Chronic granulomatous disease in adults

Abstract

Summary Background Chronic granulomatous disease (CGD), an inherited disorder of granulocyte function caused by failure of intracellular superoxide production, normally presents in the first years of life with severe recurrent bacterial and fungal infections. Methods From the files of two children's hospitals we identified 11 CGD patients who were remarkable for an unusually late diagnosis, at 13-43 years of age. Their clinical and laboratory features were examined. Findings The first clinical manifestation occurred at a median age of 3·6 years but CGD was not diagnosed until a median age of 22 years. Pneumonias and abscesses caused by Staphylococcus aureus and Aspergillus species were the most frequent infections. Granulomas, often leading to chronic complications, occurred in 7 of the patients. With 1·1 severe infections in 100 patient months, the 11 patients had a lower frequency of severe infections than patients with classic CGD; however, such infections could be equally life-threatening. 8 of the patients had X-linked CGD with small but detectable quantities of cytochrome b558, normally absent in X-linked CGD; and 3 had autosomal-recessive CGD. 9 patients had residual production of reactive oxygen metabolites, a feature that could explain the low incidence of infections. Interpretation CGD in adults may be more common than previously assumed. In view of the possibility of timely treatment, infection prophylaxis, and genetic counselling for affected families, CGD should be excluded in any patient with unexplained infections or granulomas.