Mediterranean Fever Disease – Symptoms and Treatment Methods

Familial Mediterranean Fever (FMF) Disease: What is it?

Familial Mediterranean Fever (FMF) is an inherited disease characterized by recurrent high fever accompanied by abdominal, lung, and joint pain.

Genetically triggered inflammatory attacks, which the body initiates on its own, characterize Familial Mediterranean Fever Disease as an autoinflammatory condition. In short, an inflammatory state occurs due to a hereditary gene mutation, and the immune system fails to cope with it. Additionally, amyloidosis, which can lead to tissue damage by accumulating protein outside the tissues, may occur with the disease.

Familial Mediterranean fever is usually diagnosed in childhood. There is no definitive cure for the disease, and symptoms can persist throughout life. However, with the herbal medication called “Colchicine,” developed in the 1970s, fever and pain attacks can be largely controlled and prevented. Patients can live healthy lives with few or no attacks.

Early diagnosis and initiation of medication are necessary for effective treatment of the disease. Individuals with recurrent complaints need to be closely monitored; otherwise, there may be delays in diagnosis. Diagnosis, treatment, and follow-up of the disease are conducted by a Rheumatology Specialist.

Early diagnosis of Familial Mediterranean Fever, a common health problem in our country, is important for preventing damage and vital risks by starting treatment at the right time.

Health Problems

Causes of Familial Mediterranean Fever (FMF) Disease

Mediterranean fever is a genetic disease and is common in our country. Jews, Armenians, Arabs, Italians, Greeks, and Turks living in the Mediterranean basin are the ethnic groups where the disease is most commonly observed. However, it is also seen in other countries nowadays. It is known that there are 10,000 Mediterranean Fever patients worldwide.

The disease is transmitted through a recessive gene. It can be seen in children whose parents have this gene mutation. The disease does not show symptoms in children who have only one carrier parent, and the other is healthy.

The gene responsible for the disease was identified in 1997, and today, the disease is defined as “disturbance of the body’s response to inflammation due to mutations in the MEFV gene.”

Mutation in the MEFV gene prevents the suppression of inflammation in the body. However, the physiological factors that initiate the attack are not known.

Symptoms of Familial Mediterranean Fever (FMF) Disease

Symptoms usually appear in childhood, and the disease progresses with periods without any complaints and with attacks. The frequency of attacks varies, and the patient is completely healthy between attacks.

Attacks usually last 12 hours to 3 days. The first attack occurs before the age of 20 in 90% of patients. Arthritic attacks affecting the joints can last for weeks or months.

Recurrent fever, pain, and recurrent inflammation attacks in areas covered by membranes such as the abdomen, lung membrane, and heart membrane are observed. These may accompany fever or occur without fever. Some patients may develop skin symptoms and muscle pains. The main feature of the disease is a recurrent, episodic presentation, most likely with fever and abdominal pain.

Patients may sometimes go through long periods without attacks. Triggering factors are generally unknown, but infections and stress are thought to play an important role.

Children patients may appear very sick during an attack and may not be able to continue their daily activities. Attacks can be severe enough to keep the child out of school.

Symptoms and Signs of Mediterranean Fever Are as Follows

Recurrent fever (above 38°C)
Recurrent abdominal pain, so severe that it can be mistaken for appendicitis or gallbladder pain.
Joint problems (Joint inflammation-arthritis)
Chest pain
Especially a red rash under the knees and feet
Swelling and tenderness in the testicular sacIncre
ase in inflammation levels in the blood during follow-ups
After fever and abdominal pain, the most common symptom is painful, tender, and swollen joint problems. It usually disappears spontaneously within a few days or 1-2 weeks. Ankle and knees are most affected by familial Mediterranean fever, followed by hip, wrist, shoulder, and elbow involvement. The affected joint looks quite swollen and red.

Chest pain is mostly unilateral and is observed together with fever.

Diagnosis of Familial Mediterranean Fever (FMF) Disease

As in rheumatic diseases, there are not always clear indicators in the blood.

The distinguishing feature of Familial Mediterranean Fever is the recurrent nature of the disease, the increase in inflammation during recurrences, the presence of appropriate clinical symptoms, and the patient being completely normal between attacks. The diagnosis is made by the doctor who follows these complaints with the patient’s history.

Genetic tests can assist in diagnosis but are not definitive criteria.

Treatment of Familial Mediterranean Fever (FMF) Disease

The only drug that can be used to control familial Mediterranean fever attacks and, more importantly, to prevent amyloidosis development is Colchicine. This medication, taken in tablet form, reduces inflammation in your body and helps prevent attacks. The correct dosage is determined by your doctor.

Regular colchicine treatment has been proven to reduce the number and severity of attacks in the majority of patients and prevent amyloid development in all patients. In half of the patients, seizures completely disappear, in about 30-40% partial suppression is achieved, and in about 10% seizures cannot be completely controlled. For the drug to be effective, it must be used regularly throughout life, not before or during attacks.

The most commonly seen side effects of the drug are swelling, nausea, abdominal cramps, and diarrhea. They occur especially when used in high doses.

In addition to colchicine for arthritis treatment, nonsteroidal anti-inflammatory drugs (NSAIDs) that prevent inflammation can be prescribed by the doctor. The most important risk that may arise in the disease is amyloidosis, a type of disease caused by the accumulation of excessive protein in tissues.

If amyloidosis has not developed in the patient before the diagnosis is made, a completely healthy life can be maintained with medications without any organ damage. Therefore, it is important to consult a doctor for early diagnosis, especially if there is a family history and recurrent fever is observed.