Gastrointestinal Manifestations of Chronic Granulomatous Disease

Four of nine patients with chronic granulomatous disease had gastrointestinal symptoms; in three of these perianal fistulas developed, and two had friable rectal mucosa. All four had vitamin B12 malabsorption, and two had steatorrhea. In addition two asymptomatic patients had malabsorption of vitamin B12. In eight of the nine cases characteristic histiocytes were found in rectal biopsies; the appearance of these histiocytes is suggestive of chronic granulomatous disease but not invariably diagnostic. Histiocytes with the same appearance were noted in seven of the eight patients undergoing small-bowel biopsy. Histiocytes are rarely seen by light microscopy in the jejunal mucosa of normal persons. Thus, their presence in jejunal biopsies strongly suggests the disease. Our findings indicate that gastrointestinal involvement in chronic granulomatous disease may be frequent.