Familial Mediterranean Fever is an autosomal recessive inherited disease that manifests itself with complaints of abdominal pain and fever in attacks and can be confused with acute appendicitis.
Familial Mediterranean Fever is common, especially in countries with a coast to the Mediterranean. In Turkey, North Africa, Armenians, Arabs and Jews is widespread in. It is generally known as Familial Mediterranean Fever (FMF).
FMF is characterized by abdominal pain, pain and stinging sensation in the chest (pleuritus-pleurisy) and joint pain-swelling (arthritis-joint inflammation) due to inflammation in the abdominal membrane accompanied by fever, which recurs in attacks, which can last for 3-4 days. Sometimes, skin rash on the front of the legs can also be added to the picture. Generally, these complaints can disappear spontaneously within 3-4 days even if no treatment is given. Repetitive attacks cause the accumulation of a protein called amyloid in our body over time. Amyloid accumulates most often in the kidneys, causing chronic kidney failure. To a lesser extent, it may accumulate in vessel walls and cause vasculitis.
Clinical findings occur as a result of a mutation in the gene called pyrin. It is genetically inherited. Coexistence of two diseased genes causes disease, while carrying one disease gene does not cause disease. These persons are called “carriers”.
How is Familial Mediterranean Fever Disease (FMF) diagnosed?
The diagnosis is made based on clinical findings, family history, examination findings and laboratory tests. These tests briefly support the diagnosis of Familial Mediterranean Fever, together with the height of the loocyte, the increase in sedimentation, the high CRP and the height of the fibrinogen. The benefit of genetic examination in patients is limited because the mutations identified so far can only be found positive in 80% of Familial Mediterranean Fever patients. However, genetic analysis can be helpful in atypical cases.
Is it possible to treat Familial Mediterranean Fever Disease (FMF)?
Familial Mediterranean Fever colchicine treatment was found to prevent attacks and development of amyloidosis in a significant proportion of patients. However, amyloidosis is still a serious problem in patients who do not comply with treatment or are late in starting colchicine. Colchicine treatment should be lifelong. The treatment of colchicine is known to be a safe and appropriate and vitally important treatment for patients with familial Mediterranean fever. It is recommended to use even if the patient becomes pregnant. Colchicine has not been shown to have a harmful effect on the baby. Nevertheless, it is recommended to examine the genetic structure of the fetus by performing amniocentesis to pregnant familial Mediterranean fever patients.