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Pulmonary Manifestations of Lysosomal Storage Disorders in Adults
Siddhartha Narayanan1, Kristen Catherman1, Nathan Pajor2
1Division of Pulmonary Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.
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.
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