Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Siddhartha Narayanan, Kristen Catherman, Nathan Pajor, Francis X McCormack

Journal: Clinics in chest medicine 2025;46(4):739-753

PMID: 41110933

Full Text on Elsevier Science View on PubMed

Abstract

The lysosomal storage disorders, including acid sphingomyelinase deficiency (ASMD), Gaucher disease (GD), and Fabry disease (FD) are rare causes of pulmonary disease that should be considered when patients present with interstitial lung disease or chronic obstructive lung disease at a young age. Clues of underlying inherited disorders of metabolism include splenomegaly, hepatomegaly, thrombocytopenia for GD and ASMD, crazy paving pattern on chest computed tomography and low high-density lipoprotein cholesterol for ASMD, and obstructive lung disease in FD. Early institution of enzyme replacement therapies in these patients can result in organ preservation and improved outcomes.

Address: Division of Pulmonary Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.; Division of Pulmonary Medicine, Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.; Division of Pulmonary Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA. Electronic address: [email protected].

DOI: 10.1016/j.ccm.2025.07.012

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MeSH Terms: Humans, Lysosomal Storage Diseases, Adult, Lung Diseases, Enzyme Replacement Therapy, Gaucher Disease, Lung Diseases, Interstitial, Fabry Disease