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家族性地中海热

Familial Mediterranean fever

ORPHA:342疾病中国目录 第1批 · 28

定义 英文原文（暂无中文）

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

别名

家族性阵发性多浆膜炎

基本事实

遗传方式
常染色体显性、常染色体隐性
发病年龄
青少年期、成年期、儿童期、婴儿期
患病率
>1 / 1000（Turkey）

相关基因 1

基因名称关联类型
MEFVMEFV innate immunity regulator, pyrinDisease-causing germline mutation(s) in

临床表型 50

极常见 99–80%6

  • 腹痛 HP:0002027
  • 关节疼痛 HP:0002829
  • 便秘 HP:0002019
  • 发热 HP:0001945
  • 肌痛 HP:0003326
  • 恶心和呕吐 HP:0002017

常见 79–30%18

  • 关节炎 HP:0001369
  • 虚弱 HP:0025406
  • 胸痛 HP:0100749
  • 腹泻 HP:0002014
  • 丹毒 HP:0001055
  • 红斑 HP:0010783
  • 疲乏 HP:0012378
  • 高纤维蛋白原血症 HP:0011899
  • 感觉迟钝 HP:0033748
  • 白细胞增多症 HP:0001974
  • 易激惹 HP:0000737
  • 口腔白斑 HP:0002745
  • 胸膜炎 HP:0002102
  • 多发性关节炎 HP:0005764
  • 食欲不振 HP:0004396
  • 蛋白尿 HP:0000093
  • 癫痫发作 HP:0001250
  • 睡眠异常 HP:0002360

偶见 29–5%25

  • 急性肝功能衰竭 HP:0006554
  • 淀粉样变 HP:0011034
  • 焦虑 HP:0000739
  • 心律失常 HP:0011675
  • 腹水 HP:0001541
  • 抑郁 HP:0000716
  • 红细胞沉降速度升高 HP:0003565
  • 胃肠道梗塞 HP:0005244
  • 肠梗阻 HP:0005214
  • 下背部疼痛 HP:0003419
  • 淋巴结肿大 HP:0002716
  • 吸收不良 HP:0002024
  • 脑膜炎 HP:0001287
  • 心肌梗死 HP:0001658
  • 肾钙质沉着症 HP:0000121
  • 肾病 HP:0000112
  • 肾病综合征 HP:0000100
  • 睾丸炎 HP:0100796
  • 骨关节炎 HP:0002758
  • 胰腺炎 HP:0001733
  • 下肢水肿 HP:0010741
  • 腹膜炎 HP:0002586
  • 皮疹 HP:0000988
  • 脾肿大 HP:0001744
  • 血管炎 HP:0002633

罕见 <4–1%1

  • 心包炎 HP:0001701

近两年的全球研究 1,278L2

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
    A genotype-first approach reveals the molecular basis of pyrin inflammasome activation
    Science immunology · DOI · Europe PMC
  • 2026-08
    An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation
    Science immunology · DOI · Europe PMC
  • 2026-08
    Outcomes of living related kidney donors of recipients with familial mediterranean fever-associated Amyloid A Amyloidosis
    Wiener klinische Wochenschrift · DOI · Europe PMC
  • 2026-08
    Clinical spectrum of pediatric patients carrying heterozygous MEFV gene variants
    European journal of pediatrics · DOI · Europe PMC
  • 2026-08
    Effectiveness and probability of full disease control with canakinumab in familial Mediterranean fever: real-world data from the AIDA Network
    Rheumatology (Oxford, England) · DOI · Europe PMC
  • 2026-08
    Shear-wave elastography-based assessment of liver, spleen, and thyroid stiffness in children with Familial Mediterranean Fever in remission: a prospective case-control study
    The British journal of radiology · DOI · Europe PMC
  • 2026-07
    Redefining the Landscape: Acquired Mutations Driving Systemic Autoinflammatory Diseases
    Arthritis & rheumatology (Hoboken, N.J.) · DOI · Europe PMC
  • 2026-07病例报告
    Diagnosis of fibrillary glomerulonephritis suggests possible atypical familial Mediterranean fever in a patient with ulcerative colitis
    CEN case reports · DOI · Europe PMC
  • 2026-07
    Disentangling the hepatic risks of familial Mediterranean Fever and colchicine: A propensity score-matched analysis of 19,231 patients
    Seminars in arthritis and rheumatism · DOI · Europe PMC
  • 2026-07
    Clinico-demographic and molecular characteristics of familial Mediterranean fever in Egypt: a multicenter study
    Scientific reports · DOI · Europe PMC
  • 2026-07
    Familial Mediterranean Fever Is Associated with Higher Atopic Morbidity: Evidence from a Country-Wide Case-Control Study
    The journal of allergy and clinical immunology. In practice · DOI · Europe PMC
  • 2026-07
    Sleep Quality and Depressive Symptoms in Clinically Stable Pediatric Familial Mediterranean Fever: Associations with Disease Severity and Developmental Factors
    Children (Basel, Switzerland) · DOI · Europe PMC
  • 2026-07
    Anakinra treatment practices in colchicine-resistant familial Mediterranean fever: a survey of pediatric rheumatologists conducted through the PReS AID-WP and the Turkish pediatric rheumatology associations
    Expert opinion on biological therapy · DOI · Europe PMC
  • 2026-07
    Instagram as an Educational Platform for Familial Mediterranean Fever: A 33-Month Experience
    The Journal of rheumatology · DOI · Europe PMC
  • 2026-07综述
    Spectrum of MEFV variants in 8,252 patients from Eastern and Southeastern Anatolia: a large single-center cohort study (2019-2026)
    Pediatric rheumatology online journal · DOI · Europe PMC
  • 2026-07
    Oral health findings and dental behaviour in children with familial mediterranean fever: a case-control study
    BMC oral health · DOI · Europe PMC
  • 2026-07
    Cardiovascular Risk and Bone Mineral Density in Children with Familial Mediterranean Fever: The Role of Disease Severity and Genetic Mutations
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-07
    Beyond genotype: clustering analysis highlights clinical heterogeneity in paediatric familial Mediterranean fever
    RMD open · DOI · Europe PMC
  • 2026-07
    Recurrent Isolated Sixth Cranial Nerve Palsy Despite Normal Neuroimaging in Familial Mediterranean Fever
    International journal of rheumatic diseases · DOI · Europe PMC
  • 2026-07
    Case Report: Acute Sarcoid Myositis Mimicking Protracted Febrile Myalgia in Familial Mediterranean Fever
    International journal of rheumatic diseases · DOI · Europe PMC

