FMF (Familial Mediterranean Fever) is also called polyserositis. Among the salient features of FMF are peritonitis, pleuritis, and recurrent attacks with fever accompanying arthritis. It is more common in families of Mediterranean origin compared to other ethnic origins and, as the name suggests, it is familial. In other words, it occurs due to a genetic mutation carried and is usually seen in more than one member of the family. Since the symptoms are similar to many diseases, the diagnosis may be delayed at the beginning, but recurrent and unknown abdominal pain attacks strengthen the suspicion of this disease.
The Cause of FMF
In most patients, gene mutations that cause nonsense or missense expression in the MEFV (Mediterranean fever, Mediterranean fever) gene appear to cause the disease. Numerous mutations in the MEFV gene can cause FMF. Some of these mutations have mild symptoms, while others can be quite severe. The MEFV gene produces a protein called pyrin, accompanied by intense fever. Pyrin is mostly produced in cells called neutrophils.
According to studies conducted to date, the role of pyrin has been determined to include the innate immune response, such as the generation of inflammation and sensing intracellular danger signals as part of the inflammasome, activating inflammation mediators, and resolving inflammation by self-digestion of innate immune regulators.
In patients with FMF, uninhibited pyrin activity results in uncontrolled production of interleukin-1 (IL-1), which causes episodes of inflammation in the peritoneum, pleura, and joints with accompanying fever.
Inflammatory attacks in patients with FMF cause overproduction of amyloid A protein and its accumulation in the kidneys.
Symptoms of FMF
- Fire
- Abdominal pain
- Chest pain
- Painful, swollen joints
- Diarrhea following constipation
- Red rash on the legs, especially below the knees
- Muscle aches
- Swollen and tender scrotum in men
Diagnosis of FMF
Since the complaints and clinical findings of the patients are similar to many diseases, it is difficult to make a definitive diagnosis with these symptoms. However, thanks to the genetic tests available, FMF can now be diagnosed accurately and quickly. It is usually diagnosed in childhood, but in individuals whose attacks are not frequent and severe, it may not be diagnosed until adulthood.
The frequency of attacks can vary widely among individuals. The period between attacks can be a few days, months or years, and the person may feel completely normal between attacks.
Since FMF is a familial disease, people who have a family history and have attacks like we mentioned can have a definitive diagnosis by having an FMF test.
Complications of FMF
During attacks of FMF, the body produces an abnormal protein, amyloid A. This protein can accumulate in organs such as the kidney, causing organ damage. (Amyloidosis)
It can cause infertility especially by affecting the female reproductive system.
It can cause severe joint pain due to the intense arthritis it creates in the joints.
Unnecessary appendectomy may be performed due to unexplained and recurrent abdominal pain.
Treatment of FMF
It is not possible to cure this disorder completely, but depending on treatment, the signs and symptoms of Familial Mediterranean Fever can be alleviated or completely prevented.
Colchicine is a highly effective drug in the prevention of FMF attacks and the development of amyloidosis. In second-line treatment, drugs called anakinra, rilonacept, canakinumab, which are known as biological agents, are used.
FMF Test
Inflammation markers in the blood during attack periods may support the diagnosis. However, since these markers will increase in all diseases with inflammation, they cannot make a definitive diagnosis. Therefore, it is important to have an FMF test.
The FMF test is based on detecting mutations that cause FMF disease in a person’s DNA, which is separated from a 2-milliliter whole blood sample. Only a blood sample is taken from the patient. Therefore, it is applied in very comfortable conditions for the patient and does not involve any risk. It is a very valuable test, as it allows a definitive diagnosis to be made.
The MEFV gene examined in this test contains 781 codes in 10 exon regions. According to scientific studies, around 30 mutations have been identified in this gene, most of which are located in the last exon. However, not all of these mutations cause disease. Five mutations, V726A, M694V, M694I, M680I and E148Q, are responsible for 74% of cases. Mutations in the M680I, M694V codons are the mutations that cause the most severe clinical picture in FMF patients.
Is FMF and Mediterranean Anemia the Same?
