家族性地中海热

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

临床表型 50

近两年的全球研究 1,380L2

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
  Decision-Making in IVF: Restrictions on PGT-M Positive Embryo Transfers-A Qualitative Study
  Journal of genetic counseling · DOI · Europe PMC
• 2026-10
  Instagram as an Educational Platform for Familial Mediterranean Fever: A 33-Month Experience
  The Journal of rheumatology · DOI · Europe PMC
• 2026-09
  Long-term clinical course of pediatric familial Mediterranean fever with heterozygous pathogenic MEFV exon 10 variants
  European journal of pediatrics · DOI · Europe PMC
• 2026-09开放获取
  Unraveling cardiac amyloidosis in Egypt: diagnostic challenges and disease outcomes
  The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian · DOI · Europe PMC
• 2026-09
  Real-world safety of concomitant colchicine and statin therapy
  Arthritis care & research · DOI · Europe PMC
• 2026-09开放获取
  Sociodemographic and Clinical Determinants of Colchicine Adherence in Adults with Familial Mediterranean Fever: A Cross-Sectional Study
  Rheumatology and therapy · DOI · Europe PMC
• 2026-09
  Serum 14-3-3 eta levels in relation to attack status and amyloidosis in patients with Familial Mediterranean fever
  Biomarkers in medicine · DOI · Europe PMC
• 2026-09
  Effectiveness of colchicine preparation switching in pediatric colchicine-resistant familial Mediterranean fever: a real-world study
  European journal of pediatrics · DOI · Europe PMC
• 2026-09
  The impact of colchicine treatment on long-term complications of familial Mediterranean fever since its introduction in 1972: an evaluation of artificial intelligence performance
  Clinical and experimental rheumatology · DOI · Europe PMC
• 2026-09
  Maternal and paternal perceptions of child vulnerability in children with familial mediterranean fever: a cross-sectional study
  Clinical rheumatology · DOI · Europe PMC
• 2026-09
  Phoenixin-14 as a Potential Limiting Neuropeptide for Exaggerated Inflammation in Familial Mediterranean Fever and Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis: A Comparative Study
  The Journal of rheumatology · DOI · Europe PMC
• 2026-09综述开放获取
  Metabolic Complications in Autoimmune and Autoinflammatory Diseases: Pathophysiology, Clinical Implications, and Therapeutic Perspectives
  Journal of clinical medicine · DOI · Europe PMC
• 2026-09开放获取
  Proceedings of the 33rd European Paediatric Rheumatology Congress
  Pediatric rheumatology online journal · DOI · Europe PMC
• 2026-09综述开放获取
  How Organ Manifestations Beyond the Bone May Guide Risk Stratification and Treatment Decisions in Chronic Nonbacterial Osteomyelitis
  Paediatric drugs · DOI · Europe PMC
• 2026-09开放获取
  Oral aphthosis in children: baseline clinical features associated with diagnostic categories in a single-centre retrospective cohort
  European journal of pediatrics · DOI · Europe PMC
• 2026-09
  Unexpected finding of AA amyloidosis with novel genetic variants in the MEFV gene in patients undergoing kidney biopsy for proteinuria. A case series
  Journal of nephrology · DOI · Europe PMC
• 2026-09综述开放获取
  Primary Immunodeficiency Disorders and Inborn Errors of Immunity in Saudi Arabia: Current Evidence on Epidemiology, Clinical Impact, and Healthcare System Challenges
  Healthcare (Basel, Switzerland) · DOI · Europe PMC
• 2026-09
  Genotype-phenotype divergence in pediatric familial Mediterranean fever across two closely related populations: a Türkiye-Azerbaijan comparison
  The Turkish journal of pediatrics · DOI · Europe PMC
• 2026-09开放获取
  In Memoriam: Daniel L. Kastner, MD (1951–2026)
  Journal of human immunity
• 2026-09
  Familial Mediterranean fever in Azerbaijani children: a nationwide cohort study of genotype-phenotype association
  Rheumatology (Oxford, England) · 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。

• Colcrys美国2009-07-29
  colchicine
  官方记录
• ILARIS美国2016-09-23
  canakinumab
  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 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

中国境外的在招试验 57L2

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NCT07803198
  Asprosin in Behect Patients
  观察性 · 2026/09/01Assiut University
• 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

外部标识与链接