Feasibility and efficacy of the forced oscillation technique in patients with lysosomal storage diseases.

Abstract

Lysosomal storage disorders (LSDs) are a diverse group of inborn errors of metabolism, which involves the storage of macromolecules within the lysosome due to the absence of or deficiency in lysosomal enzymes. In this condition, respiratory dysfunction is the common cause of morbidity and mortality. Thus, an objective measurement examination of pulmonary function, such as spirometry, is essential for the diagnosis and management of respiratory conditions. However, spirometry requires active patient involvement. Meanwhile, the forced oscillation technique (FOT) is performed during tidal breathing and is feasible in patients who cannot perform spirometry. Thus, the current study aimed to assess the feasibility and efficacy of FOT in assessing respiratory function among patients with LSD. This study was conducted at the outpatient department of Tawam Hospital, Al-Ain, the United Arab Emirates. Patients with confirmed LSD were included in the analysis. Information on respiratory history was obtained using a standardized respiratory questionnaire, and lung function was assessed using FOT. The main outcomes were respiratory resistance (Rrs5), reactance at 5 Hz (Xrs5), and area under the reactance curve (AX). In total, 35 patients with LSD were assessed. FOT was used to evaluate 16 (47%) patients. Of the patients who were successfully assessed using FOT, 10 presented with abnormal outcomes. Hence, there was an association between lung function assessed using FOT and spirometry results in these patients. FOT can help obtain lung function measurements in patients with LSD. In this study, the patients commonly presented with abnormal FOT outcomes.