Familial Mediterranean Fever
Also known as: FMF, Periodic Fever Syndrome, Autosomal Recessive, Serositis, Recurrent
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent, short episodes of fever accompanied by inflammation of the abdomen, chest, or joints. It primarily affects people of Mediterranean ancestry, including Sephardic Jews, Turks, Armenians, and Arabs. The condition is caused by mutations in the MEFV gene, which leads to dysregulation of the inflammatory response. Untreated FMF can lead to amyloidosis, a serious complication affecting the kidneys.
Imagine your body sometimes gets confused and thinks it's hurt, even when it's not. This makes you feel sick with fever and tummy aches. It's like a glitch in your body's alarm system. Doctors can give you medicine to calm the alarm down.
Signs & Symptoms
- Recurrent fever
- Abdominal pain
- Chest pain
- Joint pain and swelling
- Skin rash (erysipelas-like)
- Myalgia (muscle pain)
- Headache
Treatment Options
Colchicine
HIGHLY EFFECTIVENonsteroidal Anti-inflammatory Drugs (NSAIDs)
MODERATELY EFFECTIVEInterleukin-1 (IL-1) inhibitors (e.g., anakinra, canakinumab)
MODERATELY EFFECTIVESupportive care for symptom management
SUPPORTIVEDiagnosis
- Clinical evaluation based on Tel Hashomer criteria
- Genetic testing for MEFV gene mutations
- Inflammatory markers (ESR, CRP) during attacks
- Amyloidosis screening (e.g., renal biopsy)
History
FMF was first described in the early 20th century, with significant advancements in understanding its genetic basis and pathophysiology in the late 20th and early 21st centuries. The discovery of the MEFV gene in 1997 was a major breakthrough.
Recent Breakthroughs
Long-term Efficacy of IL-1 Inhibitors in Colchicine-Resistant FMF
A study demonstrated the sustained efficacy and safety of IL-1 inhibitors (anakinra and canakinumab) in patients with FMF who are resistant or intolerant to colchicine, providing an alternative treatment option.
Novel MEFV Gene Mutations Identified
Researchers identified new rare MEFV gene mutations associated with atypical FMF presentations, expanding the spectrum of genetic variants and improving diagnostic accuracy.