Fmf and Mediterranean Anemia, We would like to talk about two diseases that can be confused with each other and are generally found in those living in the Mediterranean Region. Fmf and Mediterranean Anemia.
Fmf and Mediterranean Anemia diseases, as we have just mentioned, are frequently seen especially in Mediterranean Region and surrounding countries. Fmf and Mediterranean Anemia diseases are very similar to each other both in name and character structure. For this reason, they can be confused while making the diagnosis.
What is Fmf Disease?
The disease, whose English abbreviation is FMF (Familial Mediterranean Fever), is a hereditary disease, which is defined as Familial Mediterranean Fever. As the name suggests, it is commonly seen in countries bordering the Mediterranean, such as Turkey, TRNC, Cyprus, Palestine, Syria, Jordan, and Greece in the Middle East. fmf was first diagnosed in 1945 and in 1972, the therapeutic power of colchicine, which is almost the only treatment drug for the disease, was determined. As a result of the studies carried out in 1997, the presence of a mutation in the 16th chromosome, which revealed that Fmf is a genetic disease, was determined.
The main symptoms of Fmf disease usually appear in adolescence and childhood. It is more common in men than in women. If Mediterranean Fever (FMF) is not treated or adequately treated, fmf continues throughout the person’s life.
What are the Fmf Symptoms?
Joint, abdominal or chest pain that occurs monthly, weekly or every few months in some people and usually lasts 24-48 hours,
Associated with the reaction of cells such as the pleura, peritoneum, joint and cerebral cortex; It can be confused with complaints such as abdominal pain, headache, chest and back pain and joint pain. People who are exposed to some fmf disease can be treated and operated with the diagnosis of appendicitis or tonsillitis unnecessarily. They can also be diagnosed with rheumatism.
Rarely, rashes and redness in the form of red spots may occur in the joint areas.
Fever above 39 degrees can be seen.
In some infectious and febrile episodes, the accumulation of protein in the body can lead to a condition called amyloidosis.
This condition can impair the function of all vessels and cause chronic kidney failure.
How to Diagnose Fmf Disease
There is no clear method to make a definitive diagnosis for the diagnosis of Fmf Disease. During an Fmf attack, an increase is observed in the tests called Sedimentation, hs-CRP, Leukocyte and Fibrinogen in the blood. In the full urinalysis, an increase in the amount of Ketone is observed as a result of the secretions. In the advanced stages, protein leakage is detected in the kidneys. In other words, protein increases in urinalysis. FMF Gene Mutation genetic tests can be performed, which is a new and reliable method to determine whether there is a genetic predisposition.
How is Fmf Treatment?
A person diagnosed with Fmf disease has to take Colchicine Medication for life. Colchicine treatment is effective in preventing FMF attacks and preventing amyloidosis formation.
What is Mediterranean Anemia? ( THALASSEMIA )
Mediterranean Anemia is a genetically transmitted disease, which is very common in the Mediterranean Region, as we have explained in FMF Disease above. Another name for this disease is Thalassemia. There are two types of Mediterranean Anemia (Thalassemia), major and minor. Major (Thalassemia) Mediterranean Anemia is a serious anemia disease that begins to show symptoms in early childhood. The patient must be constantly given blood from outside. Minor (Thalassemia) Mediterranean Anemia is having a mutated gene, that is, being a carrier. In fact, it is an anemia disease that is not as severe as the other. It does not need to be treated.
Why Does Mediterranean Anemia Occur?
In order for a person to have Mediterranean Anemia (Thalassemia), the mother or father must be a carrier, that is, have minor Mediterranean Anemia (Thalassemia).
What are the Symptoms of Mediterranean Anemia?
- Weakness / Weakness
- Decreased or increased appetite
- Changes in facial bones
- Swelling in the abdomen
- Jaundice in the eyes
- Symptoms such as enlargement of the spleen may occur.
How is Mediterranean Anemia Treated?
- Performing a blood transfusion
- Removal of the spleen when necessary
- Finally, bone marrow transplantation can be performed.
FMF DNA Test Prices
Three different test panels are applied in our center for the diagnosis of Familial Mediterranean Fever (FMF).
