Familial Mediterranean Fever (FMF) is among the most common genetically transmitted autoinflammatory diseases seen in Türkiye and the Mediterranean region. Symptoms usually begin to appear in childhood or adolescence. Early diagnosis and regular continuation of treatment under the supervision of a specialist physician can significantly influence the course of the disease.
What Is Familial Mediterranean Fever (FMF)?
Familial Mediterranean Fever (FMF) is a hereditary disease characterized by recurrent attacks of high fever and pain due to inflammation developing in the membranes of the abdomen, chest, and joints.
The most prominent feature of the disease is that it progresses in periodic “attacks.” Attacks usually resolve spontaneously within 1 to 3 days; during attack-free periods, the person may not experience any symptoms.
Causes of Familial Mediterranean Fever
Familial Mediterranean Fever develops as a result of a mutation in the MEFV gene. This mutation causes the immune system to fail to properly regulate the inflammatory response; as a result, recurrent inflammatory attacks can occur in the body without any infection.
The disease is transmitted hereditarily. For symptoms to appear, this gene alteration generally needs to be inherited from both parents. A mutation inherited from only one parent often does not cause symptoms; however, in rare cases mild complaints may be seen.
Factors That May Trigger Attacks
The following factors may trigger an attack in individuals with a genetic predisposition; these factors do not cause the disease itself:
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Infections
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Intense emotional stress
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Excessive physical exertion
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Exposure to cold
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Menstrual period in women
What Are the Symptoms of Familial Mediterranean Fever?
Symptoms occur in attacks and usually last 1 to 3 days. Complaints related to joint involvement may persist beyond this period and in some cases may continue for weeks.
Fever
Recurrent high fever is the most prominent sign of FMF. Fever usually begins suddenly and accompanies other symptoms.
Abdominal Pain
Severe abdominal pain may occur due to inflammation of the peritoneum. This condition can sometimes be confused with appendicitis or other acute abdomen conditions.
Chest Pain
Inflammation of the pleura surrounding the lungs may lead to chest pain that worsens with breathing.
Joint Pain and Swelling
Pain and swelling may be seen in the knee, ankle, and hip joints. Compared with other symptoms, joint involvement may last longer; in some patients, joint complaints persisting for several weeks are observed.
Skin Findings
Red, painful, and well-demarcated skin rashes may develop on the legs, particularly around the ankles.
Who Is Affected by Familial Mediterranean Fever (FMF)?
Familial Mediterranean Fever can affect individuals of any age and sex. However, certain characteristics are more prominent:
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In the vast majority of patients, symptoms begin before the age of 20, most often during childhood.
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It is more common in Mediterranean and Middle Eastern populations; however, individuals of any ethnic background may be affected.
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Having family members diagnosed with FMF may increase the likelihood of the disease occurring in other relatives.
How Do FMF Symptoms Present in Children?
FMF symptoms mostly appear before the age of 20, often manifesting during childhood. In children, recurrent and unexplained fever attacks are the most important clue. In addition, abdominal pain, joint swelling, and fatigue are among the common findings.
Considering that these symptoms in childhood can easily be mistaken for other causes, it is recommended to consult a rheumatology or pediatric rheumatology specialist in the case of recurrent attacks.
Is FMF Dangerous? What Happens If It Is Not Treated?
If FMF is not monitored by a specialist physician, it may lead to serious complications. One of these complications is amyloidosis.
Amyloidosis is a complication that develops when amyloid, an abnormal protein in the blood, accumulates in organs and affects various organs, especially the kidneys. In FMF cases that are untreated or irregularly followed, it may progress to kidney failure.
For this reason, individuals who are diagnosed are advised to continue their treatment regularly and not to neglect physician follow-up visits.
How Is Familial Mediterranean Fever (FMF) Diagnosed?
The diagnosis of FMF is primarily based on clinical evaluation; laboratory and genetic tests support this process.
Clinical Evaluation
Rheumatology or pediatric rheumatology specialists aim to reach a diagnosis by evaluating together such information as the frequency and duration of attacks, which areas are affected, and family history. The Tel-Hashomer criteria, which are widely used internationally, serve as a guide in this evaluation. These criteria constitute a diagnostic framework based on clinical findings such as the frequency and duration of attacks, the regions affected, and family history.
Genetic Testing
Genetic testing aimed at detecting mutations in the MEFV gene can be performed to support the diagnosis.
Blood Tests
During attacks, elevations in inflammatory markers such as CRP, erythrocyte sedimentation rate, and white blood cell count may be detected.
How Is Familial Mediterranean Fever (FMF) Treated?
The main goals in FMF treatment are to reduce the frequency and severity of attacks, to suppress chronic inflammation during attack-free periods, and to prevent long-term complications, particularly amyloidosis.
For this purpose, colchicine treatment may be initiated by a rheumatology specialist. Colchicine is the primary treatment for FMF and is used regularly not only during attacks but also in asymptomatic periods. Adherence to treatment is critically important for reducing the risk of complications.
In some patients, an adequate response to colchicine may not be achieved. In such cases, the specialist physician may reassess the treatment plan by considering alternative therapies, including biological agents.
Management of Triggering Factors
In addition to medical treatment, minimizing factors that may trigger the disease facilitates management of the condition:
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Stress management: Intense emotional stress can be a significant trigger. Stress management techniques and, when necessary, psychological support may contribute to the process.
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Physical activity: Instead of exercises that require excessive exertion, regular and light-intensity physical activities are recommended.
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Protection from infections: Infections can stimulate the immune system and trigger an attack; therefore, attention to general hygiene and immune health is recommended.
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Regular sleep and balanced nutrition: These help maintain overall body resistance.
When Should a Doctor Be Consulted?
It is recommended to seek medical attention in the presence of the following situations:
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Recurrent and unexplained fever attacks
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Abdominal, chest, or joint pain during attacks
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Presence of family members diagnosed with FMF
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Recurrent similar symptoms in children
