Familial Mediterranean Fever (FMF)

Familial Mediterranean Fever (FMF) is an important hereditary fever of our region and our country disease. Especially Turks and Kurds living in the lands we call Asia Minor or Eurasia, It is common among Armenians, Arabs, Jews and is the common gene and common is a genetic disease.

Familial Mediterranean fever also is a disease that has been continuing genetically for years and progresses with fever. Early diagnosis of disease in FMF If not, chronic kidney failure and consequences leading to death may occur.

FMF disease, popularly known as Familial Mediterranean Fever, besides recurrent fever, abdominal pain, is an inherited disease characterized by joint pain and chest pain. If the disease is not diagnosed on time and If treatment is not started, PYRIN, which is an abnormal protein, starts to accumulate in all organs. Since the affected organ is the kidney, causes a disease called AMILOIDOSIS and ultimately kidney failure. Studies conducted especially from blood samples we randomly collect from dialysis centers are also Familial Mediterranean Fever was found to be the cause of the disease in patients who were previously diagnosed with chronic renal failure but for whom Familial Mediterranean Fever (FMF) test was not performed. Genetic carriage related to Familial Mediterranean Fever was found in their screening tests. 

Frequency of FMF in the Society

Disease type, 1/1000 in our people living in the Mediterranean region While it is frequently observed, the frequency of those who genetically carry the disease is around 20%, i.e. every one person in five has a carrier type. This is especially true of consanguineous marriages. In our country, (one out of every four people have a consanguineous marriage) has a special importance. Because consanguineous marriages cause higher incidence of patients in all hereditary diseases is happening.

Clinical Findings

It is characterized by abdominal pain, joint pain, and recurrent attacks of fever that can last 12-96 hours. The most important criteria for diagnosis are the emergence of disease symptoms in certain periods. The disease can be confused with many diseases. Fever attacks are similar to many periodic fever tables, joint pains are similar to rheumatic pains, abdominal pains to acute abdominal pains such as appendicitis similar, chest pains are similar to pneumonia, but similar to a heart attack in adults.

Diagnosis

It was very difficult to diagnose Familial Mediterranean Fever in the past, now it is diagnosed with genetic methods. easy to put. Molecular diagnosis of FMF disease, as in thalassemia, is performed by whole gene analysis. or the diagnosis can be made by looking at the mutations in the MEFV gene.

Genetics

The disease is an autosomal recessive inherited disease, but few cases of autosomal dominant inheritance have been reported in the literature. The parents of the sick individual are obligatory carriers. In societies with a high rate of familial Mediterranean Fever and consanguineous marriage, children are likely to be born as carriers or patients. If the mother and father carry the mutation as heterozygous, the probability of being born a sick individual in the next generation is 25%, while the carrier rate is 50%, the probability of being a healthy individual is 25%.

Molecular Structure

The MEFV gene, responsible for Familial Mediterranean Fever, is localized on chromosome 16p13.3, consists of 10 exons and encodes the Pyrin protein. Mutations in the MEFV gene decrease pyrin expression. The mutations that cause the disease are found in exons 2, 3, 5 and 10 of the most common genes. In the Turkish population, A744S, E148Q, M694V, M694I, M680I, K695R and R761H mutations are among the most common mutations in the MEFV gene.

Treatment

KOLSİSİN tablet is used in the treatment of the disease. Dose adjustment is made for the patient’s complaints. Amyloid does not accumulate in patients using Colchicine and kidney disease does not develop

As a result; Considering the difficulty of differential diagnosis of diseases with similar symptoms to Familial Mediterranean Fever, patients and people with suspected carriers should be diagnosed by performing the entire DNA sequence analysis of the MEFV gene.

With Colchicine treatment applied to the diagnosed patient, kidney disease will be relieved and will not be adhered to dialysis.

While making an agreement with Dialysis Centers in SSI SUT Application, payment is made for dialysis treatment, not making an agreement with the Genetic Centers included in the same article and not paying DNA Analysis, which makes the diagnosis of the disease clear, should be considered both in terms of preventive medicine, human health and the national economy. Genetic Centers should be included in the Social Security SUT application.

As with all genetic diseases, genetic diagnosis and counseling services should be provided for Familial Mediterranean Fever. By detecting the mutation carried by each patient, “genetic identity card” must be ensured.