Survival in patients with chronic granulomatous disease has improved during the years, but fungal infections remain a major cause of mortality in this population, according to findings published in Clinical Infectious Diseases.
In a retrospective study, researchers reviewed hospital records of 268 patients with chronic granulomatous disease who were followed at the NIH Clinical Center between 1969 and 2012. Records included patient demographics, genotype, superoxide production and causative pathogens. Gene determination was performed in 85% of cases, and electronic medical records were evaluated to identify patients with bacterial or fungal infections. The researchers calculated incidence rates, as well as the prevalence of pathogen-specific infections, for each genotype and by superoxide production quartiles.
The researchers determined incidence rates (per 100 patient-years) for:
- Aspergillus, 2.6 cases
- Burkholderia, 1.06 cases
- Nocardia, 0.81 cases
- Serratia, 0.98 cases
- severe Staphylococcus, 1.44 cases
Lung infections occurred in 87% of patients, and liver abscesses were seen in 32% of cases. The incidence of Aspergillus was 55% in the first and second quartiles of superoxide production and 41% in the higher superoxide production quartiles (rate ratio≤.0001). There was a slightly higher prevalence of Aspergillus and Serratia in patients with lower residual superoxide production.
The researchers also discovered an increase in the median age at mortality from 15.53 years before 1991 to 28.12 years by 2012. Fungal infection, which was associated with a higher mortality risk than bacterial infection, was the most common cause of death (55%). Gastrointestinal complications were independent of a patient’s history of infection and were unrelated to mortality.
According to the researchers, these findings suggested an ongoing need to identify the pathogen responsible in chronic granulomatous disease.
“Although antifungal therapies and more generalized prophylaxis are likely to have contributed to the improvement in survival over the last decade, the probability of getting an invasive infection remains high,” the researchers wrote. “Therefore, determining the causal pathogen is essential to effective management.”
Disclosure: The researchers report no relevant financial disclosures.