Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity

Patients with inborn errors of immunity (IEI) have lifelong health complications including severe infections and physical impairments. Previous studies show that a patient's perception of their health is an important predictor of health outcomes. The purpose of this study was to understand factors related to patient reported health status.

We used data from the Immunodeficiency Foundation (IDF) 2017 National Patient Survey and analyzed factors which correlated with the reported health status (RHS). Among a cohort of 1139 self-reported IEI patients, we identified age at the time of diagnosis, time gap between symptom onset and diagnosis, number of physicians seen, and whether the diagnosis was made in the first 5 years of life as significant. We used a two-tailed t-test, single-factor ANOVA, and Tukey-Kramer post-hoc test to assess statistical significance in the observed difference.

Patients who received a diagnosis before the age of 12 had a significantly better mean RHS (n = 207 pre-12a vs. n = 900 post-12a; p < 0.0001). Patients who received a diagnosis within 10 years of symptom onset showed improved mean RHS (n = 413 pre-10 vs. n = 524 post-10; p < 0.0001). Among patients who had symptom onset within the first 5 years of life, those who received a diagnosis had a significantly improved RHS (3.5 ± 0.92, n = 275 undiagnosed vs. 2.8 ± 0.94, n = 108 diagnosed; p < 0.0001). Finally, RHS was significantly impacted by number of physicians(n ≥ 4) seen prior to diagnosis (3.1 ± 0.96 vs. 3.4 ± 0.80, p < 0.0001).

These findings shed light upon critical factors which impact IEI patient RHS. Specifically, we find that efficient, rapid and early-life IEI identification should improve patient reported health and relevant outcomes. These improvements appear to be independent of the clinician specialty ultimately making the IEI diagnosis.