Hereditary but not helpless: Familial Mediterranean Fever
Suddenly severe pains, fever that can rise up to 40 ... In many cases, even with appendicitis, even in a hurry to the operation of these complaints to the residents of the Mediterranean region is actually a gift! FMF or Familial Mediterranean Fever is hereditary but not helpless.
Although Familial Mediterranean Fever is a disease specific to the region, it is not well known to the public. Familial heredity, the "Mediterranean fever" is also called in the Mediterranean and the Middle East or origin of this land is more common in communities based on this land. The disease is defined as an inflammatory disorder that causes recurrent fever, pain in the abdomen, lungs and joints. When we look at its history, we see that the first cases were recorded in 1945. Allergy specialist at this time. Siegel published five cases with early onset and recurrent severe abdominal pain and fever. Later, Dr. Reiman described the condition in these patients as "good peritonitis". Finally in 1960, Professor. Heller says this disease is inherited autosomal recessively, and is more common in some ethnic groups of the Mediterranean region. That's why it's called FMF (Familial Mediterranean Fever). As a result of this disease, amyloidosis develops due to the accumulation of amyloid substance in the kidneys. In 1972, Goldfinger observed that fever, abdominal pain and arthritis colchicine were good for these patients, explaining that this drug cures both symptoms and attacks. In 1997, the French detect common genetic mutations in those who carry the disease. Today, at least 300 genetic mutations associated with the disease have been identified. It was also found that different ethnic groups in the Mediterranean region had the same mutation.
What kind of disease?
FMF is usually diagnosed in childhood. Watches in attacks. In other words, the patient has complaints for a certain period of time and then spontaneously regresses. The attacks are mostly in the form of recurrent fever and abdominal, chest, joint pain with fever. It lasts for a maximum of 3 days, with the most severe episode occurring within the first 24 hours. Attacks that last less than 6 hours and last more than 96 hours should be met with suspicion. During attacks, fever occurs in all patients, abdominal pain is observed in 97 percent of the patients, and arthritis with swelling and pain in the joints is observed in 40 to 70 percent. Even less, it may show signs of testicular pain, calf pain, redness of the foot or leg skin.
Which communities are there?
This disease is more common in Eastern Mediterranean origin societies. It is most common among Jews, Turks, Armenians and Arabs. Sephardic Jews living in North Africa are known to be the most severe community. Although it is seen in every region in our country, it is more common in Central Anatolia than the studies conducted.
How do attacks occur?
When the genetic factors that affect FMF function normally, they play a role in suppressing the inflammatory events in our body. However, in FMF, this structure has been genetically mutated. In other words, it is defective. Since normal function cannot be seen, abdominal membranes, lungs, and even the testes in the man's membranes, joints, skin occasionally become inflamed. This is manifested by pain and general body fever in the affected area. This means that the main symptoms of the disease are “fever reden and“ pain de in the affected areas. Most attacks start suddenly without a specific pre-symptom. A small number of patients may have preliminary symptoms shortly before the onset of the attack.
What is the course of fire?
Fever shows a progressive course in the first 12-24 hours of the onset of the attack. Up to 38.5-40 degrees. Then it starts to fall. That is, when the fever is highest, it is usually the first day of the onset of the attack. On the second or third days the fever falls. Fever is expected during attacks in FMF. Diagnosis should be reviewed in patients without fever.
Where does pain occur?
Joint pain is detected in 75% of FMF patients. It most often affects the knee and ankle. Usually regresses 3-4 days. Improvement of joint findings may be delayed in 5 percent of patients. Joints usually heal without damage. However, when the hip joint is affected, there is a risk of damage and may require surgical intervention.
FMF pains are most common in the large joints of the abdomen, chest and legs (mostly knee, ankle). Abdominal pain is most common. In 90% of patients, fever is accompanied by abdominal pain. It usually starts at an unexpected moment. It can start from a region of the abdomen and becomes increasingly common. The intensity is variable. It may give similar findings to diseases that require emergency surgery (such as appendicitis).
25-50 percent of patients also have chest pain. They are unilateral chest pain that starts at an unexpected time and sinks with breathing. In 2-4 days, pain usually goes away.
Skin findings in FMF also appear. About 10 percent of patients have cilt erysipelas-like redness cilt. They often occur on the skin between the knee and ankle.
Is there any cure?
First of all, like all genetic diseases, FMF is not transient. It is a chronic disease. Therefore, treatment should be planned for a lifetime. Symptoms occur in the first 10 years in 70 percent of patients. In the first 20 years, 90% of the patients were diagnosed. So, in fact, in most patients, complaints begin in childhood.
The onset of the disease after the age of 40 is not absent but is very rare. FMF does not have a cure for bugün full healing ede in a short time. However, we should know that there are very good treatment results. Colchicine, which has been used since 1972, is very important in FMF treatment. When used in adequate doses, 65% of the patients recover completely. The severity and frequency of attacks decreased in 30 percent of patients. Five percent of patients did not respond to treatment.
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