Familial mediterranean fever pathophysiology
Template:Familial Mediterranean fever Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Pathophysiology
- Virtually all cases are due to a mutation in the MEFV gene, which codes for a protein called pyrin or marenostenin.
- The function of pyrin has not been completely elucidated, but it appears to be a suppressor of the activation of caspase 1, the enzyme that stimulates production of interleukin 1β, a cytokine central to the process of inflammation. It is not conclusively known what exactly sets off the attacks, and why overproduction of IL-1 would lead to particular symptoms in particular organs (e.g. joints or the peritoneal cavity).
Genetics
- The MEFV gene is located on the short arm of chromosome 16 (16p13) which consists of 10 exons.
- The majority of mutations occur in exon 10.
- The E148Q, M680I, M694V, M694I, and V726A mutations have been observed to be responsible for more than 80% of FMF cases in the Middle Eastern region.
- The disease inherits in an autosomal recessive mode. However, there is an increasing number of data reporting the autosomal dominant inheritance.
Associated Conditions
Conditions associated with Familial Mediterranean fever include: