真性红细胞增多症
Polycythemia vera
定义 英文原文（暂无中文）
A rare acquired myeloproliferative neoplasm characterized by an elevated absolute red blood cell mass (RBCM) caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.
别名
获得性原发性红细胞增多症
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| JAK2 | Janus kinase 2 | Disease-causing somatic mutation(s) in |
临床表型 35
极常见 99–80%16
- 腹痛 HP:0002027
- 急性白血病 HP:0002488
- 心绞痛 HP:0001681
- 瘀斑易感性 HP:0000978
- 鼻衄 HP:0000421
- 牙龈出血 HP:0000225
- 头痛 HP:0002315
- 肝脏肿大 HP:0002240
- 高血压 HP:0000822
- 骨髓增生异常 HP:0002863
- 骨髓纤维化 HP:0011974
- 红细胞增多症 HP:0001901
- 脾肿大 HP:0001744
- 耳鸣 HP:0000360
- 眩晕 HP:0002321
- 体重减轻 HP:0001824
常见 79–30%5
- 视力异常 HP:0000504
- 关节疼痛 HP:0002829
- 疲乏 HP:0012378
- 感觉异常 HP:0003401
- 呼吸功能不全 HP:0002093
偶见 29–5%14
- 动脉血栓形成 HP:0004420
- Budd-Chiari综合征 HP:0002639
- 早饱 HP:0033842
- 红斑性肢痛症 HP:0032147
- 胃肠道出血 HP:0002239
- 白细胞增多症 HP:0001974
- 间歇性跛行 HP:0004417
- 门脉高压 HP:0001409
- 门静脉血栓形成 HP:0030242
- 瘙痒 HP:0000989
- 肺栓塞 HP:0002204
- 卒中 HP:0001297
- 血小板增多症 HP:0001894
- 静脉血栓形成 HP:0004936
近两年的全球研究 3,359L2
2024/10 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。
- 2026-10开放获取Clinicopathological Features and Exploratory Outcome Associations of Bone Marrow Fibrosis in Newly Diagnosed Acute Lymphoblastic Leukemia: A Single-Center Retrospective Cohort Study
- 2026-10荟萃分析开放获取Exposure-Response Analyses of Ropeginterferon Alfa-2b in Essential Thrombocythemia
- 2026-09病例报告Masked polycythaemia vera presenting with extensive splanchnic venous thrombosis and mesenteric ischaemia
- 2026-09综述开放获取Megakaryocytes in myelofibrosis: mechanisms of fibrotic niche remodeling and therapeutic implications
- 2026-09开放获取Safety and effectiveness of endoscopic ultrasound-guided coil plus glue vs. direct endoscopic glue injection for the treatment of gastric varices: a systematic review and meta-analysis
- 2026-09综述Reassessing the clinical value of momelotinib in myelofibrosis: An ESMO-MCBS:H-based appraisal of SIMPLIFY-1 and MOMENTUM
- 2026-09开放获取Underlying thrombotic conditions in patients with splenic infarction: a 10-year retrospective analysis
- 2026-09系统综述综述开放获取Electronic patient-reported outcome platforms used in hematological cancers: a systematic review
- 2026-09系统综述开放获取ATM mutations in myelodysplastic neoplasms, acute myeloid leukemia, and myeloproliferative neoplasms: a systematic review
- 2026-09病例报告Gamma-Delta Phenotypic Evolution in Mycosis Fungoides With CD30-Positive Cutaneous Progression
- 2026-09综述Association between muscle fatigability, self-perceived fatigue and inflammation in older adults: A systematic literature review
- 2026-09开放获取Spleen-derived circulating intercellular adhesion molecule 2 promotes osteosclerosis in chronic myelofibrosis
- 2026-09开放获取Clinicopathologic Characteristics of Somatic <i>TP53</i> Mutations in Philadelphia Chromosome-Negative Myeloproliferative Neoplasms: A Systematic Review
- 2026-09综述开放获取Primary Cutaneous Lymphomas and Lymphoproliferative Disorders: Current Insights for Classification and Management
