What is FMF

 

Background

Familial Mediterranean Fever (FMF) is an uncommon inflammatory condition caused by a genetic mutation. FMF was diagnosed as a disease for the first time in 1945. It is a rare, genetic condition that is the most prevalent of a group of related "autoinflammatory" syndromes characterized by a fault in the inflammatory response's regulation. A wide range of aberrant inflammatory symptoms result from this condition. The MEFV gene, which is found on the short arm of chromosome 16, was discovered to be the site of numerous mutations that cause FMF in 1992. These mutations prevent the formation of pyrin, a protein that inhibits the inflammatory response, resulting in inflammatory flare-ups or "attacks" with fever on a regular basis. The acute episodes of inflammation are periodic and repeated, which is a key feature of the disease.

Symptoms

FMF symptoms can develop at any age, but they are more common in early infancy and less frequently in later life; 80 percent of cases are identified before the age of ten, and 90 percent before the age of twenty. However, elderly individuals' FMF may not be identified as accurately, and its relative frequency may be disproportionately underestimated in this population.

The most well-known symptom of FMF is recurrent fevers, which is why it's also known as "periodic fever syndrome." Fevers can be severe or mild, and they can occur several times a month or only once a month, lasting up to 13 days.

Inflammatory attacks caused by FMF recur.
Fevers are frequently associated with other inflammatory symptoms. Classic symptoms include episodes or "attacks" of severe stomach pain (sterile peritonitis) with periods of healing in between. The assaults might occur as frequently as once a week or as infrequently as a few times a year or less. Although abdominal discomfort and fever are the most common symptoms, FMF's inflammatory targets are the "serous" membranes that line bodily cavities and joints and surround important organs. Pleuritis (thoracic pain), pericarditis (pain around the heart), synovitis (joint pain), and, as previously indicated, peritonitis can all develop from inflammatory events involving any of these membranes (abdominal pain). Inflammation is asymmetrical and can move when the joints are involved.

Last but not least

FMF is not a "autoimmune" disease in which the immune system targets normal tissue as if it were a foreign material, such as rheumatoid arthritis, in which the immune system assaults and damages joint tissue. FMF does not affect the immune system in any way. FMF patients' ability to fight infection is unaffected.
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