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遗传性血管性水肿

Hereditary angioedema

ORPHA:91378疾病组中国目录 第1批 · 38

定义 英文原文（暂无中文）

Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.

别名

遗传性肺组胺介导血管性水肿

基本事实

遗传方式
常染色体显性
发病年龄
各年龄段
患病率
1-9 / 100 000（Europe）

相关基因 7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
ANGPT1angiopoietin 1ORPHA:599418
F12coagulation factor XIIORPHA:100054
HS3ST6heparan sulfate-glucosamine 3-sulfotransferase 6ORPHA:599418
KNG1kininogen 1ORPHA:599418
MYOFmyoferlinORPHA:599418
PLGplasminogenORPHA:537072
SERPING1serpin family G member 1ORPHA:100050

近两年的全球研究 969L2

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。

  • 2026-08
    Would the number of new cases of hereditary angioedema decrease due to declining fertility rates?
    Allergy, asthma, and clinical immunology : official journal of the Can · DOI · Europe PMC
  • 2026-08综述
    [Current and future therapies for bradykinin-mediated angioedema]
    Dermatologie (Heidelberg, Germany) · DOI · Europe PMC
  • 2026-08
    Sustained Effectiveness of Lanadelumab in Preventing Hereditary Angioedema Attacks: The ENABLE Study
    Clinical and translational allergy · DOI · Europe PMC
  • 2026-07
    Berotralstat During Pregnancy in a Patient With Hereditary Angioedema
    Journal of investigational allergology & clinical immunology · DOI · Europe PMC
  • 2026-07综述
    Lonvoguran ziclumeran: a CRISPR-CAS9-based gene therapy for the treatment of hereditary angioedema
    Expert opinion on investigational drugs · DOI · Europe PMC
  • 2026-07综述
    [What are angioedemas and how are they classified?]
    Dermatologie (Heidelberg, Germany) · DOI · Europe PMC
  • 2026-07
    Hereditary Angioedema: On-demand Treatment and Long-term Prophylaxis - A Global Reality
    Clinical and experimental immunology · DOI · Europe PMC
  • 2026-07
    Optimizing conversations on treatment management in hereditary angioedema: healthcare professional and patient perspectives on long-term prophylaxis and shared decision-making
    Allergy, asthma, and clinical immunology : official journal of the Can · DOI · Europe PMC
  • 2026-07病例报告
    The peri-operative management of patients with hereditary angioedema requiring dental treatment: a case series
    British dental journal · DOI · Europe PMC
  • 2026-07系统综述
    Prevalence and Incidence of Hereditary Angioedema: A Systematic Literature Review
    International archives of allergy and immunology · DOI · Europe PMC
  • 2026-07
    Clinical expressions, disease course, quality of life, and resilience in subgroups of patients with angioedema
    The World Allergy Organization journal · DOI · Europe PMC
  • 2026-07病例报告
    Living-Donor Kidney Transplantation Between Mother and Son With Clinically Confirmed Hereditary Angioedema
    Pediatric transplantation · DOI · Europe PMC
  • 2026-07系统综述
    Icatibant for acute hereditary angioedema attacks in pediatric patients: A systematized review
    Allergy and asthma proceedings · 被引 1 · DOI · Europe PMC
  • 2026-06
    Beyond scientific advances: delays, disparities, and opportunities in hereditary angioedema care across Latin America
    Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) · DOI · Europe PMC
  • 2026-06综述
    Isolated angioedema in the emergency department: rarely an allergic reaction
    The American journal of emergency medicine · DOI · Europe PMC
  • 2026-06
    Improving capability, opportunity and motivation to support hereditary angioedema patients experiencing life threatening attacks: Pilot evaluation of a video-based training tool for healthcare professionals
    International emergency nursing · DOI · Europe PMC
  • 2026-06
    Clinical experience with berotralstat in patients with hereditary angioedema: an Italian case series from the ITACA cohort
    European annals of allergy and clinical immunology · DOI · Europe PMC
  • 2026-06
    Burden of Hereditary Angioedema in Adults: Impact of Disease and Patient Characteristics
    International archives of allergy and immunology · DOI · Europe PMC
  • 2026-06
    Modeling Hereditary Angioedema With Personalized EPSC-Derived Hepatocytes: A CRISPR-Validated Platform for Mutation-Specific Mechanisms and Therapeutic Innovation
    Allergy · DOI · Europe PMC
  • 2026-06
    Psychometric validation of the Angioedema Quality of Life Questionnaire (AE-QoL) for hereditary angioedema
    Journal of patient-reported outcomes · DOI · Europe PMC

