Familial Mediterranean Fever (FMF); It is an inherited disease that manifests itself with recurrent high fever and pain in the abdomen, lungs and joints.Familial Mediterranean fever disease, which progresses with inflammatory attacks triggered by the body itself due to genetic reasons, is defined as an autoinflammatory disease. In short, due to an inherited gene mutation, an inflammatory condition without a cause occurs and the immune system cannot cope with it. In addition, Amyloidosis, which is seen with the disease, can cause damage to the organs by causing the protein to accumulate outside the tissues.Familial Mediterranean fever is usually diagnosed in childhood. There is no definitive treatment for the disease and the complaints can last a lifetime. However, thanks to the herbal medicine called “Colchicine” developed in the 1970s, fever and pain attacks can be controlled and prevented to a great extent. Patients can lead a healthy life with little or no attacks.

In order to effectively treat the disease, it is necessary to diagnose it early and start using medication. For this, people with recurrent complaints should be followed closely, otherwise there may be delays in diagnosis. Diagnosis, treatment and follow-up of the disease is done by a Rheumatology Specialist.

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

Reasons

Mediterranean fever is a genetic disease and its incidence is high in our country. Jews, Armenians, Arabs, Italians, Greeks and Turks living in the Mediterranean basin are the ethnic groups where the disease is most common. However, it is also seen in other countries today. It is known that there are 10,000 Mediterranean Fever patients all over the world.

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 any symptoms only in children whose parents are carriers and the other is healthy.

The gene responsible for the disease was identified in 1997 and today the disease is defined as “the deterioration of the organism’s response to inflammation as a result of 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 clear.

Symptoms

Symptoms mostly occur in childhood and the disease progresses with periods and attacks without any complaints. The frequency of attacks is variable, and the patient is completely healthy between attacks.

Attacks usually last for 12 hours-3 days. In 90% of patients, the first attack occurs before the age of 20. Erythotic attacks involving the joints can last for weeks or months.

Recurrent fever, pain, recurrent attacks of inflammation in membrane-covered parts of the body such as abdomen, pleura, and pericardium are seen. These may accompany fever or be without fever. In some patients, skin findings and muscle pain may occur. The main feature of the disease is recurrent, recurrent episodes, most likely accompanied by fever and abdominal pain.

Sometimes patients can spend a long period without attacks. Triggers are often unknown, but infections and stress are thought to play an important role.

Pediatric patients usually appear very sick during an attack and cannot continue their daily activities. The attacks are severe enough to keep the child from school.

The signs and symptoms of Mediterranean Fever are as follows:

  • Recurrent fever (over 38°C)
  • Recurrent abdominal pain is so severe that it can be mistaken for appendicitis or gallbladder pain.
  • Joint problems (Joint inflammation-arthritis)
  • chest pain
  • A red rash, especially under the knees and on the feet
  • Swelling and tenderness in the scrotum
  • Increased rates of inflammation in the blood during follow-up

After fever and abdominal pain, the most common symptom is painful, painful and swollen joint problems. It usually disappears on its own within a few days or 1-2 weeks. Ankle and knees are most affected by joint involvement in Familial Mediterranean Fever. Later, hips, wrists, shoulders and elbows can join the disease, respectively. The involved joint is quite swollen and red looking.

Chest pain is mostly unilateral and is observed with fever.

Diagnostic Methods

In rheumatological diseases, similar to diseases such as diabetes, there are not always clear indicators in the blood.

The distinctive feature of Familial Mediterranean Fever ; The repetitive feature of the disease and the increase in inflammation in the body during relapses, the appearance of appropriate clinical symptoms, and the patient’s being completely normal between attacks. The diagnosis is made by the doctor following these complaints with the patient’s history.

Genetic tests can help with the diagnosis, but are not a definitive diagnostic criterion.

Treatment Methods

Colchicine is the only drug that can be used to control Familial Mediterranean Fever attacks and, more importantly, to prevent the development of amyloidosis. Taken in pill form, this medication reduces inflammation in your body and helps prevent attacks. Your doctor will determine the most accurate dose for this.

It has been proven that regular colchicine treatment reduces the number and severity of attacks in the vast majority of patients and prevents the development of amyloid in all patients.

While the seizures completely disappear in half of the patients, partial suppression is achieved in 30-40% of them, and the attacks cannot be fully controlled in 10%. In order for the drug to be effective, it must be used regularly throughout life, not before or during the attack.

The most common side effects of the drug are; bloating, nausea, abdominal cramps and diarrhea. It occurs especially when used in high doses.

For the treatment of arthritis, non-steroidal anti-inflammatory drugs (NSAIDs) that prevent inflammation can be prescribed by the doctor in addition to colchicine.

The most important risk that can occur in the disease is the type of disease called amyloidosis, which is caused by the accumulation of excess protein in the tissues.

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

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