Chronic Granulomatous Disease Involving Gastrointestinal Tract (Pathology Study of 87 Cases)
Jin-Ping Lai, Phyu P Aung, Sajneet Khangura, Natasha Kamal, John I Gallin, Steven M Holland, Harry L Malech, Theo Heller, Martha Quezado. NCI, NIH, Bethesda, MD; NIH, Bethesda, MD
Background: Chronic granulomatous disease (CGD) is an uncommon inherited immunodeficiency due to a disorder of phagocyte oxidase metabolism, occurring in about one out of 250,000 individuals. CGD patients develop recurrent and life threatening bacterial and fungal infections. Gastrointestinal (GI) involvement is a common problem for CGD patients who present with abdominal pain, diarrhea, constipation, obstruction and fistula. We evaluated a large number of GI biopsies on symptomatic CGD patients to characterize their morphologic features.
Design: We collected 313 GI biopsies (esophagus 23, stomach 71, duodenum 52, colon 165, and anus 2) from 87 CGD patients with clinical GI involvement. The patients were diagnosed at NIH Clinical Center from 1987 to 2011. All the biopsies were retrospectively evaluated for multiple parameters such as presence of pigmented macrophages (0∼3), granuloma formation (0∼4, poorly or well formed), inflammation (acute vs chronic), architecture distortion, intraepithelial lymphocytosis, ulceration, microscopic eosinophilic abscess and eosinophilia and atypia.
Results: We found that granuloma formation was present in 46% (76/167) of colon involving mucosa and submucosa, 23% (12/52) of duodenum, 6% (4/71) of stomach and 0% (0/23) of esophagus. Pigmented macrophages were present in 65% (109/167) of colon, and 13% (7/52) of duodenum. Inflammation was present in 58% (97/167) of colon with 20% (34/167) with acute cryptitis and/or crypt abscess and 38% (63/167) of chronic active/inactive colitis, 25% (13/52) of duodenum, 62% (44/71) of stomach, and 17% (4/23) of esophagus. Ulceration was found in 10% (17/167) of colon, 13% (7/52) of duodenum, and 5% (4/71) of stomach. Granulomas and abscesses were found in the 2 anal biopsies. Atypia/dysplasia was rarely encountered. Normal histology was found in 5% (4/87) of all selected patients.
Conclusions: Mild to severe pathologic changes of GI tract can be seen in the majority of CGD patients with GI symptoms. Colon is commonly affected. Granulomas, pigmented macrophages and inflammation are the most common pathologic changes.
Monday, March 19, 2012 1:00 PM
Poster Session II # 102, Monday Afternoon