- 2026-09开放获取Ophthalmological and epidemiological profiles of Brazilian patients with philadelphia-negative Myeloproliferative neoplasms
- 2026-09综述开放获取Molecular Response, Event-Free Survival, and Treatment-Free Remission in Myeloproliferative Neoplasms: Update and Review with Insights from MPN Asia 2026
- 2026-09[Management of polycythemia vera and essential thrombocythemia in real life: A French perspective]
- 2026-09综述开放获取Non-Invasive Skin Imaging Techniques for Diagnosing and Monitoring Mycosis Fungoides: A Comprehensive Review
- 2026-09开放获取Single-Cell RNA Sequencing of Uterine Tissue from a 70-Day-Old Female Rabbit: Cellular Composition and Fibroblast-Associated Networks
- 2026-09开放获取<i>Mycobacterium avium</i> Complex Pulmonary Disease as a Clinical Signal of Host Vulnerability in Advanced Myelofibrosis
国家医保药品目录中点名本病的药品 2L2
出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 盐酸吉卡昔替尼片乙类谈判药品限中危或高危原发性骨髓纤维化(PMF)、真性红细胞增多症继发性骨髓纤维化(PPV-MF)和原发性血小板增多症继发性骨髓纤维化(PET-MF)的成人患者。
- 磷酸芦可替尼片乙类西药限：1.中危或高危的原发性骨髓纤维化(PMF)(亦称为慢性特发性骨髓纤维化)、真性红细胞增多症继发的骨髓纤维化(PPV-MF)或原发性血小板增多症继发的骨髓纤维化(PET-MF)的成年患者；2.对糖皮质激素或其他系统治疗应答不充分的12岁及以上急性移植物抗宿主病(急性GVHD)或慢性移植物抗宿主病(慢性GVHD)患者。
境外已获批用于本病的药物 9L2
欧盟 5 项、美国 4 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。
- Pegasys欧盟2002-06-20peginterferon alfa-2a官方记录
- Jakavi欧盟2012-08-23ruxolitinib官方记录
- Besremi欧盟2019-02-15ropeginterferon alfa-2b官方记录
- Omjjara欧盟2024-01-25momelotinib官方记录
- Ruxolitinib Viatris欧盟2026-09-18ruxolitinib hemifumarate官方记录
- Jakafi美国2014-12-04ruxolitinib官方记录
- Besremi美国2021-11-12ropeginterferon alfa-2b-njft官方记录
- Vonjo美国2022-02-28pacritinib官方记录
- Mimrylo美国2026-08-28rusfertide官方记录
尚未获批的在研药物（17 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。
- givinostat欧盟2010-02-03Treatment of polycythaemia vera官方记录
- Enpaxiq; Epjevy欧盟2010-08-2511-(2-pyrrolidin-1-yl-ethoxy)-14,19-dioxa-5,7,26-triaza-tetracyclo[19.3.1.1(2,6).1(8,12)…Treatment of post-polycythaemia vera myelofibrosis官方记录
- recombinant human pentraxin-2欧盟2014-11-19Treatment of post-polycythaemia vera myelofibrosis官方记录
- 1-(3-methylbutanoyl)-L-aspartyl-L-threonyl-L-histidyl-L-phenylalanyl-L欧盟2020-10-19Treatment of polycythaemia vera官方记录
- divesiran欧盟2024-12-13Treatment of polycythaemia vera官方记录
- Anagrelide美国1985-06-11Treatment of polycythemia vera.官方记录
- natural human lymphoblastoid interferon-alpha美国2002-11-18Treatment of polycythemia vera官方记录
- Adenosine triphosphate type 1 competitive inhibitor of JAK2 V617F tyro美国2011-03-03Treatment of myeloproliferative disorders (polycythemia vera, essential throbocythemia, and myelofibrosis)官方记录
- Fedratinib美国2013-03-21Treatment of polycythemia vera官方记录
- Givinostat美国2017-09-28Treatment of polycythemia vera (PV)官方记录
- Jaktinib Dihydrochloride Monohydrate美国2020-12-14Treatment of Primary Myelofibrosis (PMF) or Post-polycythemia Vera/Post-essential Thrombocythemia Myelofibrosis (Post-PV/ET MF)官方记录
- Synthetic double-stranded siRNA oligonucleotide directed against TMPRS美国2022-02-24Treatment of Polycythemia Vera (PV)官方记录
