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. 2016 Mar;14(3):395-402.e5.
doi: 10.1016/j.cgh.2015.10.030. Epub 2015 Nov 9.

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy

Sajneet K Khangura  1 , Natasha Kamal  2 , Nancy Ho  2 , Martha Quezado  2 , Xiongce Zhao  2 , Beatriz Marciano  2 , Jennifer Simpson  2 , Christa Zerbe  2 , Gulbu Uzel  2 , Michael D Yao  2 , Suk See DeRavin  2 , Colleen Hadigan  2 , Douglas B Kuhns  3 , John I Gallin  2 , Harry L Malech  2 , Steven M Holland  2 , Theo Heller  4
Affiliations

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy

Sajneet K Khangura et al. Clin Gastroenterol Hepatol. 2016 Mar.

Abstract

Background & aims: Chronic granulomatous disease (CGD) is an inherited disorder of the reduced nicotinamide adenine dinucleotide phosphate oxidase complex within phagocytic cells that predisposes people to bacterial and fungal infections. Approximately 40% of patients with CGD have gastrointestinal involvement. We aimed to characterize the endoscopic features of gastrointestinal CGD and define the role of endoscopy in patients.

Methods: We created a database of all patients with CGD seen at the National Institutes of Health from 1990 through 2010. We identified patients who had an endoscopy, and collected information from those with CGD-associated inflammatory bowel disease. We analyzed clinical data (demographic information and symptoms), endoscopic data (indication, preparation quality, degree of inflammation, mucosal findings, and complications), and pathologic data.

Results: A total of 211 endoscopies (96 esophagogastroduodenoscopies, 82 colonoscopies, and 33 flexible sigmoidoscopies) were performed at the National Institutes of Health on 78 patients with CGD. Esophageal, gastric, and duodenal inflammation were detected in 21%, 74%, and 37% of patients, respectively. Esophageal dysmotility and structural abnormalities were noted in 26%. Of the patients who had colonic CGD-inflammatory bowel disease, 74% had skip lesions and 93% had anorectal disease. Enteric fistulae were found in 18% of patients; 73% of these were perianal. Colonic strictures were observed in 24% of patients; 80% were in the anorectal area.

Conclusions: Based on an analysis of clinical and endoscopic data from 78 patients, CGD-inflammatory bowel disease is a distinct entity, primarily involving the anus and rectum, with skip lesions in the remaining bowel. Bowel strictures and fistulae are present in a significant number of patients. Upper gastrointestinal tract inflammatory disease is common, although typically not as severe as colonic disease. Upper and lower endoscopies are important in characterizing the gastrointestinal features of CGD.

Keywords: Database Analysis; Disease Phenotype; GI; Intestine.

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Conflict of interest statement

Conflicts of Interest: No authors have conflicts to declare

Figures

Figure 1
Figure 1
Acute colitis
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Figure 2
Pattern of colitis distribution
Figure 3
Figure 3
Figure 3A: Anal Ulcers Figure 3B: Gluteal cleft fissure Figure 3C: Ano-rectum with ulcers on retroflexion Figure 3D: Rectal ulcer extending in to anal canal
See this image and copyright information in PMC

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