Rheumatology
Familial Mediterranean Fever
가족성지중해열
Recurrent fever and serositis from MEFV mutation
- How common
- Common
- Typical age
- Variable age
What is it?
Core pathophysiology of Familial Mediterranean Fever: autoimmune/inflammatory tissue damage.
Commonly affected: Joints, connective tissue, vessels (variable)
How it develops
- TriggerGenetic susceptibility and environmental triggers for Familial Mediterranean Fever
- Immune activationAutoantibody production and immune cell activation
- Tissue inflammationChronic inflammation in target tissues
- ProgressionCourse depends on treatment
Symptoms
- Joint/muscle painClassic Familial Mediterranean Fever pain pattern
- Stiffness/dysfunctionMorning stiffness with reduced mobility
- ConstitutionalFatigue, low-grade fever, weight loss
How it is examined
- Joint/systemic examSwelling, tenderness, range of motion
- Lab evaluationESR, CRP, autoantibodies, complement
Imaging
Joint/pelvic X-ray for structural assessment.
- Joint changes
- Soft tissue swelling
MRI or US for synovitis/enthesitis if needed.
- Synovitis
- Enthesitis
Non-surgical care
- NSAIDsFirst-line pain/inflammation control
- DMARD/immunosuppressantMethotrexate, hydroxychloroquine, etc.
- RehabilitationMaintain joint mobility
Conservative options are generally tried first. Medications listed here can have side effects — discuss them with your prescriber.
When surgery is considered
Refractory disease or advanced organ damage
Procedures that may be discussed
- Biologics (TNF/IL inhibitors)
- JAK inhibitors
- Joint replacement (end-stage)
Outlook
Good with early diagnosis and treatment.