- recombinant humanized monoclonal antibody targeting transmembrane seri美国2024-02-08Treatment of Polycythemia Vera官方记录
- Sapablursen美国2024-08-05treatment of polycythemia vera (PV)官方记录
- synthetic 2-O-methoxyethyl phosphorothioate oligoribonucleotide sodium美国2024-12-19treatment of polycythemia vera官方记录
- synthetic 19-mer peptide nucleic acid oligomer consisting of two guani美国2025-08-26treatment of polycythemia vera官方记录
- recombinant fully human IgG1 monoclonal antibody美国2026-01-22treatment of polycythemia vera官方记录
数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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 21L2
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 8
- 招募中NCT05870475Pegylated Interferon α-2b in Combination With Ruxolitinib for Treating Hydroxyurea-resistant/Intolerant PV中国研究中心 1 个：Tianjin
- 招募中NCT06752746A Study of Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of 9MW3011 in Patients With Polycythemia Vera中国研究中心 6 个：Hangzhou、Nanchang、Tianjin、Wuhan、Zhengzhou
- 招募中NCT06378437A Study of GLB-001 in Patients With Myeloid Malignancies中国研究中心 14 个：Beijing、Chongqing、Hangzhou、Hefei、Nanchang、Shanghai 等 13 地
- 招募中NCT06734637Efficacy and Safety of Peginterferon in ET and PV.中国研究中心 1 个：Wuhan
- 招募中NCT07012109Study of BEBT-507 Injection in Subjects With Polycythemia Vera (PV)中国研究中心 1 个：Tianjin
- 招募中NCT07232290Phase IIa Study of Flonoltinib Maleate Tablets in the Treatment of Patients With Polycythemia Vera中国研究中心 1 个：Tianjin
- 招募中NCT07445893A Clinical Study of Gecacitinib Combined With Pegylated Interferon in Patients With PV中国研究中心 1 个：Beijing
- 招募中NCT07357727A Phase 3 Study of Pelabresib (DAK539) and Ruxolitinib in Myelofibrosis (MF)中国研究中心 17 个：Beijing、Changchun、Chongqing、Fuzhou、Guangzhou、Hangzhou 等 17 地
其他状态的试验（13 项）
- 已完成NCT01178281Study of Pomalidomide in Persons With Myeloproliferative-Neoplasm-Associated Myelofibrosis and RBC-Transfusion-Dependence中国研究中心 6 个：Beijing、Jiangsu、Shanghai、Sichuan、Tianjin
- 已完成NCT01392443Asian Phase II Study of INC424 in Patients With Primary Myelofibrosis (MF), Post-PV MF or Post-ET MF中国研究中心 10 个：Beijing、Chengdu、Guangzhou、Hangzhou、Jinan、Nanjing 等 10 地
- 已完成NCT01243944Study of Efficacy and Safety in Polycythemia Vera Subjects Who Are Resistant to or Intolerant of Hydroxyurea: JAK Inhibitor INC424 (INCB018424) Tablets Versus Best Available Care: (The RESPONSE Trial)中国研究中心 2 个：Beijing、Hangzhou
- 已完成NCT01317875Study of the JAK Inhibitor Ruxolitinib Administered Orally to Patients With Primary Myelofibrosis (PMF), Post-Polycythemia Vera-Myelofibrosis (PPV-MF) or Post-Essential Thrombocythemia-Myelofibrosis (PET-MF)中国研究中心 4 个：Beijing、Chengdu、Hangzhou、Nanjing
- 进行中·不再招募NCT02386800CINC424A2X01B Rollover Protocol中国研究中心 2 个：Beijing、Hangzhou
- 已撤回NCT02663648Cell Cycle Regulatory Gene Study in Patients With Myeloproliferative Disorders中国研究中心 1 个：Jinan
- 已完成NCT03952039An Efficacy and Safety Study of Fedratinib Compared to Best Available Therapy in Subjects With DIPSS-intermediate or High-risk Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis and Previously Treated With Ruxolitinib中国研究中心 4 个：Beijing、Guangzhou, Guangdong、Tianjin、Zhengzhou
