ENWhat is familial Mediterranean fever (FMF)?
Familial Mediterranean Fever is an autosomal recessive hereditary disease that manifests itself with complaints of abdominal pain and fever in attacks and can be confused with acute appendicitis.
What is FMF Disease (Familial Mediterranean Fever)?
Familial Mediterranean Fever is frequently seen especially in countries bordering the Mediterranean. It is common in Turkey, North Africa, Armenians, Arabs and Jews. It is generally known as Familial Mediterranean Fever (FMF).
FMF disease is characterized by abdominal pain, pain and stinging sensation in the rib cage (plevititis) and joint pain and swelling (arthritis) due to inflammation of the abdominal lining, which recurs in attacks and may last 3-4 days. . Sometimes, skin redness on the front of the legs may also be added to the picture. Generally, these complaints can go away on their own within 3-4 days, even if no treatment is given. Repeated attacks cause the protein called amyloid to accumulate in our body over time. Amyloid most often accumulates in the kidneys, where it can cause chronic kidney failure. To a lesser extent, it may accumulate in the vascular walls and cause vasculitis.
Clinical findings occur as a result of mutation in the gene called pyrin. It is transmitted genetically. While the presence of two diseased genes together causes the disease, carrying a disease gene does not cause the disease. These people are called "carriers".
What are the Symptoms of Familial Mediterranean Fever (FMF)?
Familial Mediterranean Fever (FMF) is a genetic disorder common in the Mediterranean region. Symptoms of FMF can manifest as febrile seizures, severe abdominal pain, joint pain, chest pain, and diarrhea. Febrile seizures begin suddenly and usually last from 12 to 72 hours, while abdominal pain has a sharp character, especially around the navel. Joint pain is felt especially in large joints such as the knee and ankle, while chest pain can occur on the left side. Diarrhea can be seen during attacks and can usually be felt for a short time.
How is Familial Mediterranean Fever Disease (FMF) diagnosed?
Diagnosis is made based on clinical findings, family history, examination findings and laboratory tests. These tests, together with high leukocyte elevation, increased sedimentation, CRP elevation and fibrinogen elevation, support the diagnosis of Familial Mediterranean Fever. The benefit of genetic testing in patients is limited because the mutations identified to date can only be found positive in 80% of Familial Mediterranean Fever patients. However, genetic analysis may be useful in atypical cases.
Is it possible to treat Familial Mediterranean Fever Disease (FMF)?
It has been determined that colchicine treatment of Familial Mediterranean Fever prevents attacks and the 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 delayed in starting colchicine. Colchicine treatment should be lifelong. It is known that colchicine treatment is a safe, suitable and vital 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. However, it is recommended that pregnant patients with familial Mediterranean fever undergo amniocentesis and examine the genetic structure of the fetus.