Familial Mediterranean fever (FMF) is a genetic disease prevalent in the south-east of the Mediterranean. It is an auto-inflammatory disease, characterized by recurrent episodes of fever and serum. This causes pain in the abdomen, chest, joints and muscles. It is estimated that it affects about 1 person every 200-1,000.

The disease is divided into type 1 and type 2. Type 1 occurs at a young age and is the most severe. The second type is instead less severe and occurs in the first 30 years of age. Both types are characterized by fever attacks that tend to disappear by themselves in 1-4 days. Depending on the severity of the disease, it ranges from about 1 fever attack per week to 1 every 2-3 years.

The triggers of fever attacks can also be mild. Stress and menstruation are among these, for example. Sometimes even a slightly richer fat meal and exposure to the cold are enough. Usually the attacks are preceded by a series of symptoms lasting about 17 hours. The subject begins to feel myalgia, nausea, low back pain, anxiety. Then the body temperature rises to 38-40 ° and appear abdominal pain, arthralgia and chest pain. Fever of this type is refractory to antibiotics.

The causes of familial Mediterranean fever are genetic. The scientists identified 218 mutations of MEFV related to the disease, transmissible by autosomal recessive. The disease then manifests itself only if both parents are carriers and transmit the mutated gene. The latest research, however, hypothesize the involvement of other genes over MEFV.

Diagnosis is made by analyzing clinical data and, in case of doubt, by genetic testing. For the moment there is no cure for this disease, but only symptomatic treatments. Colchicine reduces fever attacks and related complications. Patients should take it for life and some of them are intolerant to the drug. In this case, there are no alternatives.

Source: orpha.net