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. 2013 Sep;37(9):1365-72.
doi: 10.1097/PAS.0b013e318297427d.

Gastrointestinal histopathology in chronic granulomatous disease: a study of 87 patients

Meghna Alimchandani  1 , Jin-Ping Lai, Phyu Phyu Aung, Sajneet Khangura, Natasha Kamal, John I Gallin, Steven M Holland, Harry L Malech, Theo Heller, Markku Miettinen, Martha M Quezado
Affiliations

Gastrointestinal histopathology in chronic granulomatous disease: a study of 87 patients

Meghna Alimchandani et al. Am J Surg Pathol. 2013 Sep.

Abstract

Gastrointestinal (GI) involvement in chronic granulomatous disease (CGD), a rare genetic immunodeficiency, mimics other inflammatory bowel diseases. We report GI pathology from 87 CGD patients seen at the NIH Clinical Center, with vague to severe clinical symptoms, in whom biopsies (313) had been evaluated (esophagus [23], stomach [71], small bowel [52] including duodenum [39], ileum [12], and jejunum [1], and colon [167]). Additionally reviewed was GI tissue from 15 autopsies. In our patient cohort, the mean age was 22 years (age range, 3 to 44 y; 2:1 male to female ratio). There were pathologic changes in 83/87 (95%) patients; with colon being the most commonly involved site and esophagus the least. There were microgranulomas in 53/87 (61%), pigmented macrophages in 64/87 (74%), tissue eosinophilia in 31/87 (36%), and chronic and/or acute inflammation in 57/87 (66%) patients. A subset of patients had villous shortening in the duodenum (8/39) and ileum (5/12). We identify microgranulomas in 76/167 (46%) colon, 12/52 (23%) small bowel, and 4/71 (6%) gastric biopsies; pigmented macrophages in 109/167 (65%) colon and 7/52 (13%) small bowel biopsies and 14/15 autopsies; chronic and/or acute inflammation in 97/167 (58%) colon, 13/52 (25%) small bowel, 42/71 (59%) gastric, and 5/23 (22%) esophageal biopsies; tissue eosinophilia in 43/167 (26%) colon, 7/52 (13%) small bowel, and 2/71 (3%) gastric biopsies. Only 4/87 (5%) patients had normal histology. No infectious etiology was identified in the majority of inflammatory lesions. We found that mild to severe GI pathology was common in CGD. In addition, microgranulomas, pigmented macrophages, and eosinophilia are not associated with acute (neutrophilic) inflammation.

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Conflict of interest statement

Conflicts of Interest and Source of Funding: Authors have nothing to declare.

Figures

Figure 1
Figure 1
Acute (A, x200) and/or chronic colitis (B, x100) was present in 58% (97/167) of colon. A: Acute colitis with gland destruction and crypt abcesses. B: Chronic colitis with expanded lamina propria by lymphoplasmacytic infiltrates and mild architectural distortion. Tissue eosinophilia was present in 26% of colon (C, x400). Villous shortening was seen in 30% of duodenum (D, x200).
Figure 2
Figure 2
A–D, Granuloma formation was present in 46% (76/167) of colon involving mucosa and submucosa without (A and B, x200) or with (C and D, x200) surrounding lymphoid cuff and Langhan or foreign body-like giant cells.
Figure 3
Figure 3
A–B, Pigmented macrophages were present in 65% (109/167) of colon (A, x200), and 13% (7/52) of duodenum (B, x200).
Figure 4
Figure 4
Spectrum of GI histopathologic findings in cohort of 87 CGD patients
See this image and copyright information in PMC

References

    1. Rieber N, Hector A, Kuijpers T, Roos D, Hartl D. Current concepts of hyperinflammation in chronic granulomatous disease. Clin Dev Immunol. 2012;2012:252460. Epub 2011 Jul 25. - PMC - PubMed
    1. van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, Español T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234. Epub 2009 Apr 21. - PMC - PubMed
    1. Winkelstein JA, Marino MC, Johnston RB, Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 2000 May;79(3):155–69. - PubMed
    1. Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O’Brien S, Hilligoss DM, Malech HL, Gallin JI, Holland SM. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004 Aug;114(2):462–8. - PubMed
    1. Huang A, Abbasakoor F, Vaizey CJ. Gastrointestinal manifestations of chronic granulomatous disease. T Colorectal Dis. 2006 Oct;8(8):637–44. - PubMed