Case Presentation:

This is a 21–year–old male presenting with a 3–month history of worsening colicky periumbilical abdominal pain. The patient has had fevers, night sweats, diarrhea and hematochezia associated with this pain. He has a known history of autosomal recessive chronic granulomatous disease (CGD) and had severe pulmonary aspergillosis as a child but otherwise has no medical problems. His CGD was well managed throughout childhood but as he got older he became less compliant with his medications and eventually stopped these for financial reasons. With the onset of his abdominal pain 3–months ago he underwent EGD which was normal and sigmoidoscopy which showed granulomatous colitis. Biopsy showed giant cells and accumulation of histiocytes in the lamina propria consistent with gastrointestinal involvement of CGD. He was prescribed Prednisone, Trimethoprim–Sulfamethoxazole, and Itraconazole at that time but did not take these medications for financial reasons. Physical exam showed tachycardia and a diffusely tender abdomen with guarding. Laboratory analysis was notable for microcytic anemia, thrombocytosis, hypoalbuminemia, and elevated ESR and CRP. CT of abdomen showed segmental bowel wall thickening, surrounding inflammation of the transverse colon and ileum and a partial small bowel obstruction. Repeat EGD showed multiple superficial ulcers in the gastric antrum. The patient was admitted to the hospital for active granulomatous colitis and was started on empiric antibiotics and parenteral glucocorticoids. His partial small bowel obstruction was managed conservatively and infectious workup was negative. His symptoms improved and he was discharged on Prednisone, Interferon gamma, Trimethoprim–Sulfamethoxazole, and Itraconazole with medication assistance.

Discussion:

Gastrointestinal involvement in chronic granulomatous disease is a rare condition that can cause significant morbidity and mortality. Intestinal motility dysfunction, obstruction, ulceration, and infection may occur anywhere along the GI tract and the clinical presentation resembles that of the other inflammatory bowel diseases. Given the immunocompromised host however, acute infections require early aggressive empiric antibiotic and antifungal therapy and aggressive surgical debridement of abscesses. Anti–inflammatory treatment is less well defined but high–dose corticosteroids have been shown to rapidly induced remission in one review. Relapse of GI symptoms is common necessitating a gradual steroid taper. Bone marrow transplant is potentially curative but most patients are treated conservatively with chronic infective prophylaxis and immunomodulation therapy.

Conclusions:

As patients with chronic granulomatous disease now survive well into adulthood, this case is meant to increase awareness among hospitalists of the gastrointestinal manifestations of this rare condition and highlight the importance of swift and appropriate therapy.