Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease that is more common in people living in Mediterranean regions. The disease is characterized by inflammatory attacks that are triggered spontaneously in the body as a result of genetic mutations. The disease causes recurrent attacks characterized by high fever, abdominal pain and joint inflammation. Diagnosis is based on clinical symptoms, family history and genetic testing. Colchicine, which is widely used in treatment, controls attacks, reduces inflammation and reduces the risk of amyloidosis. However, treatment should be individualized.
The disease is usually diagnosed in childhood, but it is a lifelong condition. Early diagnosis is important for effective treatment of the disease. Therefore, individuals with recurrent complaints should be followed up regularly.
What are the Causes of Familial Mediterranean Fever (FMF)?
Familial Mediterranean Fever (FMF) has a genetic origin and is associated with mutations in the MEFV gene. This gene controls the production of an inflammatory regulatory protein called pyrin. Genetic mutations in FMF patients disrupt the normal function of pyrin, leading to recurrent inflammation in the body.
The disease is particularly common in certain ethnic groups living in the Mediterranean region and occurs in individuals with a genetic predisposition. However, environmental triggers, such as infections or stress, may also play a role.
The causes of FMF involve the interaction of genetic and environmental factors, but the exact mechanism is still not fully understood.
What are the Symptoms of Familial Mediterranean Fever (FMF)?
Familial Mediterranean Fever (FMF) is a genetic disease characterized by recurrent inflammatory attacks. Symptoms of the disease usually start in childhood and can persist throughout life. The main symptoms of this disease are as follows:
Recurrent High Fever: Recurrent high fever, which is prominent during FMF attacks, is a prominent symptom of the disease.
Abdominal Pain: Abdominal pain caused by inflammation of the lining of the abdomen is a characteristic symptom of the disease.
Joint Pain and Swelling: FMF manifests itself with arthritis-like symptoms, causing joint pain and swelling.
Chest Pain: Chest pain caused by pericardial inflammation during attacks is among the other symptoms of the disease.
Symptoms Associated with Amyloidosis: FMF can cause organ damage due to the accumulation of a protein called Amyloidosis. This can also be observed as a consequence of the disease.
How is Familial Mediterranean Fever (FMF) Diagnosed?
Familial Mediterranean Fever (FMF) is diagnosed based on the patient's symptoms, genetic testing, family history assessment and laboratory tests. Typical symptoms include recurrent high fever, abdominal pain and joint pain.
Family history is important in determining the patient's genetic predisposition and genetic testing is specifically aimed at detecting mutations in the MEFV gene. Laboratory tests help to assess the level of inflammation in the body, while immunologic tests can be used to confirm the diagnosis of FMF.
The diagnosis of FMF is usually performed by Rheumatologists and is based on the patient's clinical history, symptoms and genetic test results. This multi-method diagnostic process is important for accurately identifying the disease and formulating an effective treatment plan.
How is Familial Mediterranean Fever (FMF) Treated?
Treatment of Familial Mediterranean Fever (FMF) focuses on relieving symptoms and preventing attacks. Colchicine is the main drug for FMF and controls attacks by reducing inflammation. In some cases, additional anti-inflammatory or immunosuppressive drugs may be used.
Regular monitoring for the risk of amyloidosis and additional treatments if necessary. A healthy lifestyle is part of the treatment and regular exercise, a balanced diet and stress avoidance support the overall health of patients.
Treatment plans are individualized and tailored to the patient's symptoms and health status. Patients should stay in regular contact with their doctor and follow their treatment plan.
Special circumstances, such as pregnancy planning, may require a review of the treatment plan. This holistic treatment approach aims to improve the quality of life of FMF patients.