Colitis complicating chronic granulomatous disease. A clinicopathological case report.

Abstract

Background-This report concerns a female patient now aged 24 years, diagnosed at the age of 7 years as suffering from chronic granulomatous disease. At age 20 she developed diarrhoea accompanied by rectal bleeding. Endoscopy showed extensive colitis. She failed to respond to medical treatment and underwent total colectomy two years later. Aims-To discuss the histological changes in the colon in chronic granulomatous disease.Results-There was extensive mucosal inflammation throughout colon and rectum resembling ulcerative colitis. In addition characteristic large pigmented macrophages were distributed in the basal mucosa and superficial submucosa. Similar cells accompanied by granulomata were present in mesenteric lymph nodes. Conclusions-Colitis is an unusual clinical manifestation of chronic granulomatous disease but the presence and characteristic distribution of such pigmented macrophages in colonic biopsy in children and young adults may suggest the diagnosis.

Complications of Tumor Necrosis Factor–α Blockade in Chronic Granulomatous Disease–Related Colitis

“…Colitis is a major manifestation and complication of CGD, with at least 50% of patients developing symptomatic bowel disease, including anal fissures, perirectal abscesses, fistulae, bowel obstruction, cramping, and diarrhea [5,[30][31][32][33]. The consequences of this include iron deficiency, growth retardation, fatigue, and discomfort.…”

Colitis in chronic granulomatous disease

“…Occasionally colitis has been reported 2-4. It has been suggested that the colitis may be an unusual association,4 5 or that it might be caused by infection,3 6 or that it is a manifestation of CGD 5-7. In a recent literature review of gastrointestinal (GI) manifestations in CGD, it was estimated that 50% of patients had intestinal obstruction or anal fissure and diarrhoea.…”

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.…”

“…It is worth noting that similar rare cases needed total colectomy. 11,12 The patient continues to date, after more than 5 years, to have a good quality of life concerning his colitis, maintained in remission through twice-a-week mesalazine enemas and decontamination through distal ileostomy. Thus, we feel that by averting the continuous flow of pathogens within the colon, this may have had the opportunity to heal and to maintain the healing process.…”

“…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. 12 Both underwent colectomy for the severity of colitis, and pigmented macrophages were found in the colon.…”