境外已获批用于本病的药物 2L2

欧盟 0 项、美国 2 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（2 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。

  • rilonacept美国2013-01-09
    Treatment of familial Mediterranean fever
    官方记录
  • goflikicept美国2024-10-07
    treatment of Familial Mediterranean Fever
    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 19L2

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 6

  • 招募中NCT07077473
    Observing the Efficacy and Safety of Different Drugs Used in Real-world Familial Mediterranean Fever (FMF) Cases
    观察性 · 2018/01/01Tongji Hospital
    中国研究中心 1 个：Wuhan
  • 招募中NCT05200715
    AutoInflammatory Disease Alliance Registry (AIDA)
    观察性 · 2020/08/06University of Siena
    中国研究中心 2 个：Beijing、Chongqing
  • 招募中NCT05845723
    Tocilizumab and Tofacitinib in the Treatment of Vascular Behçet's Syndrome
    II 期 · 干预性 · 2023/06/01Peking Union Medical College Hospital
    中国研究中心 1 个：Beijing
  • 招募中NCT06145893
    A Study of Efficacy and Safety of Hemay005 Tablets in Patients With Behçet's Disease
    III 期 · 干预性 · 2023/11/13Ganzhou Hemay Pharmaceutical Co., Ltd
    中国研究中心 22 个：Beijing、Changchun、Guangzhou、Guilin、Hangzhou、Linyi 等 16 地
  • 招募中NCT06849908
    Baricitinib in the Treatment of Intestinal Behçet's Syndrome
    II 期 · 干预性 · 2024/11/08Peking Union Medical College Hospital
    中国研究中心 1 个：Beijing
  • 招募中NCT06794008
    BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases
    II 期 · 干预性 · 2024/12/26Peking University People's Hospital
    中国研究中心 1 个：Beijing
其他状态的试验（13 项）
  • 已完成NCT03209219
    Interferon α2a Versus Cyclosporine for Refractory Behçet's Disease Uveitis
    III 期 · 干预性 · 2017/06/30Peking Union Medical College Hospital
    中国研究中心 1 个：Beijing
  • 已终止NCT03554161
    Tocilizumab for the Treatment of Refractory Behcet's Uveitis
    II 期 · 干预性 · 2018/05/10Wenjie Zheng
    中国研究中心 1 个：Beijing
  • 状态未知NCT03566615
    Does the Cap Increase the Finding of Polyps When Water Exchange Colonoscopy is Used
    不适用 · 干预性 · 2018/07/01VA Greater Los Angeles Healthcare System
    中国研究中心 1 个：Xi'an
  • 状态未知NCT03923140
    A Clinical Study of Tranilast in the Treatment of Cryopyrin-Associated Periodic Syndrome (CAPS)
    II 期 · 干预性 · 2019/05/23Peking Union Medical College Hospital
    中国研究中心 1 个：Beijing
  • 状态未知NCT04101604
    Biomarkers of Common Eye Diseases
    观察性 · 2019/09/26Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 已终止NCT04218565
    Golimumab for the Treatment of Refractory Behcet's Uveitis
    II 期 · 干预性 · 2020/02/15Wenjie Zheng
    中国研究中心 1 个：Beijing
  • 已终止NCT04609397
    A Study to Evaluate the Efficacy and Safety of Hemay005 in the Treatment of Behçet Disease
    II 期 · 干预性 · 2020/11/30Tianjin Hemay Pharmaceutical Co., Ltd
    中国研究中心 31 个：Baotou、Beijing、Bengbu、Changchun、Changsha、Chengdu 等 21 地
  • 状态未知NCT05027373
    Safety, Tolerability and Pharmacokinetic of Recombinant Anti-IL-1β Humanized Monoclonal Antibody Injection
    I 期 · 干预性 · 2021/08/13Sunshine Guojian Pharmaceutical (Shanghai) Co., Ltd.
    中国研究中心 1 个：Shanghai
  • 已完成NCT04065672
    Low-dose IL-2 Treatment on Behcet's Disease
    II 期 · 干预性 · 2021/10/12HeJing
    中国研究中心 1 个：Beijing
  • 状态未知NCT06026020
    Pathogenesis of Intestinal Behcet's Syndrome
    观察性 · 2023/09Peking Union Medical College Hospital
    中国研究中心 1 个：Beijing
  • 已完成NCT07080346
    Upadacitinib for Refractory Behcet's Syndrome
    II 期 · 干预性 · 2024/01/25Liu Tian
    中国研究中心 1 个：Beijing
  • 已完成NCT07582991
    Ustekinumab for Intestinal Behçet's Syndrome With Myelodysplastic Syndrome
    II 期 · 干预性 · 2024/03/24Liu Tian
    中国研究中心 1 个：Beijing
  • 已撤回NCT07634848
    Ivarmacitinib for Refractory Behcet's Syndrome
    II 期 · 干预性 · 2026/06/01Liu Tian
    中国研究中心 1 个：Beijing

