Familial Mediterranean Fever (FMF); It is a disease characterized by painful inflammation and recurrent fevers in the abdomen, lungs and joints. This genetically based disease; It is more common in people of Turkish, Arab, Jewish, Armenian, North African, Greek, and Italian ethnicity. Although it is more common in Mediterranean origin groups, FMF is a disease that can be encountered in people of all races.
What is Familial Mediterranean Fever (FMF) Disease?
Familial Mediterranean Fever, also known as FMF or efemef disease in the community, is an autoinflammatory disease. Inflammation or inflammation under normal conditions; It is a mechanism that is seen in situations such as a microorganism or foreign body that enters the body and helps to limit infection and damage in the body. However, in FMF disease, the inflammation control mechanism in the body is disrupted. As a result, inflammation occurs even in situations where inflammation should not normally occur.
In Familial Mediterranean Fever; Painful inflammation occurs in the abdomen, chest, pelvis and joints. These inflammations progress in attacks. In other words, while the patient's inflammation and pain intensify during an FMF attack, these symptoms are relieved when the attack is over. Inflammation may be accompanied by problems such as fever, headache, and rash during attacks.
A few of the questions frequently asked by patients and their relatives are as follows: "What is FMF, what causes FMF disease?" FMF is caused by a mutation in a gene that controls inflammation in the body. Mutations that cause FMF disease can occur at many different points of this gene, which is called the MEFV gene. While some mutation types cause more severe FMF disease, some mutations result in mild FMF disease.
Familial Mediterranean Fever is an autosomal recessive genetic disorder. A parent with a mutated MEFV gene can pass it on to their child. In order for a person to have FMF, they must have two copies of the mutated gene. People who carry a mutation and a normal copy of the MEFV gene do not show symptoms of the disease, but these people are called FMF carriers. Children born to two individuals who are FMF carriers will have a 25% chance of having FMF. Children of two surrogate parents A bee has a 50% chance of being a carrier. The probability of giving birth to a child who does not carry the mutated MEFV gene from these parents is 25%. As a result, the risk of FMF is increased in people who have FMF carriers or patients in their family.
The first attack of Familial Mediterranean Fever usually occurs during childhood or adolescence. Therefore, patients are mostly diagnosed during this period. There is no definitive solution to completely eliminate FMF disease. However, it may be possible to alleviate the symptoms during an attack or to prevent an attack by following the treatment plan properly.
What are the Symptoms of Familial Mediterranean Fever (FMF) Disease?
Symptoms of Familial Mediterranean Fever usually begin to appear in childhood. Symptoms in this disease are recurrent. FMF symptoms:
- Fever
- Abdominal pain
- Chest pain
- Aching, swollen joints
- Concentrating especially below the knee red-colored rash
- Testicular swelling and tenderness can be listed as.
For the diagnosis of Familial Mediterranean Fever, first of all, the patient is examined and medical history is taken. Conditions such as the presence of symptoms suggestive of FMF in the patient and the progression of these symptoms in a recurring order, the presence of a patient with FMF in the patient's family; These are very important findings for the diagnosis of familial Mediterranean fever.
If the patient applied to the doctor during an attack, a blood test can also guide the diagnosis. During an attack, there is an increase in markers indicating inflammation in the blood, and this increase can be detected by blood analysis.
Genetic testing is another method that can be used in the diagnosis of FMF. In this method, also known as the FMF test, genetic studies can be performed to show mutations in the MEFV gene. However, there are many types of mutations in the MEFV gene that can cause Familial Mediterranean Fever. It may not be possible to detect all of these mutations in routine genetic studies. This Therefore, the absence of a mutation in the MEFV gene in the genetic test of the patient does not necessarily mean that the patient does not have FMF. Siblings of people diagnosed with
FMF, if any, can also be screened for FMF. Thus, a possible FMF disease in siblings is not missed and diagnosed early.
How is the Treatment of Familial Mediterranean Fever (FMF)?
There is no treatment that can completely cure Familial Mediterranean Fever. The main purpose when planning FMF treatment is to alleviate the patient's symptoms during the attack. Symptom-oriented FMF attack treatment can be performed in patients with severe symptoms during an attack. In the treatment of attacks; For hydration, intravenous (IV) fluid supplementation (serum insertion), anti-inflammatory NSAID group drugs and pain relievers such as paracetamol can be preferred.
Colchicine is used for long-term treatment of FMF disease. Colchicine is a drug that helps reduce inflammation and prevent attacks. The dose adjustment of the drug, which is in pill form, is made according to the severity of FMF in the patient. Bloating, abdominal cramps and diarrhea; It is among the most common side effects of colchicine. In patients who do not benefit from
colchicine, drugs that prevent the protein called Interleukin-1 from functioning are used. Interleukin-1 is a protein involved in inflammation, and stopping this protein helps reduce inflammation. Canakinumab, Rilonacept and Anakinra are drugs in this group. Familial Mediterranean Fever is a disease that can cause great problems if not treated.
Complications that may occur due to untreated FMF are as follows: During attacks, an abnormal protein called 'Amyloid A' is produced in the body. This protein accumulates in the body and causes organ damage (amyloidosis). This damage leads to a problem called nephrotic syndrome. In nephrotic syndrome, disruptions occur in the glomerulus structure, which performs the filtration function of the kidney. Nephrotic syndrome patients excrete a high percentage of protein in the urine. In the long term, nephrotic syndrome can lead to blood clot formation in the kidney and kidney failure. The patient developed renal failure. Kidney transplantation may be required for treatment.
Female Infertility (Infertility): The excessive inflammation seen in FMF may affect the female reproductive organs and cause infertility.
Joint Pain: The rate of development of arthritis (joint inflammation) is high in FMF patients. Knee, elbow, ankle and hip joints; It is of great importance that FMF patients and their relatives follow the treatment process more consciously and have information about the progression of the disease. For this reason, these people can consult a doctor and read resources such as books and web pages where they can get information about FMF. In this way, it is possible for the patient and their relatives to actively participate in the treatment plan.
FMF disease can cause serious consequences if not treated. For this reason, the treatment of the disease should be carried out without interruption, starting from the early period. In addition, it would be beneficial for the patient to be followed up by rheumatology in terms of joint inflammation, obstetrics in terms of infertility, and nephrology in terms of kidney damage. You can ask the expert team of Group Florence Nightingale Hospitals about the subjects you are wondering about
FMF, and you can ask for suggestions regarding your question. You can use the contact form on our website to reach us.
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