Familial Mediterranean Fever
It is a genetic disease characterized by recurrent bouts of fever, in which abdominal, chest and joint pains can be seen, joint pains are sometimes accompanied by swelling.
Etiology and Risk Factors
The disease usually affects people of Mediterranean and Middle Eastern origins, namely Jews, Turks, Arabs and Armenians. The first attack in FMF starts before the age of 20 in 80% of the patients. In rare cases, onset may be delayed until the age of 40s. The person gets sick because of the genes that cause FMF. Consanguineous marriages increase the risk of two carriers carrying this disease gene coming together. In particular, individuals living in high-risk populations are recommended not to be consanguineous.
Symptoms
The main symptoms of the disease are recurrent fever with abdominal, chest, and joint pain.
Abdominal pain is the most common symptom at 90% of the time. Abdominal pain usually lasts 12-72 hours. Some attacks are so painful that the patient or family seeks medical help. It can mimic acute appendicitis in particular, and therefore some patients may undergo unnecessary abdominal pain surgery. Chest pain attacks are seen in 20-40% of patients, and joint pain is seen in 50-60% of patients. Joint pains are most common in the knee and ankle. The patient recovers completely at the end of the attacks and is completely normal between these periods. Fever up to 38.5C-40C often accompanies pain attacks. The period when it is highest is the first day. It takes 1-3 days. Generally, a skin finding defined as ‘erysipelas-like rash’ is seen. It mostly occurs in the skin between the knee and ankle. It is in the form of a red rash with clear borders, patch-like appearance. The rashes disappear within 2-4 days.
Amyloidosis is a disease that causes failure in various organs due to the accumulation of a type of protein that does not dissolve in water. Chronic kidney failure may develop as a result of amyloid accumulation in FMF.
Diagnosis
The diagnosis of the disease should be based on criteria based on a careful history, physical examination, and laboratory tests. Ethnic origin (Jewish, Turkish, Arabic, Armenian, typical periodic fever, serositis attacks (abdominal, chest pain lasting 1-4 days), family history of FMF and prevention of attacks with colchicine are very helpful in diagnosis. Genetic analysis supports clinical diagnosis.
Treatment
The goals of FMF treatment are to prevent attacks, treat attacks, and prevent the development or progression of amyloidosis. Colchicine is a proven drug for all these treatment goals. Colchicine prophylaxis (its protective use) prevents both FMF attacks and the development of chronic renal failure in the patient. It has been shown to stop the development of chronic kidney failure by preventing amyloidosis, even if it does not always prevent attacks completely.
