Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens
2012
Abstract
We analyzed a series of 16 liver biopsies of lysosomal acid lipase (LAL) deficiency of the cholesterol ester storage disease (CESD) type confirmed by enzyme testing and DNA sequencing to identify reliable criteria to improve the differential diagnosis between lysosomal accumulation of neutral lipids and non-lysosomal steatosis. The pathological diagnosis of CESD can be rapidly and effectively appreciated at the light microscopy level, even in routine fixed paraffin-embedded liver samples with immmunohistochemical staining for lysosomal markers.