What is FMF Disease (Familial Mediterranean Fever)?

FMF disease, also known as familial Mediterranean fever; It is a disease that results in attacks of fever, abdominal pain, chest pain, joint pain and rash. It is most common in people of Mediterranean and Middle Eastern descent, but can also occur in people of any ethnicity. You can find more information below.

What is FMF disease?

FMF disease , also known as familial Mediterranean fever , is a genetic disease that causes recurrent episodes of fever , typically accompanied by pain in the abdomen , chest, or joints . It is most often seen in individuals of Mediterranean and Middle Eastern descent, and the first symptoms typically begin in childhood.

FMF disease usually affects people of Mediterranean and Middle Eastern descent, typically Sephardic Jews, Turks, Arabs, and Armenians. With the advent of medicine, it is now being diagnosed more frequently than before, even among populations considered very rare, such as Italians, Greeks, Ashkenazi Jews, and even the Asian population.

FMF disease attacks begin before the age of 20 in approximately 90% of patients. Fever occurs before the age of 10 in approximately 75% of patients.

Causes of FMF disease

FMF disease is a genetic disease caused by mutations in the MEFV gene. Although initially thought to be a recessive disease that requires two abnormal copies of the MEFV gene, one from the mother and one from the father, children can still have FMF even if they have only one mutated gene. Rarely, FMF disease can be diagnosed even if the abnormal gene is not found.

The MEFV gene makes a protein called pyrin . Pyrin plays a role in the natural control of inflammation. When the MEFV gene is not working properly, the inflammation gets out of control and patients experience episodes of fever and pain even when there is no infection. Triggers for FMF disease flare-ups include infection, trauma, strenuous exercise, heavy menstrual periods, or psychological stress.

FMF disease symptoms

The main symptoms of FMF disease are recurrent episodes of fever with abdominal, chest or joint pain. Not all children will have all these symptoms, and symptoms may change over time.

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Symptoms usually last one to three days and go away without treatment. Most children look and feel well amid symptoms, but some children have common symptoms, do not recover fully, or do not grow properly.

Some symptoms can be so painful that the patient or family may have to go to the emergency room. Severe abdominal pain may look like appendicitis, and some patients may need surgery. Sometimes the chest pain can be so severe that the patient has difficulty in breathing deeply.

Joint pain may also accompany fever attacks. Usually, only one joint is affected at a time, most commonly the ankle or knee joints. The joint may be so swollen and painful that the child cannot walk.

A third of patients may have a red rash over the lower extremities, usually near the ankles and feet. In some children, episodes of joint pain and swelling may be the only manifestation of the disease, which may be misdiagnosed as acute rheumatic fever or juvenile idiopathic arthritis . Usually joint swelling resolves within 5-14 days, but sometimes it can become chronic (continuous).

Some children note muscle pain in the legs, especially after physical exertion. Rarely, children have recurrent pericarditis (inflammation of the outer lining of the heart), myositis (inflammation of the muscle), meningitis (inflammation of the membrane that surrounds the brain and spinal cord), or orchitis (inflammation of the testicles). Children younger than five years of age may have only recurrent episodes of fever without other symptoms.

FMF disease diagnosis

In cases where FMF disease is suspected, a test may be done to look for gene mutations. It is possible to have FMF disease and only have a defect in one gene or none at all.

For example, in the United States, more than 30% of these patients do not have mutations in either gene. Therefore, the diagnosis of FMF disease is still based on symptoms and physical examination by the doctor, which can make the diagnosis difficult.

Children with episodic fever and a common ethnicity are most suspected for FMF disease. In this case, another family member may also have FMF or unexplained kidney failure. Children younger than five, especially, may have periodic fevers without other symptoms.

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Therefore, careful observation is required to make a diagnosis. Families can help the doctor diagnose by keeping notes when fevers occur. The child may need to be examined during a fever and laboratory tests that show signs of inflammation may be required.

In some cases, a drug called colchicine will be given for three to six months as a test to see if episodes of pain and fever can support a diagnosis of FMF disease.

FMF disease treatment

FMF disease cannot be cured, but can be controlled with the use of colchicine , an oral medication taken one to two times a day . Colchicine prevents the onset of symptoms, but does not treat a symptom that has already started. If the patient stops taking the drug, the attacks may return, even if only one dose is missed.

If colchicine is taken regularly, the vast majority of children with FMF can live a normal life with a normal life expectancy. You should never change the dose of medication without consulting your doctor first.

The most common side effects of colchicine are abdominal pain and diarrhea. In such a case, the dose may be reduced until tolerated and then slowly returned to the appropriate dose. Reducing your intake of milk or other dairy products or consuming lactose-free milk may help. Other side effects are nausea, vomiting and abdominal cramps.

In rare cases, colchicine may cause muscle weakness when taking antibiotics, especially from the erythromycin (macrolide) family or statins (cholesterol drugs). Therefore, these drugs need to be administered with colchicine with caution. Blood counts (white and red blood cells and platelets) may occasionally decrease and liver enzymes may be slightly elevated, but these usually improve with dose reduction. Children who take colchicine grow normally.

Female patients do not have to stop taking colchicine during pregnancy or breastfeeding. Children treated with colchicine should have blood and urine tests performed at least twice a year.

About ten percent of patients do not respond adequately to this drug. Recent research has found that drugs that block interleukin-1 , an important protein involved in the inflammatory process, can be effective for the majority of these patients. These drugs include rilonacept, anakinra, and canakinumab.

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Remember, your doctor will decide which medicine to take and how.

Effects of FMF disease and how to prevent them

The most serious complication of untreated FMF disease is the development of amyloidosis . Amyloid is a protein that builds up in the organs of people with chronic inflammatory diseases that are not well controlled. The most common organ is the kidney, but amyloid can also affect the intestines, skin, and heart.

Eventually, amyloid causes loss of function, especially in the kidneys. If this occurs, dialysis or a kidney transplant may be needed. However, lifelong treatment with colchicine has been shown to prevent the development of amyloid. Patients with kidney amyloidosis will have high protein levels in their urine tests. Those with FMF should have a urine test at least twice a year.


The genetic disease is treated symptomatically by doctors. Modification of mutated genes is not allowed for legal reasons in many countries. Although the disease mainly occurs in people from the Mediterranean region, doctors in many countries cannot perform gene therapy due to legal regulations.

Symptoms that occur in patients are treated symptomatically by the attending physician. Existing irregularities can be controlled and brought under control by administering medication. The symptoms are relieved in a short time until they completely disappear after a few days or weeks.

Treatment also aims to reduce the number of relapses that occur over the lifespan. As long as medication is taken, life can always proceed without symptoms. This improves well-being and quality of life. However, long-term treatment should also be observed, otherwise the symptoms may return.

If medical treatment is refused, the prognosis is impaired. Relapses occur at shorter intervals. In addition, the symptoms last longer or become more intense. The average life expectancy for this disease is also reduced, as damage to organs can occur. Therefore, what the doctor recommends should be done and the drugs prescribed should be used as recommended.

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