title: Auto-inflammatory diseases in ileal pouch patients with NOD2/CARD15 mutations.
abstract: 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 IVS8(+158) 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.
authors.affiliation: Division of Gastroenterology/Hepatology, Albany Medical College, Albany, New York, USA.
authors.forename: Darren N
authors.initials: DN
authors.lastname: Seril
authors.affiliation: Departments of Rheumatic and Immunologic Disease, The Cleveland Clinic Foundation, Cleveland, Ohio, USA.
authors.forename: Qingping
authors.initials: Q
authors.lastname: Yao
authors.affiliation: Department of Gastroenterology/Hepatology, The Cleveland Clinic Foundation, Cleveland, Ohio, USA shenb@ccf.org.
authors.forename: Bo
authors.initials: B
authors.lastname: Shen
keywords: auto-inflammation; ileal pouch; pouchitis; restorative proctocolectomy; ulcerative colitis