- 已完成NCT04217993Jaktinib for the Treatment of Ruxolitinib Intolerance of Myelofibrosis中国研究中心 1 个：Hangzhou
- 进行中·不再招募NCT04279847Safety and Tolerability Study of INCB057643 in Participants With Myelofibrosis and Other Advanced Myeloid Neoplasms中国研究中心 4 个：Beijing、Guangzhou、Hangzhou、Zhengzhou
- 进行中·不再招募NCT04717414An Efficacy and Safety Study of Luspatercept (ACE-536) Versus Placebo in Subjects With Myeloproliferative Neoplasm-Associated Myelofibrosis on Concomitant JAK2 Inhibitor Therapy and Who Require Red Blood Cell Transfusions中国研究中心 20 个：Beijing、Changchun、Changsha、Guangzhou、Harbin、Kunming 等 16 地
- 已终止NCT04551066To Evaluate the Efficacy and Safety of Parsaclisib and Ruxolitinib in Participants With Myelofibrosis (LIMBER-313)中国研究中心 26 个：Baoding、Beijing、Changchun、Changsha、Fuzhou、Guangzhou 等 22 地
- 已终止NCT04551053To Evaluate Efficacy and Safety of Parsaclisib and Ruxolitinib in Participants With Myelofibrosis Who Have Suboptimal Response to Ruxolitinib (LIMBER-304)中国研究中心 29 个：Beijing、Changchun、Changzhou、Fuzhou、Guangzhou、Hangzhou 等 22 地
- 进行中·不再招募NCT05485948A Study to Access Efficacy and Safety of P1101 in Chinese PV Patients Who Are Intolerant or Resistance to HU中国研究中心 14 个：Beijing、Changsha、Chongqing、Guangzhou、Hefei、Shanghai 等 12 地
中国境外的在招试验 62L2
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。
美国27意大利9法国9德国6西班牙6英国6澳大利亚5日本4加拿大4韩国2中国香港2荷兰2波兰2比利时1另有 9 个国家/地区
CT.gov 报告命中 62 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07765602A Study of Rusfertide in Adults With Polycythemia Vera in China
- 尚未开始招募NCT07734077Revumenib in Patients With Myelofibrosis美国
- 尚未开始招募NCT07750574Flonoltinib Maleate Oral Regimens in Patients With Myelofibrosis
- 尚未开始招募NCT07722611A Clinical Trial of Bomedemstat in Participants With Polycythemia Vera (MK-3543-025)
- 尚未开始招募NCT07734272Standardized Documentation and Assessments for Polycythemia Vera: A Quality Improvement Initiative
- 尚未开始招募NCT07518940ENERGIA: Personalized Exercise Program for Fatigue in Patients With Myeloproliferative Neoplasms and Chronic Myeloid Leukemia意大利
- 招募中NCT07648030A Study of Rusfertide in Japanese Adults With Polycythemia Vera日本
- 尚未开始招募NCT07349134WELL-MPN: A Digital Lifestyle App for Patients With MPNs美国
- 招募中NCT07429266INTREPID: A Study of Sapablursen Evaluating the Safety and Efficacy in Participants With Polycythemia Vera (PV)澳大利亚、日本、美国
- 招募中NCT07379125Therapeutic RSK1 Targeting in Myelofibrosis美国
- 尚未开始招募NCT07529951Study of ZE74-0282 for Patients With JAK2 V617F Positive Blood Cancers
- 招募中NCT07441694Study of INCA036978 in Participants With Myeloproliferative Neoplasms澳大利亚、比利时、加拿大、法国、德国、意大利、日本、韩国 等 11 国
- 尚未开始招募NCT07447817Selinexor and Pacritinib in JAK Inhibitor-naïve MF Patients With Cytopenias美国
- 招募中NCT07469891A Phase 1 Study of PRT12396 in Participants With Select Myeloproliferative Neoplasms西班牙、美国
- 招募中NCT07527221Safety and Tolerability of ZE74-0282 in Healthy Volunteers澳大利亚
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）