Mediterranean fever

Mediterranean fever, also known as Familial Mediterranean Fever (FMF), is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid protein called pyrin. While most commonly found in populations around the Mediterranean Sea, it can affect individuals of any ethnic background.

Symptoms and signs

The disease is characterized by recurrent episodes of fever and acute inflammation in the abdomen, chest, and joints. These episodes are often accompanied by fever and sometimes a rash or headache. In between episodes, the patient does not experience any symptoms and feels well.

Cause

The cause of FMF is a mutation in the Mediterranean fever gene (MEFV). The MEFV gene produces an important protein, pyrin, which controls inflammation in the body. Mutations in the MEFV gene cause pyrin to malfunction, leading to uncontrolled inflammation and the symptoms of FMF.

Diagnosis

Diagnosis of FMF is based on clinical criteria (recurrent fevers, pain, and inflammation), and can be confirmed with genetic testing. A positive genetic test in the absence of typical clinical features, however, does not necessarily confirm the diagnosis.

Treatment

Treatment for FMF primarily involves managing symptoms during an attack and preventing attacks with medication. Colchicine, a drug that reduces inflammation, is the most common treatment.

Prognosis

With treatment, most individuals with FMF can lead normal lives. However, a small number of people may develop amyloidosis, a serious condition that can lead to kidney failure.

See also

• Autoinflammatory diseases
• Genetic disorder
• Inflammation