Pouchitis is common in ulcerative colitis patients undergoing total proctocolectomy with ileal pouch-anal anastomosis,and chronic antibiotic-refractory pouchitis occurs in a subgroup of the patients.Auto-inflammatory ...Pouchitis is common in ulcerative colitis patients undergoing total proctocolectomy with ileal pouch-anal anastomosis,and chronic antibiotic-refractory pouchitis occurs in a subgroup of the patients.Auto-inflammatory diseases are characterized by systemic inflammation,manifesting as periodic fever,rash,arthritis,and serositis.We describe two cases with ulcerative colitis and an ileal pouch,who presented with extra-intestinal manifestations and genetic features atypical for inflammatory bowel disease alone.Case 1 had a spectrum of clinical manifestations including refractory pouchitis,intermittent fevers,polyarthralgia,and pericarditis.Case 2 presented with oral ulcers,migratory oligoarthritis,and periodic papular rash.Genetic testing in both cases revealed mutations of the NOD2/CARD15 gene,including the IVS8þ158 mutation commonly detected among patients with NOD2-associated auto-inflammatory disease.Both of the patients demonstrated clinical improvement of these diverse systemic complaints following treatment with immunosuppressive and anti-inflammatory therapies.展开更多
基金supported by the Ed and Joey Story Endowed Chair.The manuscript received no direct financial support.
文摘Pouchitis is common in ulcerative colitis patients undergoing total proctocolectomy with ileal pouch-anal anastomosis,and chronic antibiotic-refractory pouchitis occurs in a subgroup of the patients.Auto-inflammatory diseases are characterized by systemic inflammation,manifesting as periodic fever,rash,arthritis,and serositis.We describe two cases with ulcerative colitis and an ileal pouch,who presented with extra-intestinal manifestations and genetic features atypical for inflammatory bowel disease alone.Case 1 had a spectrum of clinical manifestations including refractory pouchitis,intermittent fevers,polyarthralgia,and pericarditis.Case 2 presented with oral ulcers,migratory oligoarthritis,and periodic papular rash.Genetic testing in both cases revealed mutations of the NOD2/CARD15 gene,including the IVS8þ158 mutation commonly detected among patients with NOD2-associated auto-inflammatory disease.Both of the patients demonstrated clinical improvement of these diverse systemic complaints following treatment with immunosuppressive and anti-inflammatory therapies.
