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Familial Mediterranean Fever (FMF)

An autoinflammatory hereditary disease characterized by recurrent fever and serositis attacks.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Familial Mediterranean Fever (FMF)?

Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease that develops due to dysfunction of the pyrin protein resulting from mutations in the MEFV gene, presenting with recurrent short-duration fever and serositis attacks. It is common in Mediterranean and Middle Eastern populations, especially Turks, Jews, Armenians, and Arabs.

Attacks last 12-72 hours; the most common findings are fever, peritonitis (abdominal pain), pleuritis (chest pain), monoarthritis, and erythema nodosum-like skin lesions. The patient may be completely asymptomatic between attacks, but acute phase reactants may remain chronically elevated.

Diagnosis is based on clinical criteria (Tel-Hashomer) and MEFV gene analysis. The most serious complication in untreated cases is AA-type secondary amyloidosis; therefore, colchicine treatment should be continued for life even when there are no attacks.

Symptoms

Recurrent high fever attacks (12-72 hours)
Severe abdominal pain (peritonitis)
Chest pain and stabbing on inspiration (pleuritis)
Unilateral large joint monoarthritis (especially ankle, knee)
Erythema nodosum-like lesions on the lower legs
Muscle pains and exertion-triggered myalgia
Headache and weakness
Testicular swelling in boys (acute scrotum)

Risk Factors

Mediterranean or Middle Eastern origin (Turkish, Jewish, Armenian, Arab)
Family history of FMF
MEFV gene mutation (M694V most common)
Consanguineous marriage
Symptom onset before age 20
Family history of amyloidosis
Stress, fatigue, and menstruation (triggering)
Cold weather and fatty foods

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Recurrent short-duration fever and abdominal pain attacks
  • Similar complaints in the presence of family history
  • Unexplained single-joint pain
  • Severe chest pain during attacks
  • Foamy urine (sign of amyloidosis)
  • Painful red lesions on the legs

Treatment Methods

01
Lifelong colchicine (0.5-2 mg/day) basic treatment
02
Adjustment of colchicine dose based on side effects and weight/age
03
IL-1 blockers (anakinra, canakinumab) in colchicine-resistant cases
04
NSAIDs symptomatic treatment during attacks
05
Early colchicine optimization if amyloidosis develops
06
Nephrology consultation for renal involvement
07
Genetic counseling and family screening
08
Diet and stress management recommendations

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Dahiliye (İç Hastalıkları) Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.