TY - JOUR T1 - Interstitial lung disease in lysosomal storage disorders JF - European Respiratory Review JO - EUROPEAN RESPIRATORY REVIEW DO - 10.1183/16000617.0363-2020 VL - 30 IS - 160 SP - 200363 AU - Raphaël Borie AU - Bruno Crestani AU - Alice Guyard AU - Olivier Lidove Y1 - 2021/06/30 UR - http://err.ersjournals.com/content/30/160/200363.abstract N2 - Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosomal enzymes. Three LSDs are associated with lung involvement and/or interstitial lung disease (ILD): Gaucher disease (GD); Niemann–Pick disease, also known as acid sphingomyelinase deficiency (ASMD); and Fabry disease (FD). In GD and in ASMD, analysis of bronchoalveolar lavage fluid and lung biopsy can be informative, showing foamy cells. In GD, ILD is rare. Enzyme replacement therapy (ERT) has been available since 1991 and has greatly changed the natural history of GD, with pulmonary failure and death reported before the ERT era. In ASMD, ILD is frequent and is usually associated with spleen enlargement, low platelet cell count and low level of high-density lipoprotein-cholesterol. Results of ERT are promising regarding preliminary results of olipudase alfa in paediatric and adult ASMD populations. The most frequent respiratory manifestation in FD is COPD-like symptoms regardless of smoking habit and dyspnoea due to congestive heart failure. Early diagnosis of these three LSDs is crucial to prevent irreversible organ damage. Early initiation of ERT can, at least in part, prevent organ failure.Interstitial lung disease is frequent in ASMD and enzyme replacement therapy has shown promising results. https://bit.ly/2XoPR4e ER -