombotic Thrombocytopenic Purpura Presenting as Isolated Thrombocytopenia
- 2026-07病例报告Severe Immune-Mediated Thrombotic Thrombocytopenic Purpura With High-Titer ADAMTS13 Inhibitors: A Case Report
- 2026-07Clinical predictors of mortality in immune thrombotic thrombocytopenic purpura: A National Inpatient Sample analysis
- 2026-07Unbiased plasma proteomics reveals hemolysis during ADAMTS13 relapse in patients with immune TTP
- 2026-07病例报告Secondary thrombotic thrombocytopenic purpura with features of Evans syndrome in a patient with SLE
- 2026-07Multimodality imaging of myocardial injury and coronary microvascular dysfunction in congenital thrombotic thrombocytopenic purpura
- 2026-07Redefining Limits: Extracorporeal Cardiopulmonary Resuscitation in Adult Thrombotic Thrombocytopenic Purpura
- 2026-07病例报告[The diagnostic complexity of paraneoplastic thrombotic thrombocytopenic purpura]
- 2026-07Secondary thrombotic thrombocytopenic purpura following severe infection: a case report
- 2026-07病例报告Systemic lupus erythematosus complicated by thrombotic microangiopathy with atypical HUS features: A case report
- 2026-07Korean expert consensus on the management of thrombotic thrombocytopenic purpura
境外已获批用于本病的药物 5L2
欧盟 2 项、美国 3 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Cablivi欧盟2018-08-30caplacizumab官方记录
- Adzynma欧盟2024-08-01rADAMTS13官方记录
- CABLIVI美国2019-02-06Caplacizumab官方记录
- Adzynma美国2023-11-09ADAMTS13, recombinant-krhn官方记录
- Cablivi美国2025-12-23caplacizumab-yhdp官方记录
已获孤儿药资格、尚未获批的在研药物（7 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- urokinase, catalytic domain, fused with a single-chain antibody agains欧盟2024-07-25Treatment of thrombotic thrombocytopenic purpura官方记录
- Defibrotide美国1985-07-05Treatment of thrombotic thrombocytopenic purpura.官方记录
- Recombinant disintegrin and metalloprotease with thrombospondin type 1美国2008-07-29Prevention of thrombotic thrombocytopenic purpura including its congential, acquired idiopathic and secondary forms.官方记录
- S-59 treated FFP (plasma treated with amotosalen hydrochloride & ultra美国2011-02-14Treatment of thrombotic thrombocytopenic purpura官方记录
- anfibatide美国2016-03-10Treatment of thrombotic thrombocytopenic purpura.官方记录
- A (recombinant) disintegrin and metalloprotease with thrombospondin ty美国2023-09-27Treatment of Thrombotic Thrombocytopenic Purpura官方记录
- a fusion protein consisting of the catalytic domain of the human uroki美国2025-03-19treatment of thrombotic thrombocytopenic purpura官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 181L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 66
- 招募中NCT04518475Eltrombopag Combining Rituximab Versus Eltrombopag in the Management of Primary Immune Thrombocytopenia (ITP) in Adults中国研究中心 1 个：Tianjin
- 招募中NCT04993885Avatrombopag in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies中国研究中心 1 个：Tianjin
- 招募中NCT05214391A Prospective, One-arm and Open Clinical Study of Zanubrutinib in the Treatment of Immune Thrombocytopenia中国研究中心 1 个：Tianjin
- 招募中NCT05522465Short-course High-dose Prednisone and Dexamethasone in Children With ITP中国研究中心 1 个：Fujian
- 招募中NCT05571774Construction of a Database for TTP中国研究中心 1 个：Suzhou
- 招募中NCT05995054A Prospective, One-arm and Open Clinical Study of Obinutuzumab in the Treatment of Immune Thrombocytopenia中国研究中心 1 个：Tianjin
