Familial Mediterranean Fever (FMF) is a genetic disease characterized by recurrent bouts of fever accompanied by abdominal and/or chest pain and/or joint pain and swelling. The disease usually affects Jews, Turks, Arabs and Armenians.
What are the causes of the disease?
FMF is a genetic disease. The gene responsible for Mediterranean fever is the MEFV gene and encodes a protein that plays a role in limiting inflammation. If this gene carries a mutation, inflammation cannot be controlled because this protein cannot work properly, and the patient will experience febrile attacks.
Is it hereditary?
It is an autosomal recessive (not gender-related) disease. In this type of transmission, two mutated copies are required for the child to have FMF, one from the mother and the other from the father. Therefore, both parents are carriers (one carrier has only one mutated copy but is not sick). In a large family, the disease usually occurs in another child, cousin, uncle, or distant relative. However, if one parent has FMF and the other is a carrier, as in a small group of cases, the child has a 50% chance of getting the disease.
The child gets sick because of the genes that cause FMF. It should be known that consanguineous marriages increase the risk of two carriers coming together. The disease is not contagious.
What are the main symptoms?
The main symptoms of the disease are recurrent fever accompanied by abdominal, chest and joint pain. Abdominal pain is the most common; It is seen in approximately 90% of patients. Chest pain attacks occur in 20-40% of patients, and joint pain occurs in 50-60% of patients. In general, children complain of a certain type of attack, such as recurrent abdominal pain and fever. However, some patients may experience different types of attacks. Sometimes combined attacks such as abdominal and chest pain, chest and joint pain may occur.
These attacks last for 1-4 days and go away on their own. The patient recovers completely at the end of the attack and is completely normal between these periods. Some attacks are so painful that the patient or family seeks medical help. Particularly severe abdominal attacks can mimic acute appendicitis, and therefore some patients may undergo unnecessary abdominal surgery. This is one of the reasons why patients are difficult to recognize. stomach ache boy During this period, the child is usually constipated, but as soon as the pain subsides, soft stools are passed for a short time. In joint attacks, usually one joint (monoarthritis) is affected. The ankle or knee is commonly affected. FMF has a characteristic rash called erysipelas-like erythema, which is usually observed on the lower extremities and joints. The most important complication of FMF in untreated cases is the development of amyloidosis. Amyloid is a special protein that is stored in some organs such as the kidney, intestines, skin and heart and causes progressive loss of function, especially in the kidneys.
In children who take regular and adequate doses of colchicine throughout life, attacks disappear or become rare and the risk of developing amyloidosis is eliminated.
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