Familial Mediterranean fever

Familial Mediterranean fever is an inherited autoinflammatory disease marked by recurrent, self-limited attacks of fever and inflammation, often involving the abdomen, chest, or joints.

Pyrin: Pyrin is an innate immune protein encoded by MEFV that helps regulate inflammatory signaling. Familial Mediterranean fever commonly results from variants that alter pyrin's control of inflammation.
Acute-phase proteins: Acute-phase proteins are blood proteins whose concentrations change during systemic inflammation. Serum amyloid A and C-reactive protein can rise during attacks and remain elevated between them.
Janeway and Mosenthal's description of periodic fever: Janeway and Mosenthal's 1908 report described a child with recurrent febrile attacks and abdominal symptoms. It is an early published account of the syndrome later recognized as familial Mediterranean fever.
Tumor necrosis factor receptor-associated periodic syndrome: Tumor necrosis factor receptor-associated periodic syndrome is an inherited autoinflammatory disease causing prolonged recurrent inflammatory episodes. Its attacks generally last longer than the brief episodes typical of familial Mediterranean fever.
MEFV: MEFV is the gene that encodes pyrin and is associated with familial Mediterranean fever. Pathogenic variants in this gene account for most cases of the disease.
Serum amyloid A: Serum amyloid A is an acute-phase protein that can form amyloid deposits when persistently elevated. Monitoring it can help assess ongoing inflammation and risk of amyloidosis.
Sheppard Siegal: Sheppard Siegal was an American physician who described recurrent febrile episodes in patients of Mediterranean ancestry in 1945. His account helped establish the disease's clinical identity.
Mevalonate kinase deficiency: Mevalonate kinase deficiency is an inherited autoinflammatory disorder that causes recurrent fever and systemic symptoms. It can resemble familial Mediterranean fever but often begins in infancy and has different triggers.
Inflammasome: An inflammasome is a multiprotein complex that activates inflammatory signaling, including production of interleukin-1β. Pyrin can assemble an inflammasome whose activation contributes to attacks.
AA amyloidosis: AA amyloidosis is a disorder in which deposits derived from serum amyloid A accumulate in organs. It is a serious long-term complication of inadequately controlled familial Mediterranean fever.

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