Effect of an awareness campaign on the diagnosis and clinical impact of primary immunodeficiency

Abstract

Background and objectives: Predominantly antibody deficiencies are the most prevalent primary immunodeficiency (PID) in adults. These are rare diseases difficult to diagnose. Therefore, they are diagnosed late. This study aims to evaluate whether an awareness campaign of PIDs among physicians is associated with an increase in number of diagnoses, a reduction in diagnostic delay and diagnosis at earlier stages.

Patients and methods: A single centre, interventional, quasi-experimental study was designed that included 2 periods, period 1 pre-intervention (1986-2008) and period 2 post-intervention (2009-2018). A descriptive comparative study of variables was carried out in both periods.

Results: 116 patients were included [27 (23.3%) in period 1 and 89 (76.7%) in period 2]. The incidence rate increased significantly (0.204 and 1.236/100,000habs./year; P < 0.05), the diagnosis delay tended to be lower (4 vs. 3.73 years). The reasons for diagnostic suspicion were diverse and the burden disease at diagnosis (expressed by bronchiectasis, altered spirometry, ability to generate antibodies by thymus-independent mechanism and need for substitute treatment) tended to decrease in period 2.

Conclusions: Given the potentially serious complications of patients with late diagnosis of PIDs, it is necessary to create specialized multidisciplinary units, to unify assistance protocols and to design interventions to increase the knowledge of these entities.

Keywords: Antibodies; Anticuerpos; Immunodeficiency; Immunoglobulin; Inmunodeficiencia; Inmunoglobulina.