Familial Mediterranean fever, one of the diseases seen in countries bordering the Mediterranean Sea, is also a genetically inherited disease. Familial Mediterranean Fever, also known as FMF, occurs mainly in North Africans, Jews, Armenians, Arabs and Turks.
What is Familial Mediterranean Fever?
Familial Mediterranean disease, which occurs as a result of a mutation in a gene called pyrin, is also an inherited disease. If both mother and father carry the gene, then their children will have the disease. However, if one of the parents has the familial Mediterranean fever gene, the child becomes a carrier.
The most characteristic symptoms of Familial Mediterranean Fever, which has similar symptoms to acute appendicitis, include recurrent attacks lasting about three days. Attacks of Familial Mediterranean Fever are caused by inflammation of the lining of the abdomen. This can cause chest pain, abdominal pain, joint pain, fever and a stabbing sensation in the chest.
Some patients have redness on the front parts of their legs. The symptoms of Familial Mediterranean Fever disappear spontaneously within 3 to 4 days, even without treatment. On the other hand, due to the constant recurrence of attacks, protein accumulation occurs in the bodies of patients. This protein is usually deposited in the kidneys. Although it is rare, some patients also have protein deposits in the cell walls. If the protein accumulates in the cell wall, vasculitis may occur.
Causes of Familial Mediterranean Fever
The only known cause of Familial Mediterranean Fever is genetic. The disease, which is transmitted to generations with a recessive gene, has been seen in 10 thousand patients worldwide. However, the cause of the physiological attacks associated with the disease is unknown.
Symptoms of Familial Mediterranean Fever
The first symptoms of the disease appear in childhood. Patients do not present with a continuous disease picture. Instead, there are periods of attack and periods of health. The frequency of attacks experienced by patients with Familial Mediterranean Fever varies according to the individual patient. However, patients lead a completely healthy life when the disease is not in remission.
The disease usually shows its first symptoms before the age of 20. Attacks of Familial Mediterranean Fever usually last between 12 hours and 3 days. However, erythritic attacks characterized by joint involvement can last for weeks or months. It is not known what triggers attacks of Familial Mediterranean Fever. Studies show that infection and stress may be factors. Childhood attacks of the disease are more severe than in adulthood. For this reason, the daily lives of pediatric patients are severely affected. Symptoms of the disease include the following.
- Recurrent fever,
- Pain,
- Inflammation of membranes in the body (pleura, pericardium, peritoneum)
- Skin findings,
- Muscle aches
- Increased inflammation in the blood,
- Swelling and tenderness in the scrotum,
- Red rashes below the knees and on the feet,
- Joint inflammation,
- 3Fever above 38 degrees,
- Severe abdominal pain,
How is Familial Mediterranean Fever Diagnosed?
Although blood tests are used in the diagnosis of Familial Mediterranean Fever, the symptoms of the disease are not always found in blood values. The hallmark of the disease is therefore a persistently recurrent increase in infection in the blood counts. Genetic tests are also not enough for a definitive diagnosis. Patients are usually diagnosed after cycles of attacks and normal periods.
Familial Mediterranean Fever Treatment
In the treatment of Familial Mediterranean Fever, treatment is planned both to control attacks and to prevent the development of amyloidosis. The only drug that can achieve this goal is colchicine. Although colchicine is in pill form, it both prevents attacks and reduces inflammation in the body. Patients who continue colchicine treatment regularly experience a decrease in the number and severity of attacks. On the other hand, the main aim of this drug treatment is not to reduce attacks. Instead, it is to prevent the development of amyloidosis. In this regard, the drug provides 100% success. With the use of the drug, seizures disappear in half of the patients, while suppression is achieved in 40 to 30%. In 10% of patients, attacks cannot be controlled. For drug treatment to be successful, patients need to continue their treatment regularly and throughout their lives.
Diarrhea, abdominal cramps, nausea and bloating are the most common side effects of the drug cacicin used for the treatment of Familial Mediterranean Fever. If arthritis is added to the picture of the disease, arthritis treatment should be added to the treatment of Familial Mediterranean Fever. Nonsteroidal anti-inflammatory drugs are used in the treatment of arthritis.
