PT  - JOURNAL ARTICLE
AU  - Raphaël Borie
AU  - Bruno Crestani
AU  - Alice Guyard
AU  - Olivier Lidove
TI  - Interstitial lung disease in lysosomal storage disorders
AID  - 10.1183/16000617.0363-2020
DP  - 2021 Jun 30
TA  - European Respiratory Review
PG  - 200363
VI  - 30
IP  - 160
4099  - http://err.ersjournals.com/content/30/160/200363.short
4100  - http://err.ersjournals.com/content/30/160/200363.full
SO  - EUROPEAN RESPIRATORY REVIEW2021 Jun 30; 30
AB  - 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