Familial Mediterranean Fever (FMF)

 It is a genetic disease that is manifested by recurrent fever and pain in the abdomen, lungs and joints.

The familial Mediterranean fever disease that develops with inflammatory attacks caused by the body itself for genetic reasons is defined as an autoinflammatory disease. In short, due to an inherited genetic mutation, an inflammatory condition occurs without a cause and the immune system cannot deal with it. Amyloidosis, which also presents with the disease, can cause protein to build up outside the tissues, causing organ damage.

Familial Mediterranean Fever

Familial Mediterranean fever is usually diagnosed in childhood. There is no definitive cure for the disease and complaints can last for life however thanks to the herbal medicine called "Colchicine" developed in the 1970s it can control and prevent fevers and attacks to a great extent. Patients can lead a healthy life with few or no seizures.

In order to treat the disease effectively, it is necessary to diagnose it early and start using medications. Therefore, people with frequent complaints must be closely monitored, otherwise there may be a delay in diagnosis. The diagnosis, treatment and follow-up of the disease is carried out by a rheumatologist.

Early diagnosis of familial Mediterranean fever which is a common health problem in our country is important in order to prevent damage and vital risks by starting treatment in time.

the reasons

Mediterranean fever is a genetic disease and its prevalence is high in our country. Jews, Armenians, Arabs, Italians, Greeks, and Turks living in the Mediterranean basin are the ethnic groups in which the disease is common, though it is also seen in other countries today. It is known that there are 10,000 patients with Mediterranean fever worldwide.

The disease is transmitted through a recessive gene that can be seen in children whose parents have this genetic mutation. The disease does not show any symptoms except in children whose parents are pregnant and the others are 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".

A mutation in the MEFV gene prevents inflammation in the body. However, the physiological factors that initiated the attack are unclear.

symptoms:

Symptoms mostly appear in childhood and the disease progresses at intervals and without attacks without any complaints. The frequency of seizures is variable and the patient is otherwise healthy between seizures.

The attacks usually last for 12 hours to 3 days. In 90% of patients the first attack occurs before the age of twenty. Rheumatoid arthritis that affects the joints can last for weeks or months.

Recurrent fever, pain, and recurrent inflammatory attacks appear in the membrane-covered parts of the body such as the abdomen, pleura, and pericardium. This fever may or may not be accompanied by a fever. In some patients, skin symptoms and muscle aches may appear. The main feature of the disease is frequent attacks, often accompanied by fever and abdominal pain.

Sometimes patients can go for a long time without seizures. The triggers are often unknown but infection and stress are thought to play an important role.

Affected children usually appear very ill during the seizure and cannot continue with their daily activities. The seizures are severe enough to keep the child away from school.

The signs and symptoms of Mediterranean fever are as follows:

Recurrent fever (more than 38°C).

Recurrent abdominal pain is so severe that it can be confused with appendicitis or gallbladder pain.

joint problems (arthritis - rheumatoid arthritis)

pain in chest

A red rash, especially under the knees and feet.

Swelling and pain in the scrotum.

Increased rates of inflammation in the blood during follow-up.

After fever and abdominal pain, the most common symptoms are painful joints, painful and swollen joint problems. It usually goes away on its own within a few days or 1-2 weeks. Ankles and knees are most affected by joint involvement in familial Mediterranean fever.

Later, the hips, wrists, shoulders, and elbows can join the disease, respectively. The affected joint is very swollen and red in appearance. The chest pain is often unilateral and noted with fever.

Diagnostic methods:

In rheumatic diseases, there are not always clear indicators in the blood, such as other diseases such as diabetes

The hallmark of familial Mediterranean fever is the recurrent characteristic of the disease, increased inflammation in the body during relapses, the appearance of appropriate clinical symptoms, and the patient being completely normal between attacks. The diagnosis is made by a physician who follows these complaints and the patient's history.

Genetic testing may aid the diagnosis, but it is not a definitive diagnostic criterion.