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。

  • 拉那利尤单抗注射液乙类谈判药品
    限12岁及以上患者预防遗传性血管性水肿(HAE)发作。
  • 醋酸艾替班特注射液乙类西药
    限成人、青少年和≥2 岁儿童的遗传性血管性水肿(HAE)急性发作。

境外已获批用于本病的药物 11L2

欧盟 8 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。

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。

  • R)-1-(3-(aminomethyl) phenyl)-N-(5-((3-cyanophenyl)(cyclopropylmethyla欧盟2018-06-27
    Treatment of hereditary angioedema
    官方记录
  • messenger RNA encoding Cas9, single guide RNA targeting the human KLKB欧盟2023-11-08
    Treatment of hereditary angioedema
    官方记录
  • navenibart欧盟2024-11-10
    Treatment of hereditary angioedema
    官方记录
  • adeno-associated virus serotype 5 (AAV5) vector containing the hSERPIN美国2021-12-20
    Treatment of hereditary angioedema
    官方记录
  • lipid nanoparticle encapsulating single guide RNA (G012267) targeting 美国2022-09-01
    Treatment of hereditary angioedema
    官方记录
  • navenibart美国2024-09-26
    treatment of hereditary angioedema
    官方记录
  • small interfering RNA duplex oligonucleotide designed to cleave prekal美国2025-10-02
    treatment of hereditary angioedema
    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 6L2

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 3

  • 招募中NCT06679881
    Long-Term, Open-label Study of Oral Deucrictibant Extended-Release Tablet for Prophylaxis Against Angioedema Attacks in Adolescents and Adults With HAE
    III 期 · 干预性 · 2025/02/01Pharvaris Netherlands B.V.
    中国研究中心 1 个：Beijing
  • 招募中NCT06960213
    STOP-HAE: A Phase 3 Study of ADX-324 in HAE
    III 期 · 干预性 · 2025/08/28ADARx Pharmaceuticals, Inc.
    中国研究中心 3 个：Beijing、Harbin、Zhengzhou
  • 招募中NCT07428499
    Phase 3 Extension Study of ADX-324 in Participants With Hereditary Angioedema (HAE)
    III 期 · 干预性 · 2026/04/02ADARx Pharmaceuticals, Inc.
    中国研究中心 3 个：Beijing、Harbin、Zhengzhou
其他状态的试验（3 项）
  • 已完成NCT05460325
    A Study of Lanadelumab (SHP643) in Chinese Participants With Hereditary Angioedema (HAE)
    III 期 · 干预性 · 2022/06/22Takeda
    中国研究中心 4 个：Beijing、Guangzhou、Wuhan、Yantai
  • 已完成NCT06346899
    A Study of Lanadelumab (Takhzyro) and Icatibant (Firazyr®) in Persons With HAE in China
    观察性 · 2024/07/20Takeda
    中国研究中心 13 个：Chengdu、Fuzhou、Guangzhou、Hangzhou、Jinan、Kunming 等 12 地
  • 进行中·不再招募NCT06846398
    A Phase 2 in Adult Subjects With Hereditary Angioedema
    II 期 · 干预性 · 2025/02/28Shanghai Argo Biopharmaceutical Co., Ltd.
    中国研究中心 6 个：Beijing、Chengdu、Kunming、Lanzhou、Wuhan、Yantai

