What is Familial Mediterranean Fever (Fmf)? Fmf Symptoms
Familial Mediterranean Fever (FMF); It is a disease characterized by painful inflammation in the abdomen, lungs and joints and recurrent fever. This disease is genetically based; It is more common in people of Turkish, Arab, Jewish, Armenian, North African, Greek and Italian ethnic origins. Although it is more common in groups of Mediterranean origin, FMF disease 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 Ephemeral disease, 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 entering the body and helps 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 subside when the attack ends. Inflammation during attacks may be accompanied by problems such as fever, headache, and rash.
Some of the questions frequently asked by patients and their relatives are ‘What is FMF, what causes FMF disease?’ It is in the form. 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 in this gene, called the MEFV gene. While some mutation types cause more severe FMF disease, some mutations result in a mild form of FMF disease.
Familial Mediterranean Fever is an autosomal recessive genetic disorder. A parent with a mutated MEFV gene can pass this gene on to his child. In order for a person to have FMF, they must have two copies of the mutated gene. People who carry one mutated and one normal copy of the MEFV gene do not show symptoms of the disease, but these people are called FMF carriers. Children born to two FMF carriers have a 25% chance of having FMF. The children of two carrier parents also have a 50% chance of being carriers. The probability of having a child born to these parents who do not carry the mutated MEFV gene is 25%. As a result, the risk of Familial Mediterranean Fever is increased in people who have FMF carriers or patients in their families.
The first attack of Familial Mediterranean Fever usually occurs in childhood or adolescence. Therefore, patients are largely diagnosed during this period. There is no definitive solution to completely eliminate FMF disease. However, by properly applying the treatment plan, it may be possible to relieve symptoms during an attack or prevent an attack.
What are the symptoms of Familial Mediterranean Fever (FMF) Disease?
Symptoms of Familial Mediterranean Fever disease usually begin to appear in childhood. In this disease, symptoms are recurring. FMF symptoms:
- Fire
- Stomach ache
- chest pain
- Aching, swollen joints
- Red rash, especially concentrated below the knee
- It can be listed as testicular swelling and tenderness.
Symptoms appear in patients during a 1-3 day period called an FMF attack. Symptoms of arthritis can last for weeks. Patients go through the period between attacks without any symptoms. This symptom-free period may last for a few days or for years.
To diagnose Familial Mediterranean Fever, the patient is first examined and his medical history is taken. Situations such as the patient having symptoms suggestive of FMF and these symptoms progressing in a recurring pattern, or having someone in the patient’s family with FMF; These are very important findings for the diagnosis of Familial Mediterranean Fever.
If the patient consulted a doctor during an attack, blood tests can also guide diagnosis. During an attack, there is an increase in markers indicating inflammation in the blood, and this increase can be detected by blood test.
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. Therefore, the absence of mutation in the MEFV gene in the patient’s genetic test does not mean that the patient definitely does not have FMF.
Siblings of people diagnosed with FMF, if any, can also be screened for FMF. In this way, a possible FMF disease in siblings is not missed and diagnosed early.
How is Familial Mediterranean Fever (FMF) Treated?
There is no treatment that will completely cure Familial Mediterranean Fever. The main goal when planning FMF treatment is to alleviate the patient’s symptoms during the attack. Symptom-oriented FMF attack treatment can be performed in patients who show severe symptoms during the attack. In attack treatment; For hydration, intravenous (IV) fluid supplementation (serum insertion), inflammation-reducing NSAID group drugs, and painkillers such as paracetamol may be preferred.
Colchicine is used for long-term treatment of FMF disease. Colchicine is a medication 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 the drugs in this group. Familial Mediterranean Fever is a disease that can cause major problems if left untreated.
Complications that may occur due to untreated FMF are as follows:
Presence of Abnormal Protein in the Blood: During attacks of FMF disease, an abnormal protein called ‘Amyloid A’ is produced in the body. This protein accumulates in the body, causing organ damage (amyloidosis).
Kidney Damage: Kidney damage may occur due to amyloid A accumulation, that is, amyloidosis. This damage leads to a problem called nephrotic syndrome. In nephrotic syndrome, deteriorations occur in the glomerulus structure, which performs the filtration function of the kidney. Nephrotic syndrome patients excrete high amounts of protein in their urine. In the long term, nephrotic syndrome can lead to blood clots in the kidney and kidney failure. When the patient develops kidney failure, kidney transplantation may be required for treatment.
Infertility in Women: Excessive inflammation seen in Familial Mediterranean Fever can also affect the female reproductive organs and cause infertility.
Joint Pain: The rate of arthritis (joint inflammation) development is high in FMF patients. Knee, elbow, ankle and hip joints; These are the joints where arthritis is most common.
It is of great importance for FMF patients and their relatives to follow the treatment process more consciously and to be informed about the progression of the disease. For this reason, these people can consult a doctor and read sources such as books and web pages to obtain 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 left untreated. For this reason, the treatment of the disease must be carried out without interruption, starting from the early period. It would also be beneficial for the patient to be followed by rheumatology departments for arthritis, gynecology departments for infertility, and nephrology departments for kidney damage.
