P-123 Chronic Granulomatous Disease in a Female Presenting with Granulomatous Ileo-Colitis

Abstract

There are numerous mimickers of inflammatory bowel disease (IBD) which can lead to delays in diagnosis as well as inappropriate use of immunosuppressive therapy. We present a case of Chronic Granulomatous Disease (CGD) manifesting with acute ileo- colitis in a young girl. Case Report: 2 year old female born in the US to Ecuadorean parents presented with 6 weeks of rectal bleeding, abdominal pain, frequent stooling, and anorexia. Although there was no recent travel the parents reported that a friend had given her “dog soup” for 5 days before becoming ill. They denied any rashes, joint pains or aphthous stomatitis. Fecal assays revealed a negative stool culture, C. diff, and stool for ova and parasites. Laboratory studies revealed a Hemoglobin = 10.0, ESR = 70, CRP = 3.3, and Albumin of 3.8. The patient underwent an Endoscopy and Colonoscopy which revealed a pan-colitis as well ileitis with non-caseating granulomas in every biopsy. She was given a 6 week course of steroids to which she responded nicely. However, 3 weeks after stopping she developed a recurrence of bleeding. At that time she was started on mesalamine with no further bleeding. The past medical history was remarkable for a right cervical adenitis which was PCR positive for Mycobacterium abscessus, recurrent draining otitis media which was positive for MRSA, pneumonia requiring hospitalization and a history of incomplete Kawasaki's Disease. Extensive immune work up revealed an abnormal neutrophil function assay and genetic testing is pending. CGD is a phagocytic immunodeficiency syndrome, affecting the NADPH oxidase complex which is responsible for generating the respiratory burst. Mutations in the 5 genes (gp91phox, p47phox, p22phox, p67phox, and p40phox) that make up the complex account for all of the known cases of CGD. There is 1 X-linked and 4 autosomal recessive forms of CGD. The X- linked form, primarily seen in males, occurs in 65–70% of all CGD patients. CGD has an incidence between 1/200,000 and 1/250,000 live births. Infections are caused by catalase positive organisms specifically: Staphylococcus Aureus, Aspergillus, Burkholderia Cepacia, Serratia Marcescens Nocardia, Chromobacter Violaceum, Atypical Mycobacteria, Klebsiella and Granulibacter Bethesdensis. The most common infections are pneumonia, skin abscesses, lymphadenitis, liver abscesses and osteomyelitis. Noninfectious complications include gastric outlet obstructions, urinary tract obstruction, autoimmune diseases and colitis/enteritis which has been reported in 43% of X-linked and 11% of AR patients. The X-linked phenotype typically presents earlier with a more severe clinical course. Diagnosing CGD is through ascertaining the respiratory burst via DHR (preferred) or nitroblue tetrazolium (NBT). This is followed by genetic mutational analysis. Treatments strategies for the colitis/enteritis have included steroids, mesalamine, anti-TNF, surgery, and GM-CSF. None of have been consistently successful and immunosuppressive therapies have resulted in fatal opportunistic infections. Although these therapies appear to be beneficial initially overtime they become less effective. Infectious treatments include antibacterial, antifungal prophylaxis and Interferon Gamma. Stem cell transplantation, which resolves the colitis should be considered for patients with minimal respiratory burst and recurrent severe infections despite prophylaxis. It is imperative that CGD be considered in every IBD patient prior to initiating immunosuppression.