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Familial Mediterranean fever
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Familial Mediterranean fever is an inherited autoinflammatory disorder, that is, a disease in which inflammation switches itself on with no infection to justify it. It comes in recurrent episodes of fever and inflammation of the serous membranes, the smooth linings on the inside of the abdomen, the chest, and the joints.
The fault lies in a gene called MEFV, which makes a protein called pyrin. Pyrin is part of an inflammasome, the switch a defense cell uses to decide whether to turn inflammation on. MEFV mutations lower the threshold of that switch, so it trips far too easily, and through an enzyme called caspase-1 the cell makes too much interleukin-1 beta, a cytokine, that is, one of the molecules defense cells use to talk to one another. The alarm is not broken: it is far too sensitive and goes off on its own.
That is why the attacks have a recognizable shape. The first one usually appears in childhood, sets in over two to four hours, and lasts between six hours and four days.
In brief
Familial Mediterranean fever is an inherited autoinflammatory disorder with recurrent episodes of fever and inflammation of the serous membranes of the abdomen, chest, and joints.
The gene responsible is MEFV, which encodes pyrin; its mutations lower the threshold of the pyrin inflammasome and lead to excess caspase-1-mediated interleukin-1 beta production.
The alarm is not broken: it is far too sensitive and goes off on its own.
The first attack usually comes in childhood, sets in over two to four hours, and lasts from six hours to four days.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingFamilial Mediterranean Fever, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated