An infant with severe refractory Crohn's disease and homozygous MEFV mutation who dramatically responded to colchicine.
Özet
Previous studies have suggested that inflammatory bowel disease is particulary frequent and severe in
familial Mediterranean fever (FMF) families. An 8-monthold boy was admitted to our hospital with chronic bloody
diarrhea, failure to thrive and high-grade fever. He was
diagnosed as Crohn’s disease (CD) based on clinical, laboratory and histological findings and, corticosteroid therapy was started. The patient did not respond to intensive
medical therapy including intravenous corticosteroid,
mesalazine, azathioprine, intravenous cyclosporine and
enteral feeding. MEFV gene mutation analysis revealed
homozygous M694V mutation. In addition to azathioprine
and cyclosporine therapy, with the diagnosis of FMF,
colchicine therapy was started and partial remission was
observed within 2 weeks. To the best of our knowledge,
this is the first report of association of CD and FMF in an
infant. In cases of CD resistant to medical therapy, possibility of underlying FMF should be considered, especially
in countries where FMF is prevalent.