Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state ‐of‐the art review

AbstractLysosomal storage disorders (LSDs) are multisystemic, progressive, and clinically very heterogeneous. Respiratory complications are not regarded as the principal problems of LSDs, but significantly impact morbidity. In this review, we focus on pulmonary complications observed in late ‐onset LSDs, their milder forms that are recognized in adulthood. We also discuss the effects of enzyme replacement therapy (ERT) on the respiratory system in patients with particular LSDs. We searched the PubMed database, retrieving research papers on pulmonary complications of LSDs currently tre ated with ERT (the conditions are abbreviated GD3; NPDB; LOPD; MPS I, II, IVA, VI; and FD) and the effects of such treatment. Although some studies indicated that ERT was helpful in terms of reducing chest computed tomography abnormalities, infection frequency, and organomegaly, the data are not con clusive, and the mechanism of action of ERT in the respiratory system remains unclear for some LSDs including late‐onset Pompe disease and Gaucher disease type III. The optimal timing of treatment for pre‐symptomatic or symptomatic patients, treatment duration, and whether such treatment modulat es inflammation (as has been suggested in patients with Fabry disease), remain to be explored.
Source: The Clinical Respiratory Journal - Category: Respiratory Medicine Authors: Tags: REVIEW ARTICLE Source Type: research

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