• Accumulation of glucocerebroside in Kupffer cells and portal tract macrophages results in uniquely linear amphophilic cytoplasm
• Affected cells show characteristic linear, tissue paper-like, fibrillary, or corrugated amphophilic cytoplasm
Cells are positive for PAS-D
• Hepatocytes and other hepatic structures are spared
Ancillary Tests
• Electron microscopy demonstrates intralysosomal compact long tubular structures
Top Differential Diagnoses
• Niemann-Pick disease
Enlarged Kupffer cells but foamy cytoplasm with small round vacuoles
• Wolman disease
Frozen section-stained slide stained with oil red O reveals abundant lipid, and polarized light highlights needle-shaped cholesterol crystals
• Pseudo-Gaucher cells in bone marrow biopsy
Kupffer Cell Clusters in Hepatic Lobule Clusters of enlarged foamy Kupffer cells with fibrillary, amphophilic cytoplasm are seen in the hepatic lobules. The clusters vary in size and shape.
Gaucher Cells With Linear Cytoplasmic Striations These Gaucher cells demonstrate the characteristic fibrillary or striated cytoplasm reminiscent of wrinkled tissue paper .
Gaucher Cells Compared to Hepatocytes In Gaucher disease, the characteristic Kupffer cell glucocerebroside inclusions exhibit a fibrillary or striated appearance . These cells have small, eccentric, and often wrinkled nuclei. In contrast, hepatocytes have more eosinophilic, granular cytoplasm and rounded nuclei .
Electron Micrograph of Gaucher Cell Electron microscopy of a Gaucher cell demonstrates lysosomes containing numerous elongated tubular structures that are arranged in compact bundles. (Courtesy Z. Laszik, MD, PhD.)
TERMINOLOGY
Synonyms
• Glucocerebrosidase deficiency
Definitions
• Inherited deficiency of lysosomal enzyme glucocerebrosidase
ETIOLOGY/PATHOGENESIS
Inborn Error of Metabolism
• Most common lysosomal glycolipid storage disorder
with fibrillary, amphophilic cytoplasm are seen in the hepatic lobules. The clusters vary in size and shape.
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. These cells have small, eccentric, and often wrinkled nuclei. In contrast, hepatocytes have more eosinophilic, granular cytoplasm and rounded nuclei 
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that are arranged in compact bundles. (Courtesy Z. Laszik, MD, PhD.)
