Mutations/Polymorphisms in a monogenic autoinflammatory disease may be susceptibility markers for certain rheumatic diseases: lessons from the bedside for the benchside

CER142
2009 Vol.27, N°2 ,Suppl.53
PI 0029, PF 0031
Full Papers

Free to view
(click on article PDF icon to read the article)

PMID: 19796529 [PubMed]

Received: 13/01/2009
Accepted : 25/03/2009
In Press: 02/12/2009
Published: 02/12/2009

Abstract

Certain vasculitides have an increased prevalence among patients with familial Mediterranean fever (FMF). Subsequently, it was noticed that patients with certain rheumatic diseases had an increased carrier rate for mutations in the MEFV gene including seronegative spondyloarhtropathies, Henoch Schönlein purpura, polyarteritis nodosa and some forms of juvenile idiopathic arthritis. Furthermore in populations where the disease is rare, certain polymorphisms have been associated with a severe inflammatory complication in arthritis. The effect of these polymorphisms are probably through the upregulation of the innate immune system which serves as the initial response to the environmental trigger. It may be suggested for the aforementioned clinical associations that mutations/polymorphisms in the MEFV gene may well be susceptibility factors for the disease or a more severe course of the disease for a number of rheumatic diseases.