The condition known as familial Mediterranean fever is a genetic or inherited condition. It involves a mutation in the MEFV gene and most generally occurs in people of Mediterranean ancestral origins. This includes peoples such as Italians, Sephardic Jews, Armenians, and Greeks. However, it can actually affect people of any ethnic background.
Familial Mediterranean fever is an inflammatory condition. It can cause serious pain and inflammation throughout the body, particularly in a person’s joints, lungs, and abdominal area. The genetic mutation in the MEFV gene causes a problem with the protein in the body that helps to stop or counteract the immune system’s inflammatory response to an injury or illness which can cause a person to experienced long-term inflammation or inflammation without cause.
The first time a person experiences what is known as an attack due to familial Mediterranean fever is usually sometime during their childhood, but not always. Attacks vary in duration (generally 12 to 72 hours) and frequency. These attacks can cause protein buildups in the person’s organs which may cause significant damage.
Pain and inflammation are, of course, the primary symptoms of familial Mediterranean fever. This generally occurs in the joints as well as in the abdominal cavity and chest. High fevers usually accompany familial Mediterranean fever attacks. A person may also develop a red rash or skin lesions as well as muscle aches, constipation, and then diarrhea.
Familial Mediterranean fever is caused by a mutation in a gene called MEFV. You inherit two copies of this gene, one from each parent. In most cases of familial Mediterranean fever, both copies of the gene must have the mutation for the disease to develop. In rare cases, people can develop familial Mediterranean fever with only one copy of the mutated gene.
The effect of this gene mutation is to change the action of a protein called pyrin, which is involved in reducing inflammation in the body. This triggers the symptoms associated with the disease.
As noted above, the mutated genes are almost always inherited. Therefore, people with a family history of the disease are at greater risk of developing it. The disease is also more common in people of Mediterranean descent. In very rare cases it is possible for the mutation to develop spontaneously.
The focus of familial Mediterranean fever treatment is to deal with attacks and to try to prevent them.
It is also to prevent protein deposits from developing in the organs which is a condition known as systemic amyloidosis. This is primarily accomplished with anti-inflammatory medications. A prescription drug known as colchicine is the most commonly prescribed drug for familial Mediterranean fever. However, other anti-inflammatory medications may also be used to treat and prevent attacks.
In almost all cases, a person must possess two copies of the mutated MEFV gene. Each parent may be a carrier — possessing one version of the gene but not developing the disease themselves. In these cases, whether the parent passes their mutated version of the gene or the unmutated version is completely random. Therefore, there is no preventive measure that can be taken during or before pregnancy that causes the non-mutated version of the gene to be inherited. Gene therapy may one day be able to facilitate this, but this research field is in its early phases.
However, where people have been confirmed to possess both copies of the mutated gene, the drug Colchicine can be given as a secondary preventive measure. This can prevent the symptoms of familial Mediterranean fever from developing, but the risk will always be present and individuals will have to take Colchicine throughout their whole life.