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

TL;DR

This study shows that the forced oscillation technique (FOT) can effectively assess lung function in patients with lysosomal storage diseases, who often struggle with traditional spirometry.

Contribution

The study demonstrates the feasibility and efficacy of FOT as an alternative pulmonary function test for patients with lysosomal storage diseases.

Findings

FOT was successfully used in 47% of patients with lysosomal storage diseases.

Abnormal FOT outcomes were observed in 10 out of 16 patients assessed.

FOT results correlated with spirometry findings in these patients.

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.

The online version contains supplementary material available at 10.1038/s41598-025-92076-8.