A Granulomatous Chronic Disease To the Editor: A 27-year-old man presented with a 3-week history of fever, night sweats, and right upper quadrant pain. He had a childhood diagnosis of Crohn’s disease requiring resection of the rectosigmoid colon, with colostomy formation when he was 13 years old. Histology revealed deep fissuring of the mucosa with extension into the muscularis propria, multiple granulomata, increased inflammatory cells including eosinophils within the lamina propria, and some irregularity of the mucosa with distortion of glands. He described recurrent axillary and skin abscesses for several years. Two years before presentation, he was admitted with septic shock, and a large intrahepatic abscess was identified on computed tomography (CT). Ultrasound guided drainage of this cultured Staphylococcus aureus and he was treated with 1 month of intravenous and 8 weeks of oral flucloxacillin. At 2 months, there was a small residual collection visible on CT. On examination, his abdomen was tender in the right upper quadrant and he was febrile at 39.0 C. Liver enzymes were moderately elevated, showing an obstructive picture. C-reactive protein was elevated at 286 mg/L (normal 0-5), white cell count 12.1  109/L, neutrophil count 9.80  109/L, lymphocyte count 1.34  109/L, and platelets 418  109/L. Blood cultures were negative, and human immunodeficiency virus serology was negative. An abdominal CT scan demonstrated a recurrent low attenuation mass in the posterior right lobe of the liver, measuring 10 cm in diameter with mixed solid and fluid components (Figure 1). Pus was aspirated under ultrasound guidance, again growing Staphylococcus aureus. It was noted during this procedure that the aspiration was difficult due to the organized nature of the collection. In view of the childhood colitis, the history of skin abscesses, and in particular, the recurring and organized nature of the staphylococcal liver abscess, we suspected an immunodeficiency. A neutrophil function test was therefore arranged, which demonstrated impaired production Funding: None. Conflict of interest: None. Authorship: All authors participated in writing the manuscript. Requests for reprints should be addressed to Alexander J. Stockdale, MBChB, Regional Infectious Diseases Unit, Western General Hospital, Edinburgh, UK. E-mail address: [email protected] 0002-9343/$ -see front matter Ó 2014 Elsevier Inc. All rights reserved.

of neutrophil superoxide, consistent with chronic granulomatous disease (Figure 2). Our patient initially received intravenous flucloxacillin and piperacillin/tazobactam with oral rifampicin and fluconazole. After confirmation of the diagnosis, he was switched to intravenous teicoplanin with oral co-trimoxazole, rifampicin, and fluconazole. He also was started on high-dose oral prednisolone, as patients with chronic granulomatous disease and liver abscess may benefit from corticosteroid therapy.1 Successive ultrasound scans demonstrated reduction of the collection and his symptoms resolved.

DISCUSSION Chronic granulomatous disease is a rare inherited primary immunodeficiency, first described in the 1950s, in which defective phagocyte killing renders patients susceptible to severe, recurrent life-threatening bacterial and fungal infections.2 Defects in components of nicotinamide adenine dinucleotide phosphate-oxidase leave phagocytes unable to generate reactive oxygen radicals necessary to eliminate ingested organisms, resulting in granuloma formation. The chronic inflammation that accompanies these granulomas gives rise to the clinical picture of colitis that can mimic Crohn’s disease.3 Chronic granulomatous disease typically presents between infancy and adolescence, with a median age of diagnosis of 3 years. Clinical features typically include

Figure 1 Computed tomography of abdomen demonstrating the liver abscess in the right lobe.


The American Journal of Medicine, Vol 127, No 5, May 2014

Figure 2 Dihydrorhodamine test: Flow cytometry detects the oxidation of dihydrorhodamine to rhodamine 123 following neutrophil activation with phorbol myristate acetate (Normal control: Panels A and B). In a patient with X-linked chronic granulomatous disease, there is no detectable oxidative burst (panels C and D).

childhood growth restriction, recurrent pneumonias, lymphadenitis, liver abscesses, osteomyelitis, and skin and soft tissue infection.2 Diagnosis is by direct measurement of neutrophil superoxide production via the nicotinamide adenine dinucleotide phosphate oxidase complex, ordinarily by the dihydrorhodamine test.4 The mainstay of management is prophylaxis of infection with antibacterials, antifungals, and interferon gamma. Stem cell transplantation is curative, but associated with significant mortality.5 Inherited immunodeficiency can present in adulthood and may elude diagnosis for many years. Chronic granulomatous disease should be considered in any patient who presents with granulomatous colitis and recurrent bacterial and fungal infections. Because inflammatory bowel disease in chronic granulomatous disease reproduces the clinicopathological features of Crohn’s disease,3 our patient may not be the only patient with chronic granulomatous disease who is carrying a diagnosis of Crohn’s disease. Alexander J. Stockdale, MBChBa Claire L. Mackintosh, BSc(hon), MBChB, PhDa Katherine E. Roberston, BSc Hons, MBChB, PhDb

Kristjan O. Helgason, Cand Med et Chirc a

Regional Infectious Diseases Unit Western General Hospital Edinburgh, UK b Department of Pathology Royal Infirmary of Edinburgh Edinburgh, UK c Department of Microbiology Royal Infirmary of Edinburgh Edinburgh, UK

References 1. Leiding JW, Freeman AF, Marciano BE, et al. Corticosteroid therapy for liver abscess in chronic granulomatous disease. Clin Infect Dis. 2012;54(5):694-700. 2. Jones LB, McGrogan P, Flood TJ, et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin Exp Immunol. 2008;152(2):211-218. 3. Marks DJ, Miyagi K, Rahman FZ, et al. Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn’s disease. Am J Gastroenterol. 2009;104(1):117-124. 4. Segal BH, Romani L, Puccetti P. Chronic granulomatous disease. Cell Mol Life Sci. 2009;66(4):553-558. 5. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3-10.

A granulomatous chronic disease.

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