- 招募中NCT06577909Prednisone Plus IVIg vs. Prednisone for ITP During Pregnancy中国研究中心 1 个：Beijing
- 招募中NCT06107582Longitudinal Cohort of Pediatric Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Tianjin
- 招募中NCT06094881A Prospective, One-arm and Open Clinical Study of Obinutuzumab in the Treatment of Pediatric Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Tianjin
- 招募中NCT06168851Anti-CD38 Antibody Treating Pediatric Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Tianjin
- 招募中NCT06352281Efficacy and Safety of CAR-T Cells Therapy for Chronic or Refractory Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Kunming
- 招募中NCT06281327Avatrombopag in the Treatment of Pediatric Immune Thrombocytopenia中国研究中心 1 个：Tianjin
- 招募中NCT06658834A Study of Romiplostim N01 as the First-line Treatment for Newly Diagnosed Adult Patients With ITP中国研究中心 1 个：Tianjin
- 招募中NCT06478537TPO-RA Treatment on Immune Tolerance Induction of ITP Patients With Sustained Platelet Recovery After Treatment Termination中国研究中心 1 个：Beijing
- 招募中NCT06838962Anti-CD38 Antibody Treating Children With Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Tianjin
- 招募中NCT06534021IASO-782 in Autoimmune Hematological Diseases中国研究中心 2 个：Tianjin、Wuhan
- 招募中NCT06519565Safety and Efficacy of PRG-1801 in Recurrent/Refractory Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Wuhan
- 招募中NCT06787989BCMA-CD19 CCAR T Cell Treatment of Refractory Immune Thrombocytopenia Associated with Autoimmune Diseases中国研究中心 1 个：Chengdu
- 招募中NCT06544499A Study to Assess the Efficacy and Safety of Efgartigimod IV in Adult Participants With Primary Immune Thrombocytopenia中国研究中心 11 个：Beijing、Bengbu、Chengde、Hohhot、Huai'an、Huizhou 等 10 地
- 招募中NCT06727669Longitudinal Cohort of Thrombosis and Hemostasis Diseases中国研究中心 5 个：Beijing、Chongqing、Zhengzhou
- 招募中NCT06888960Safety Study of CC312 in Autoimmune Disease Patients中国研究中心 1 个：Tianjin
- 招募中NCT06686927Study on Glucocorticoid Combined With Gamma Globulin and Ropristine N01 in Treatment of Initial Severe ITP中国研究中心 1 个：Wuhan
- 招募中NCT06794008BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases中国研究中心 1 个：Beijing
- 招募中NCT06776510A Clinical Study of NAD in the Treatment of Immune Thrombocytopenia中国研究中心 1 个：Tianjin
- 招募中NCT06722235A Study of Mezagitamab in Adults With Chronic Primary Immune Thrombocytopenia中国研究中心 16 个：Beijing、Chengdu、Guangzhou、Hangzhou、Jinan、Kunming 等 16 地
另有 41 项未列出。
其他状态的试验（115 项）
- 已完成NCT01666795Autoantibody Specificity and Response to IVIG in ITP中国研究中心 1 个：Jinan
- 已完成NCT00351468EXTEND (Eltrombopag Extended Dosing Study)中国研究中心 3 个：Jiang Su Province、Shanghai、Tianjin
- 已完成NCT00370331RAISE: Randomized Placebo-Controlled Idiopathic Thrombocytopenic Purpura (ITP) Study With Eltrombopag中国研究中心 3 个：Jiang Su Province、Shanghai、Tianjin
- 已完成NCT01506414Recombinant Human Thrombopoietin in Combination With Rituximab in Immune Thrombocytopenia (ITP)中国研究中心 1 个：Jinan
- 已完成NCT03258866The Study of Different Dose Rituximab in the Treatment of ITP中国研究中心 1 个：Jinan
- 已完成NCT01356511High-dose Dexamethasone Versus Conventional Dose Prednisone for Initial Treatment of Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Jinan
- 已完成NCT01668615Efficacy of Immunomudulatory Therapy With All-trans Retinoid Acid for Adults With Chronic Immune Thrombocytopenia中国研究中心 1 个：Suzhou
