Rarely, children have recurrent pericarditis (inflammation of the outer layer of the heart), myositis (muscle inflammation), meningitis (inflammation of the membrane surrounding the brain and spinal cord) and orchitis (testicular inflammation). Some children report muscle pain in the legs. In about 5 to 10 percent of cases the joint involvement may become chronic. Usually, the joint swelling resolves over five to 14 days. In some children, the sole finding of the disease may be episodes of joint pain and swelling, which is misdiagnosed as acute rheumatic fever, or juvenile idiopathic arthritis. In about a third of these patients there is a red rash over the involved joint. The joint may be so swollen and painful that the child cannot walk. Usually, only one joint is affected at a time, most commonly an ankle or a knee. The chest pain may be so severe that it may be difficult to breathe deeply. For example, severe abdominal attacks may mimic acute appendicitis and therefore some patients may undergo abdominal surgery, such as an appendectomy. Some of the attacks may be so painful that the patient or family seeks medical help in the emergency department.
Most children are totally normal between episodes, but some children have such frequent episodes they do not fully recover or do not grow properly. Episodes resolve without treatment and usually last between one and four days. Not all children will have all symptoms and symptoms may change over time. If one of the children has FMF and also one of the parents has FMF, there is a 50 percent chance of another child getting FMF. If one child has the disease and the parents are carriers, there is a 25 percent chance another child will get FMF. Often somebody in the extended family has the disease. In this case, the child receives two mutated genes, one from the mother and the other from the father. How is FMF inherited?įMF is inherited as an autosomal recessive disease (which means that while the child may have the disease, neither parent needs to show symptoms of the disease). Infection, trauma, menses (periods) or psychological stress may trigger episodes. When this gene has a defect, the regulation of inflammation cannot be done properly and patients experience episodes of fever and other symptoms.
The responsible gene is called the MEFV gene, named after the Mediterranean Sea, and it affects a protein called pyrin, which plays a role in the natural control of inflammation. What causes FMF?įMF is a genetic disease. In more than half of them the disease appears before the age of 10 years. FMF episodes start before the age of 20 years in approximately 90 percent of the patients. Since the discovery of the gene defect, it is being diagnosed more frequently, even among populations where it was thought to be very rare, such as Italians, Greeks and Ashkenazi Jews. The disease generally affects people of Mediterranean and Middle Eastern descent, typically Sephardic Jews, Turks, Arabs and Armenians. Patients suffer from recurrent episodes of fever, accompanied by abdominal, chest and joint pain, and swelling. Familial Mediterranean Feverįamilial Mediterranean fever (FMF) is the most common periodic fever syndrome. Many of these syndromes have a specific treatment, often based on understanding the problem caused by the genetic defect.
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Many of these syndromes are hereditary (passed down from parents) and result from a mutation (defect or mistake) in a gene (this is the code that determines the structure of our proteins). In general, children with these syndromes are well between episodes. Periodic fever syndromes refer to diseases that cause periodic (episodic) fever that do not have an infectious (virus, bacteria) cause.
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