Value of bronchoalveolar lavage in lipidoses with pulmonary involvement

• Published in: The European respiratory journal Vol. 7; no. 2; pp. 409 - 411
• Main Authors: Tabak, L, Yilmazbayhan, D, Kilicaslan, Z, Tascioglu, C, Agan, M
• Format: Journal Article
• Language: English
• Published: Leeds Eur Respiratory Soc 01.02.1994; Maney
• Subjects: Adult; Biological and medical sciences; Bronchoalveolar Lavage Fluid - cytology; Errors of metabolism; Foam Cells - pathology; Gaucher Disease - diagnosis; Humans; Lipids (lysosomal enzyme disorders, storage diseases); Lung Diseases - diagnosis; Lung Diseases - etiology; Male; Medical sciences; Metabolic diseases; Niemann-Pick Diseases - diagnosis; Human; Nervous system diseases; Metabolic diseases; Lipids; Sphingolipidosis; Enzymopathy; Cerebral disorder; Genetic disease; Case study; Bronchoalveolar lavage; Central nervous system disease; Diagnosis; Lipoidosis
• ISSN: 0903-1936; 1399-3003
• DOI: 10.1183/09031936.94.07020409

Adult lipid storage disorders with pulmonary involvement are rare and usually diagnosed at autopsy. We report a patient with splenomegaly and reticulonodular pattern on lung computed tomography. Bronchoalveolar lavage was performed and revealed the presence of lipid-containing foamy cells, with the demonstration of both periodic acid-Schiff (PAS) and scharlach red stain positive vacuoles in the cytoplasm of alveolar macrophages. The same cells were found in bone marrow biopsy. As in other rare disorders, bronchoalveolar lavage may be of diagnostic value in lipid storage disorders with pulmonary involvement.