- 状态未知NCT01805648Efficacy and Safety Study of Maintenance Treatment With rhTPO in Thrombocytopenic Subjects With ITP中国研究中心 1 个：Beijing
- 已撤回NCT01317966Recombinant Human Interleukin-11 Combination Low-dose Rituximab in Immune Thrombocytopenia中国研究中心 1 个：Jinan
- 已完成NCT01525836rhTPO Combining Rituximab Versus Low-dose Rituximab in Management of ITP中国研究中心 1 个：Jinan
- 已完成NCT01672151Efficacy of Rapamycin Therapy With Chronic Immune Thrombocytopenia中国研究中心 1 个：Suzhou
- 已完成NCT01667263The Combination of ATRA and Danazol as Second-line Treatment in Adult Immune Thrombocytopenia中国研究中心 5 个：Beijing、Jinan
- 已完成NCT01734044rhTPO Combining Dexamethasone Versus High-dose Dexamethasone for Initial Treatment of ITP中国研究中心 1 个：Jinan
- 已撤回NCT01734057Recombinant Human Thrombopoietin (rhTPO) Combining Rituximab Versus High-dose Dexamethasone for Initial Treatment of Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Jinan
- 已完成NCT02351622Caffeic Acid Tablets as a Second-line Therapy for ITP中国研究中心 1 个：Jinan
- 已完成NCT01719692Low-dose Rituximab Regimens in Chinese Adult Patients With Immune Thrombocytopenia中国研究中心 1 个：Tianjin
- 已撤回NCT01869049The Alteration of Macrophage Function in the Spleen Tissues From Patients With Primary Immune Thrombocytopenia中国研究中心 1 个：Jinan
- 已撤回NCT01882127All-Trans Retinoic Acid (ATRA) Combining Dexamethasone Versus High-dose Dexamethasone for Initial Treatment of Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Jinan
- 已撤回NCT01864512Alteration of Different Immune Parameters in Immune Thrombocytopenia （ITP） Patients Receiving Eltrombopag Treatment中国研究中心 1 个：Jinan
- 已撤回NCT01976195High-dose Dexamethasone Combining Thalidomide Versus Dexamethasone Mono-therapy for Management of Newly-diagnosed ITP中国研究中心 1 个：Jinan
- 已完成NCT01957176A Rollover Study to Provide Continued Treatment With Eltrombopag中国研究中心 1 个：Shanghai
- 状态未知NCT02403440A Study of Hetrombopag Olamine in Chronic Idiopathic Thrombocytopenic Purpura (ITP) Patients中国研究中心 1 个：Chengdu
- 已完成NCT02139501An Investigation of rhTPO With Different Frequencies in the Management of ITP中国研究中心 1 个：Jinan
- 已撤回NCT02137681A Multicentre Investigation of 2 Cycles Rituximab Compared With Standard Regimen in Management of Steroid-Resistant/Relapsed Immune Thrombocytopenia （ITP）中国研究中心 1 个：Jinan
- 已完成NCT02153060An Investigation of Dexamethasone With Different Doses in the Management of Immune Thrombocytopenia (ITP)中国研究中心 1 个：Jinan
- 已撤回NCT02203422A Multicenter Investigation of Recombinant Human Thrombopoietin (rhTPO) Combining Cyclosporin A Versus Cyclosporin A in Management of Steroid-Resistant/Relapsed Immune Thrombocytopenia （ITP）中国研究中心 1 个：Jinan
- 状态未知NCT02270801Recombinant Human Thrombopoietin (rhTPO) in Management of Immune Thrombocytopenia (ITP) in Pregnancy中国研究中心 1 个：Jinan
- 已完成NCT02391272A Multicenter Study on Recombinant Human Thrombopoietin in Management of ITP in Pregnancy中国研究中心 1 个：Jinan
- 已完成NCT01568333A Multi-center Study of Low-dose Decitabine for the Treatment of Immune Thrombocytopenia中国研究中心 1 个：Jinan
- 已完成NCT02556814Caffeic Acid Combining High-dose Dexamethasone in Management of ITP中国研究中心 1 个：Jinan
- 已完成NCT02868060Evaluating the Pharmacokinetics and Pharmacodynamics of Romiplostim in Patients With Immune Thrombocytopenia (ITP)中国研究中心 5 个：Beijing、Chengdu、Tianjin、Wuxi、Zhengzhou