中国境外的在招试验 57L2

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。

土耳其12法国10埃及8美国8意大利4西班牙3瑞士2加拿大2英国2荷兰2Armenia2希腊2以色列2韩国1另有 14 个国家/地区

CT.gov 报告命中 57 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT07157189
    Clinical, Laboratory, and Therapeutic Analysis of Behçet's Disease in Assiut
    观察性 · 2026/09/30Assiut University
  • 尚未开始招募NCT07737470
    Inflammatory Disease Biobank for Immunophenotyping and Cardiovascular Research
    观察性 · 2026/09/01Assistance Publique - Hôpitaux de Paris
  • 尚未开始招募NCT07617558
    Validity and Reliability of the International Physical Fitness Questionnaire and the Self-Perceived Health-Related Physical Fitness Questionnaire in Children and Adolescents With JIA and FMF
    观察性 · 2026/07/01Istanbul University - Cerrahpasa
  • 招募中NCT07702149
    Diet Restiction in Subjects With Behcet Disease and Complaint of Tinnitus
    不适用 · 干预性 · 2026/06/04Cairo University
    埃及
  • 招募中NCT07702123
    Efficacy of Physical Activity Program in Metabolic-syndrome Females With Behcet Disease
    不适用 · 干预性 · 2026/06/02Cairo University
    埃及
  • 招募中NCT07662603
    Behcet Disease Patients With Pulmonary Endoarterectomy: Outcomes of Program of Inspiratory Msucle Trianing
    不适用 · 干预性 · 2026/05/06Cairo University
    埃及
  • 尚未开始招募NCT07476625
    Efficacy and Safety of Thalidomide for Pediatric PFAPA Syndrome
    不适用 · 干预性 · 2026/04/01Wenjie Zheng
  • 招募中NCT07517250
    A Study on the Use of Canakinumab Among Familial Mediterranean Fever and Still's Disease Patients
    观察性 · 2026/03/15Novartis Pharmaceuticals
    瑞士
  • 招募中NCT06544018
    Circadian Rhythm Deregulation in Patients With CAPS
    不适用 · 干预性 · 2026/02/25Hospices Civils de Lyon
    法国
  • 招募中NCT07247266
    Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of JTE-162 in Subjects With Cryopyrin-Associated Periodic Syndrome (CAPS)
    I 期 · 干预性 · 2026/02/02Akros Pharma Inc.
    加拿大
  • 尚未开始招募NCT07439341
    AGE and CALLY Index in Familial Mediterranean Fever
    观察性 · 2026/02/01Bursa City Hospital
  • 尚未开始招募NCT07329556
    Skin Autofluorescence Assessment of Advanced Glycation End Products in Rheumatic Diseases
    观察性 · 2026/01/15Bursa City Hospital
  • 招募中NCT07375940
    Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease
    不适用 · 干预性 · 2026/01/12Meyer Children's Hospital IRCCS
    意大利、英国
  • 尚未开始招募NCT07248059
    Prevalence of Oral Findings in Egyptian Patients Diagnosed With Familial Mediterranean Fever
    观察性 · 2025/12Cairo University
    埃及
  • 招募中NCT07077304
    EACVI Study on Multimodality Cardiovascular Imaging of Inflammatory Cardiovascular Diseases
    观察性 · 2025/11/19Assistance Publique - Hôpitaux de Paris
    法国

外部标识与链接

OrphanetOMIM:134610OMIM:249100MONDO:0018088GARD:6421ICD-10 E85.0ICD-11 4A60.0ClinicalTrials.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）