Familial Mediterranean fever (AAA, FMF),

< It is the most common genetic disease in our country, causing periodic fever.

It is the most common disease among the causes of periodic (recurrent) fever in children, but unfortunately it is often diagnosed late or missed. Familial Mediterranean Fever is called "Mediterranean" because it is seen especially in people living in the Eastern Mediterranean region. The disease is most common in Turks, Armenians, Jews and Arabs. Familial

Mediterranean fever is a completely different disease from Mediterranean anemia, that is, thalassemia.
Familial Mediterranean fever occurs with fever, abdominal pain, chest pain and rash attacks lasting an average of 2-3 days. These attacks pass spontaneously within a certain period of time. Children are very comfortable between attacks and are no different from a healthy child. Most of the time, these complaints do not respond to the various medications used. Joint pain or swelling may sometimes occur with these attacks and sometimes without them. The resulting joint swellings often appear very swollen. Abdominal pain that may occur is sometimes very painful and can often be confused with acute appendicitis. Therefore, many children with AAA have had surgery for acute appendicitis. Clinical findings such as testicular swelling, heart pain and meningitis may also be observed very rarely in the pre-treatment period.

There is no typical laboratory method to diagnose familial Mediterranean fever. The best method to make the diagnosis is a detailed conversation with the family and the history obtained from the patient. Seeing and evaluating the child during the attack also helps in diagnosis. Another diagnostic data is the response to colchicine used in treatment. In addition, genetic mutation analysis, which has begun to be performed frequently in recent years, helps in diagnosis by revealing the gene that may cause the disease. Gene analyzes to be performed on patients can only be It helps in doubtful situations. At this point, the prevalence of genes that can cause this disease in our country may also lead to false positive results.

Although various attempts were made to treat the disease in the 20th century, when familial Mediterranean fever was first described, full treatment was only possible after 1972. . It became possible to treat the disease and its complications with colchicine obtained from the crocus flower, which began to be used after this date. Colchicine significantly reduces the attack duration and attack severity of the disease in children. With regular use of colchicine, the frequency and duration of seizures in patients completely decrease or even disappear.

In addition to all these, amyloidosis, which is the most important undesirable condition that may occur in Familial Mediterranean Fever, can be prevented with the use of colchicine. In amyloidosis, a foreign substance may settle in the kidneys and cause permanent kidney failure. So far, no amyloidosis has been shown to occur with the use of colchicine. Therefore, colchicine is a drug that should be used regularly and continuously throughout life.

There are no side effects of colchicine that can be seen in the doses used. Simple complaints such as diarrhea and vomiting may occur at the beginning of treatment. Colchicine used for treatment purposes does not adversely affect the reproductive functions of pediatric patients.

The most important point in colchicine treatment is to remember that the disease and its treatment will last a lifetime. Because AAA, which is a genetically inherited disease, cannot be completely eliminated.

As long as patients with familial Mediterranean fever continue their colchicine treatment, no fatal situation occurs and the patients continue their normal lives. Renal failure due to amyloidosis, which can occur when untreated or when treatment is irregular, can lead to fatal situations.

As a result, Familial Mediterranean Fever is a hereditary disease that can be treated and does not have any negative effects as long as it is treated. It is a disease and it is important to raise awareness about this disease in society.


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