Colitis in chronic granulomatous disease

Abstract

Background-Involvement of the gut in chronic granulomatous disease (CGD) has been previously described and colitis highlighted. However, the nature and histopathology of the colitis are unclear and have been thought to be non-specific or similar to Crohn's disease. Methods-Seven patients with CGD, suffering from gastrointestinal symptoms were prospectively studied. Results-All patients had anaemia; other symptoms were failure to thrive (5/7) and diarrhoea (5/7). Most had microcytic anaemia (5/7), increased platelets (7/7), and increased erythrocyte sedimentation rate (6/6). Endoscopically there was a friable erythematous mucosa in 6/7. The histological features present in all patients consisted of a colitis with paucity of neutrophils, increased numbers of eosinophils, eosinophilic crypt abscesses, pigmented macrophages, and nuclear debris. In some granulomas were present (2/7). Conclusions-Colitis is a common cause of gastrointestinal symptoms in CGD and is caused by a non-infective inflammatory process. The histology has specific features, which are distinctive from those seen in Crohn's disease.

Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease

“…An extensive accumulation by pigmented macrophage is documented in only one case in the literature [4]. In CGD, pigmented histiocytes are often observed in other tissues, such as obstructive lesions of the gastrointestinal tract (57%) and reticuloendothelial organs [4,13]. They can also be found in skin lesions [14].…”

Variants in Nicotinamide Adenine Dinucleotide Phosphate Oxidase Complex Components Determine Susceptibility to Very Early Onset Inflammatory Bowel Disease

“…recurrent infections. 1,2 Interestingly, up to 40% of CGD patients develop intestinal inflammation that is very similar to the colitis observed in inflammatory bowel disease (IBD) patients. [3][4][5] Very early onset inflammatory bowel disease (VEOIBD) is defined as disease onset before 6 years of age 6,7 and has increased in incidence dramatically during the past decade.…”

Diversion of the Fecal Stream Resolves Ulcerative Colitis Complicating Chronic Granulomatous Disease in an Adult Patient

“…12,15 Even rarer is the description of these colitides resembling UC, because colitis in CGD is usually described as Crohn-like. [7][8][9][10] The case we describe here (the second reported to date) is unusual, in that it occurred in an adult, and had histologic features resembling those of UC. In fact, the crypt distortion, the diffuse chronic inflammatory infiltrate, and the active inflammation in the form of cryptitis are typical of this condition, whereas the excess of pigmented macrophages in the lamina propria were indicative of CGD.…”

“…5,6 Although this can in particular mimic Crohn disease, 7 the mechanism of inflammation and profile of inflammatory mediators, as well as the histologic features, differ from that in other inflammatory bowel diseases. 8,9 The presence of active chronic inflammation with or without granuloma formation associated with the presence of numerous pigmented macrophages should raise suspicion of the diagnosis. 10 Only 2 cases of CGD in whom colitis had the macroscopic features of ulcerative colitis (UC) have been reported in literature, 1 in a child 11 and 1 in an adult.…”