Interstitial lung disease in lysosomal storage disorders

Eur Respir Rev. 2021 Apr 29;30(160):200363. doi: 10.1183/16000617.0363-2020.

PMID: 33927007

Raphaël Borie, Bruno Crestani, Alice Guyard

Highlights: Early diagnosis for lysosomal storage diseases (LSDs) is crucial to prevent irreversible organ damage. Early initiation of enzyme replacement therapy (ERT) can, at least in part, prevent organ failure.

Abstract

Background: The intracellular organelles known as lysosomes are in charge of breaking down and recycling macromolecules. A set of hereditary diseases known as lysosomal storage diseases (LSDs) are brought on by gene mutations that disrupt the genes that encode the activity of the lysosomal enzymes. Three LSDs—Gaucher disease (GD), Niemann-Pick disease, commonly known as acid sphingomyelinase deficiency (ASMD), and Fabry disease (FD) —are connected to lung involvement and/or interstitial lung disease (ILD). Analysis of bronchoalveolar lavage fluid and lung biopsy, which reveals foamy cells, can be instructive in GD and ASMD. ILD in GD is uncommon. Since its introduction in 1991, enzyme replacement therapy (ERT) has significantly altered the course of GD, which previously has been associated with pulmonary failure and death. ILD is a common complication of ASMD and is typically accompanied by spleen enlargement, a low platelet cell count, and low levels of HDL cholesterol. In terms of olipudase alfa's early findings in populations with pediatric and adult ASMD, ERT results are encouraging. No of how often a person smokes, COPD-like symptoms and dyspnea from congestive heart failure are the most common respiratory manifestations in FD.

Conclusion: To avoid irreversible organ damage, it is essential to diagnose these three LSDs as soon as possible. Organ failure can be avoided, at least in part, by starting ERT early.

Keywords: lysosomal storage disease, interstitial lung disease, enzyme replacement therapy, olipudase alfa