Familial Mediterranean Fever (FMF) is an autoinflammatory genetic disease most commonly found in populations around the Mediterranean Sea, hence its name. However, it can affect individuals from any ethnic group.
What is FMF?
FMF is characterized by recurrent episodes of fever and painful inflammation in the abdomen, chest, or joints. These episodes, also known as attacks, can last from a few hours to a few days and are often accompanied by a skin rash. The frequency and severity of these attacks can vary significantly from person to person.
Causes of FMF
FMF is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin. Pyrin helps regulate inflammation in the body. Mutations in the MEFV gene result in the production of an abnormal pyrin protein, leading to uncontrolled inflammation and the symptoms of FMF.
Symptoms of FMF
The most common symptoms of FMF include:
- Recurrent fevers
- Abdominal pain
- Chest pain
- Joint pain
- Skin rash
Symptoms usually begin in childhood or adolescence, but in some cases, they may not appear until adulthood. Similar symptoms usually can be found in the family history.
Diagnosis of FMF
Diagnosing FMF can be challenging due to the variability in symptoms and their episodic nature. Diagnosis is typically based on clinical signs, response to treatment and may be confirmed by genetic testing to identify mutations in the MEFV gene.
Treatment of FMF
While there is currently no cure for FMF, treatments are available to help manage symptoms and prevent complications. The most common treatment is colchicine, which helps reduce inflammation and prevent attacks.
Living with FMF
Living with FMF can be challenging, but with the proper treatment and support, most individuals with FMF can lead healthy and productive lives. Regular follow-ups with healthcare providers, a healthy lifestyle, and a strong support network can significantly improve the quality of life for individuals with FMF.
If you or a loved one has been diagnosed with FMF, remember you are not alone. Join our Community to connect with others who understand what you’re going through.