CROHN'S DISEASE WITH PROMINENT FEVER, HOMOZYGOUS R202Q MEFV VARIANT AND GOOD RESPONSE TO COLCHICINE: A CASE REPORT AND REVIEW OF LITERATURE

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G. A. R. P. M. T. L. P. Maria Grazia Sabbadini, “CROHN’S DISEASE WITH PROMINENT FEVER, HOMOZYGOUS R202Q MEFV VARIANT AND GOOD RESPONSE TO COLCHICINE: A CASE REPORT AND REVIEW OF LITERATURE”, ijmhs, vol. 3, no. 1, Oct. 2013.
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Abstract

We describe the case of a young woman with high intermittent fever as the prominent manifestation of an underlying Crohn's disease. Genetic investigations revealed the presence of R202Q variant of the Familial Mediterranean Fever gene (MEFV), which plays a key role in regulating the inflammasome biology and in the control of systemic inflammation. The patient had a good clinical response after administration of colchicine, a known regulator of the inflammasome, suggesting a direct involvement of R202Q as a disease modifier in Crohn's disease and a possible role for colchicine in the control of Crohn-related systemic inflammation.

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