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Chronic granulomatous disease in adults
J G Liese1, V Jendrossek, A Jansson
1Universitäts-Kinderklinik München, Germany.
Insights
Late diagnosis of Chronic Granulomatous Disease (CGD) is possible in adults, presenting with infections and granulomas. Early exclusion of CGD is crucial for timely treatment and management.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Chronic Granulomatous Disease (CGD) is an inherited immune disorder affecting granulocyte function.
- Typically presents in early childhood with severe recurrent infections.
Purpose of the Study:
- To investigate clinical and laboratory features of CGD patients with unusually late diagnoses.
- To assess the prevalence and characteristics of adult-onset CGD.
Main Methods:
- Retrospective review of 11 CGD patients diagnosed between 13-43 years of age from two children's hospitals.
- Examination of clinical manifestations, infection history, and genetic subtypes.
Main Results:
- Median age at first symptom was 3.6 years, but diagnosis was delayed until a median of 22 years.
- Common infections included Staphylococcus aureus and Aspergillus; 7 patients developed granulomas.
- Lower frequency of severe infections noted compared to classic CGD, potentially due to residual reactive oxygen metabolite production in 9 patients.
Conclusions:
- Adult-onset CGD may be more prevalent than previously thought.
- CGD should be considered in adults with unexplained infections or granulomas for timely intervention.
- Genetic counseling is important for affected families.
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.