中国境外的在招试验 27L2

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9意大利4西班牙3波兰2奥地利2保加利亚2加拿大2法国2德国2荷兰2土耳其2英国2阿根廷2Armenia2另有 15 个国家/地区

CT.gov 报告命中 27 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT07218393
    A Study About the Diagnosis and Management of Hereditary Angioedema (HAE) in Egypt
    观察性 · 2026/12/01Takeda
    埃及
  • 尚未开始招募NCT07445087
    A Study of Takhzyro in Teenagers and Adults With Hereditary Angioedema (HAE) in South Korea
    观察性 · 2026/10/01Takeda
  • 尚未开始招募NCT07654829
    Safety and Effectiveness of Sebetralstat (KVD900) for Short-Term Prophylaxis Before Procedures in People With Hereditary Angioedema (KONTROL)
    IV 期 · 干预性 · 2026/07/31KalVista Pharmaceuticals, Ltd.
    美国
  • 招募中NCT07293364
    A Study to Learn About the C1-Inhibitor Function as Diagnosis for Hereditary Angioedema
    不适用 · 干预性 · 2026/05/12Takeda
    Algeria
  • 招募中NCT07263685
    A Study of Lanadelumab in Teenagers and Adults With Hereditary Angioedema (HAE) in the Kingdom of Saudi Arabia
    观察性 · 2026/04/30Takeda
    沙特阿拉伯
  • 招募中NCT07298447
    Donidalorsen Treatment in Children With Hereditary Angioedema
    III 期 · 干预性 · 2026/04/21Ionis Pharmaceuticals, Inc.
    意大利、波兰、西班牙、美国
  • 招募中NCT07448181
    Real-life Ecological Momentary Assessment of Lived Burden in Hereditary AngioEdema
    观察性 · 2026/02/23Istituti Clinici Scientifici Maugeri SpA
    意大利
  • 招募中NCT07266805
    Study of Oral Deucrictibant XR Tablet for Prophylaxis and Deucrictibant IR Capsule for On-Demand Treatment of Angioedema Attacks in Adults With Acquired Angioedema Due to C1 Inhibitor Deficiency
    III 期 · 干预性 · 2025/10/16Pharvaris Netherlands B.V.
    澳大利亚、奥地利、保加利亚、加拿大、法国、德国、匈牙利、意大利 等 16 国
  • 招募中NCT06919003
    Improving Deceased-Donor Kidney Transplant Outcomes Via a Single Intragraft Injection of C1 Esterase Inhibitor (IMPROVE TRIAL)
    II 期 · 干预性 · 2025/09/22National Institute of Allergy and Infectious Diseases (NIAID)
    美国
  • 招募中NCT07021495
    SKIN Disease Profiling by an Exploratory, pRospective, Biomarker Study in dermatoloGY Practice (SKINERGY)
    观察性 · 2025/07/29Leiden University Medical Center
    荷兰
  • 招募中NCT07001280
    A Study Investigating the Effectiveness and Safety of Garadacimab for Treating Patients With Hereditary Angioedema (HAE)
    观察性 · 2025/07/21CSL Behring
    奥地利、加拿大、德国、英国、美国
  • 招募中NCT07046806
    Oral Deucrictibant for Prophylactic and Acute Treatment in Hereditary Angioedema Patients
    I 期、II 期 · 干预性 · 2025/03/10Institute for Asthma and Allergy
    美国
  • 尚未开始招募NCT06811467
    Suicide Ideation in Hereditary Angioedema
    观察性 · 2025/03/01Ivan Cherrez Ojeda
  • 招募中NCT06782230
    ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
    观察性 · 2024/08/31IRCCS Policlinico S. Donato
    意大利
  • 招募中NCT06573723
    Institutional Registry of Rare Diseases
    观察性 · 2024/07/01Hospital Italiano de Buenos Aires
    阿根廷

外部标识与链接

OrphanetOMIM:106100OMIM:610618OMIM:619360MONDO:0019623GARD:5979ICD-11 4A00.14ClinicalTrials.gov 检索

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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）