Diagnostic latency and pulmonary morbidity in adult patients with primary immunodeficiency (PID): A single center experience

Abstract

Introduction: In PID patients frequent respiratory infections are the predominant clinical manifestation. Since the majority of patients with lung diseases do not exhibit immunodeficiencies, PID is often not considered appropriately. Methods: To analyze pulmonary morbidity and diagnostic delay, we retrospectively evaluated clinicopathological characteristics of 68 adult PID patients (median age 44.8 yrs (range 20 – 82), 57.4% female; 39 CVID, 9 subclass deficiency, 8 other classified and 12 unclassified PID) who presented in our pulmonary division between 2008 and 2014. Diagnostic latency was evaluated by a questionnaire focusing on the number of antibiotic cycles and onset of frequent infections. Results: All PID patients experienced frequent respiratory infections. Bronchiectasis detected by thoracic-CT, granulomatous lung disease, interstitial lung disease, and antitrypsin-1 deficiency type ZZ were present in 33.8%, 13.2%, 5%, and 3%, respectively. Median latency for PID diagnosis was 12.5 yrs (range 0.5 – 56). 80% of patients received ≥20 antibiotic cycles prior PID diagnosis, and 34.3% received more than 100 antibiotic cycles prior diagnosis. 44.1% of the patients reported more than 50 consultations prior diagnosis. Conclusion: In patients with frequent respiratory infections diagnostic delay for PID is very common. Upon diagnosis, one third of patients developed bronchiectasis already. Since early PID detection is feasible and treatment (immunoglobulin substitution) is highly effective, all patients with PID warning signs (e.g., more ≥ 4 antiinfectiva-dependent infections per year) shall be tested at least for immunoglobins and IgG subclasses.