Mediterranean Fever in Children

Familial Mediterranean Fever is an inflammatory condition that causes numerous symptoms in the people it affects. It is not a contagious disease, but rather an inherited one, and generally manifests itself in children before the age of 18. While it is incurable thanks to its genetic origins, it is treatable and prognosis is generally positive if treatment regimens are followed.

Causes and Etymology

Familial Mediterannean Fever is caused by a mutation on the 16th chromosome, in a gene known as MEFV. The MEFV gene contains the code for a protein called pyrin, which is responsible for regulating inflammation in the body. Without pyrin, inflammatory responses can grow out of control. Mediterreanean Familial Fever gets its name from the fact that it is much, much more prevalent in Arabs and Jews of North Africa, as well as in Armenians.

Symptoms of the Disease in Children

Familial Mediterranean Fever causes systemic inflammation, and this lends itself to a myriad of symptoms in children. By far the most common symptom is abdominal pain, experienced by more than 80 percent of children with the disease. Chest pain and arthritis affect more than 40 percent of children, with severe muscle pain (myalgia), skin rashes, recurring fever and scrotal swelling (in males) affecting much smaller numbers of patients (3 to 12 percent). Very small numbers of children experience organ issues such as renal or liver complications.

Diagnosis

Generally, diagnosis of Familial Mediterranean Fever is exclusionary, in that tests are performed to rule out other possible causes of the inflammation caused by the disease. If all other possible alternatives are exhausted, a diagnosis can be made. Some blood tests may also be used during an inflammatory attack, as the presence of some chemicals or proteins in the blood may be affected. Chromosome analysis may also aid in diagnosis.

Treatment of the Disease in Children

Because it is a hereditary disease, there is no known cure for Familial Mediterranean Fever. Any treatment undergone is intended to relieve the symptoms, not the cause. Anti-inflammatory drugs are often used during an attack to reduce inflammation until the patient is again comfortable. The gout medication colchicine has been shown to greatly improve the quality of life of both children and adults with the disease, reducing the frequency and severity of attacks. How colchicine works to systemically reduce symptoms of the disease is unknown.

Prognosis

Familial Mediterranean Fever is a genetic disorder, so treatment is done to reduce symptoms and not cure the condition itself. Despite this, children with the condition can be expected to lead full and productive lives with little interference from attacks of the disease if the prescribed treatment regimen is followed properly. The disease rarely causes complications or death, although it has happened. Generally, colchicine and supplementary anti-inflammatory treatment is enough to keep children and adults comfortable throughout their lives.