- 已完成NCT02868099Efficacy and Safety of Romiplostim in Adult Subjects With Persistent or Chronic Immune Thrombocytopenia (ITP)中国研究中心 1 个：Beijing
- 已撤回NCT02642380Different Cycles of High-dose Dexamethasone for Initial Management of Primary Immune Thrombocytopenia (ITP)中国研究中心 1 个：Jinan
- 状态未知NCT03909763Combination of Danazole With Berberine in the Treatment of ITP中国研究中心 1 个：Beijing
- 状态未知NCT02834468DEX Combined With RTX, CSA and IVIG in the Management of Newly Diagnosed ITP Patients中国研究中心 1 个：Jinan
- 状态未知NCT02967328RP% Measurement by FCM as a Diagnostic Test for ITP中国研究中心 1 个：Jinan
- 状态未知NCT03033199Clinical Trial of Gut Microbiota in the Management of Immune Thrombocytopenia中国研究中心 1 个：Jinan
- 状态未知NCT03013114A Single-center Clinical Trial of Bortezomib in Management of Immune Thrombocytopenia (ITP)中国研究中心 1 个：Jinan
- 状态未知NCT03324087Evaluation of HRQoL in Adult With Immune Thrombocytopenia in China中国研究中心 1 个：Jinan
- 已完成NCT03222843Multicentre, Randomised Phase III Study of the Efficacy and Safety of Hetrombopag Olamine in Idiopathic Thrombocytopenic Purpura (ITP) Patient中国研究中心 3 个：Chengdu、Tianjin、Wuhan
另有 75 项未列出。
中国境外的在招试验 143L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
法国17美国13意大利10西班牙9德国8捷克5奥地利4英国4澳大利亚4土耳其4波兰4匈牙利3罗马尼亚3塞尔维亚3另有 20 个国家/地区
CT.gov 报告命中 143 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07660172A Study of Ianalumab in Addition to Eltrombopag in Pediatric Patients With Primary ITP Who Failed Corticosteroids.
- 尚未开始招募NCT07765966Phase 1 Dose Escalation Study of RXIM002 in Autoimmune Cytopenias
- 尚未开始招募NCT07738822A Phase 1b/2a Study of Velinotamig in Adults With Relapsed/Refractory ITP and wAIHA美国
- 尚未开始招募NCT07429942A Study to Learn More About the Treatment of People With Congenital Thrombotic Thrombocytopenic Purpura (cTTP) Who Received Recombinant ADAMTS13 (rADAMTS13) as Part of the Early Access Program
- 招募中NCT07421167A Study to Assess the Tolerability of Ianalumab (VAY736) With Investigator's Choice Thrombopoietin Receptor Agonist (IC TPO-RA) in Patients With Primary Immune Thrombocytopenia (ITP)美国
- 尚未开始招募NCT07700238A Study of Romiplostim Plus Predniso(lo)ne vs. Predniso(lo)ne Alone for the Treatment of Previously Untreated Primary Immune Thrombocytopenia (ITP)
- 尚未开始招募NCT07675226Bioequivalence Study of SKI-O-703 in Healthy Adults Under Fed Conditions
- 尚未开始招募NCT07669675TPO-RA Plus Baricitinib vs. TPO-RA for ITP
- 尚未开始招募NCT07680010Modeling the Early Stages of Autoimmunity Through the Study of Immunological Thrombocytopenic Purpura and Juvenile Lupus法国
- 招募中NCT07587723A Real-world Study of Treatment Patterns and Outcomes in Primary Immune Thrombocytopenia Patients Treated With Eltrombopag瑞士
- 尚未开始招募NCT07622329A Clinical Study to Evaluate JCXH-213 in the Treatment of Adults With Primary Immune Thrombocytopenia
- 尚未开始招募NCT07574073CD20 Monoclonal Antibody Combined With BTK Inhibitor for the Treatment of Refractory Immune-related Cytopenia
- 招募中NCT07549698Safety and Preliminary Efficacy of CTX112 in Adult Participants With Relapsed/Refractory Hematologic Autoimmune Disease德国、西班牙、美国
- 尚未开始招募NCT07476846rhTPO Dose Escalation vs Eltrombopag Switch in ITP
- 尚未开始招募NCT07459114TGD001 Treatment in Thrombotic Microangiopathies
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）