Characterizing hypertension in activated PI3K delta syndrome: Findings from Epic Cosmos

APDS is a rare inborn error of immunity with comorbidity patterns that have yet to be characterized at a large scale. Using Epic Cosmos, a de-identified electronic health record database, we conducted a retrospective, cross-sectional analysis of 866 patients identified by structured diagnosis codes (ICD-10: D84.81; SNOMED: 793412000). Findings revealed that hypertension was coded as affecting 28.5% of the cohort, with age-stratified analyses demonstrating higher prevalence among younger APDS patients compared with age-matched non-APDS peers. Among patients aged ≤50 years, hypertension prevalence was 24.05% in the APDS group compared with 10.89% in the age-matched non-APDS population (prevalence ratio 2.21, 95% CI, 1.90-2.57, P < 0.0001). This association remained prominent in a more specific APDS sensitivity cohort in which the base population required an APDS diagnosis, alongside an allergy and immunology encounter. The findings of this paper provide large-scale characterization of APDS and identify hypertension, particularly among younger APDS patients, as a potentially underrecognized comorbidity that warrants further investigation.