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

Area of Science:

• Immunology
• Patient-reported outcomes

Background:

• Inborn errors of immunity (IEI) lead to lifelong health issues, including severe infections and physical impairments.
• Patient perception of health is a key predictor of health outcomes in chronic conditions.

Purpose of the Study:

• To identify factors influencing patient-reported health status (RHS) in individuals with IEI.
• To understand the relationship between diagnostic timelines and health outcomes in IEI patients.

Main Methods:

• Analysis of data from the 2017 Immunodeficiency Foundation (IDF) National Patient Survey.
• Statistical analysis of factors including age at diagnosis, time from symptom onset to diagnosis, and number of physicians consulted.
• Utilized t-tests, ANOVA, and Tukey-Kramer post-hoc tests to determine significance.

Main Results:

• Diagnoses before age 12 and within 10 years of symptom onset correlated with significantly better RHS (p < 0.0001).
• Early diagnosis (within the first 5 years of life) showed improved RHS compared to later diagnoses (p < 0.0001).
• Consulting four or more physicians before diagnosis negatively impacted RHS (p < 0.0001).

Conclusions:

• Efficient, rapid, and early diagnosis is crucial for improving patient-reported health and outcomes in IEI.
• The specialty of the diagnosing clinician did not appear to affect the observed improvements in RHS.
• Findings highlight the importance of timely diagnosis for managing IEI and improving quality of life.