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

Aleksandra Jezela-Stanek, Anna Tylki-Szymanska, Joanna Chorostowska-Wynimko

Journal: The clinical respiratory journal 2021;14(5):422-429

PMID: 31912638

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Abstract

Lysosomal 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 recognised 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 treated 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 conclusive, 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 modulates inflammation (as has been suggested in patients with Fabry disease), remain to be explored.

Address: Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

DOI: 10.1111/crj.13150

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MeSH Terms: Adolescent, Adult, Diagnosis, Differential, Enzyme Replacement Therapy, Fabry Disease, Female, Gaucher Disease, Glycogen Storage Disease Type II, Humans, Late Onset Disorders, Lung Diseases, Interstitial, Lysosomal Storage Diseases, Male, Middle Aged, Mucopolysaccharidoses, Niemann-Pick Disease, Type B, Respiratory Insufficiency, Respiratory System, Respiratory Tract Diseases, Tomography, X-Ray Computed, Treatment Outcome, Young Adult