Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease, and pyrin may stop or slow down the inflammatory process once it is no longer needed. It is thought that this protein plays a role in keeping inflammation under control. The MEFV gene normally provides instructions for making a protein called pyrin, which is found in white blood cells called granulocytes. Over 80 different pathogenic variants in the MEFV gene are known to cause FMF. There is nothing either parent can do before or during a pregnancy to cause them. Pathogenic variants are usually inherited from one or both parents. Changes in genes that are responsible for causing disease are also called pathogenic variants, or mutations. This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.įamilial Mediterranean fever (FMF) usually is caused by changes in both copies of a person's MEFV gene. However, without treatment to help prevent attacks and complications, a buildup of protein deposits (amyloidosis) in the body's organs and tissues may occur, especially in the kidneys, which can lead to kidney failure. During these periods, affected individuals usually have no signs or symptoms related to the condition. The length of time between attacks is also variable and can range from days to years. Typically, episodes last 12 to 72 hours and can vary in severity. The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Occasionally inflammation may occur in other parts of the body, such as the heart the membrane surrounding the brain and spinal cord and in males, the testicles. These episodes are often accompanied by fever and sometimes a rash or headache. Listen Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints.
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