What is Familial Mediterranean Fever?
Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder that causes recurrent episodes of fever and inflammation, especially in the abdomen, chest, or joints. It most commonly affects people of Mediterranean descent, including those with Turkish, Arab, Armenian, or Sephardic Jewish ancestry.
FMF is inherited, meaning it’s passed down from parents to children through genes. The condition is lifelong but can be managed effectively with treatment.
What causes FMF?
FMF is caused by mutations in the MEFV gene, which plays a role in regulating inflammation. When the gene doesn’t work properly, it leads to repeated episodes of inflammation in various parts of the body.
It is usually inherited in an autosomal recessive pattern, meaning a person must receive a copy of the defective gene from both parents to develop the condition.
What are the symptoms of FMF?
Symptoms typically begin in childhood or adolescence and may include:
- Recurrent fevers (often lasting 1–3 days)
- Severe abdominal pain (mimicking appendicitis)
- Chest pain from inflammation of the lining of the lungs or heart
- Swollen, painful joints, especially the knees or ankles
- Skin rashes, often on the lower legs
- General fatigue or feeling unwell
- Some patients may experience symptoms only occasionally, while others have frequent attacks
Between episodes, people with FMF usually feel normal.
How is FMF diagnosed?
Diagnosis is based on:
- Clinical history of recurring fevers and symptoms
- Family history, especially if others in the family have similar symptoms
- Genetic testing to confirm mutations in the MEFV gene
- Blood tests during or after episodes may show elevated inflammatory markers like ESR or CRP
Because FMF symptoms can resemble other conditions, diagnosis may take time.
How is FMF treated?
There is no cure for FMF, but it can be managed successfully. Common treatments include:
- Colchicine – This is the main treatment used to prevent attacks and reduce the risk of complications. It is usually taken daily and works in most patients.
- NSAIDs (non-steroidal anti-inflammatory drugs) – For pain relief during flare-ups
- Biologic medications – In some cases, other anti-inflammatory drugs or biologics are prescribed if colchicine is not effective
What are the possible complications?
If left untreated, FMF can lead to amyloidosis, a condition where abnormal protein builds up in organs, particularly the kidneys, leading to kidney failure. Regular treatment with colchicine can prevent this complication.
Other potential complications include:
- Chronic joint damage
- Infertility in some cases
- Emotional or social effects from chronic illness
When should you see a doctor?
You should seek medical advice if:
- You or your child has repeated unexplained fevers with pain
- There is a known family history of FMF
- You experience severe abdominal or chest pain during episodes
- You miss doses of medication and symptoms return
Early diagnosis and consistent treatment can prevent long-term damage.
What is the outlook?
With proper treatment, most people with FMF lead normal, healthy lives. Colchicine effectively reduces attacks and prevents complications in the vast majority of cases. Lifelong follow-up is important to monitor symptoms and kidney function.