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家族性地中海热

最后审阅: 12 Nov 2024
最后更新: 31 Aug 2022

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 周期性发热
  • 腹痛
  • 大便习惯改变
  • 急性关节疼痛/肿胀
  • 秋水仙碱疗效
  • 丹毒样皮损
完整详情

其他诊断因素

  • 胸膜炎性胸痛
  • 急性肌痛
  • 肝脾肿大
  • 阑尾切除史
  • 腹部瘢痕
  • 慢性关节痛
  • 胸膜摩擦音
  • 慢性肌痛/纤维肌痛
  • 头痛
  • 颈项强直
  • 畏光
  • 急性阴囊疼痛 + 肿胀
  • 视觉障碍
完整详情

危险因素

  • 地中海血统
  • 年龄< 20 岁
  • 男性
  • 阳性家族史
  • MEFV 基因突变
  • 原发地:亚美尼亚、土耳其或地中海盆地
  • 心理应激
  • 病毒性疾病
  • 强体力活动
  • 过度劳累
  • 使用血管收缩性拟交感神经药
完整详情

诊断性检查

首要检查

  • 全血细胞计数 (FBC)
  • 红细胞沉降率
  • C 反应蛋白 (CRP)
  • 血清纤维蛋白原
  • 血清淀粉样蛋白 A
  • 肝功能检查 (LFT)
  • 尿液分析
完整详情

需考虑的检查

  • LDH
  • 胸部 X 线检查
  • 关节 X 线
  • 腹部 CT 检查
  • 胸部 CT
  • 超声心动图
  • 关节 MRI
  • 基因检测
完整详情

治疗流程

急症处理

急性发作

持续性治疗

确诊的 FMF

撰稿人

作者

Erkan Demirkaya, MD, MSc, FRCPC

Professor of Paediatrics

Schulich School of Medicine & Dentistry

Department of Paediatrics

Division of Paediatric Rheumatology

University of Western Ontario

London

ON

Canada

利益声明

ED is an author of a number of references cited in this topic.

鸣谢

Dr Erkan Demirkaya would like to gratefully acknowledge Dr Véronique Hentgen and Dr Ghaith Mitri, the previous contributors to this topic.

利益声明

VH has been reimbursed by Novartis Pharmaceuticals (the manufacturer of canakinumab) for attending several conferences, has received consulting fees from Novartis Pharmaceuticals, and is an author of references cited in this topic. GM declares that he has no competing interests.

同行评议者

M. Eric Gershwin, MD

Distinguished Professor of Medicine

The Jack and Donald Chia Professor of Medicine

Chief

Division of Rheumatology, Allergy and Clinical Immunology

Genome and Biomedical Sciences Facility

University of California at Davis

Davis

CA

利益声明

MEG declares that he has no competing interests.

Isabelle Touitou, MD, PhD

Medical Unit for Autoinflammatory Diseases

Genetic Laboratory

Arnaud de Villeneuve Hospital

Montpellier

France

利益声明

IT declares that she has no competing interests.

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