Gaucher Disease

Published on 21/04/2017 by admin

Filed under Pathology

Last modified 21/04/2017

Print this page

rate 1 star rate 2 star rate 3 star rate 4 star rate 5 star
Your rating: none, Average: 0 (0 votes)

This article have been viewed 81 times

 Results in hepatosplenomegaly and pancytopenia

• Variable disease progression
• Enzyme replacement therapy represents mainstay therapy

image Early diagnosis is crucial to improving outcome

Microscopic

• 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
image 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

image Enlarged Kupffer cells but foamy cytoplasm with small round vacuoles
• Wolman disease

image 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
image
Kupffer Cell Clusters in Hepatic Lobule
Clusters of enlarged foamy Kupffer cells image with fibrillary, amphophilic cytoplasm are seen in the hepatic lobules. The clusters vary in size and shape.

image
Gaucher Cells With Linear Cytoplasmic Striations
These Gaucher cells demonstrate the characteristic fibrillary or striated cytoplasm reminiscent of wrinkled tissue paper image .
image
Gaucher Cells Compared to Hepatocytes
In Gaucher disease, the characteristic Kupffer cell glucocerebroside inclusions exhibit a fibrillary or striated appearance image. These cells have small, eccentric, and often wrinkled nuclei. In contrast, hepatocytes have more eosinophilic, granular cytoplasm and rounded nuclei image .
image
Electron Micrograph of Gaucher Cell
Electron microscopy of a Gaucher cell demonstrates lysosomes containing numerous elongated tubular structures image 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

image Acid β-glucosidase (glucocerebrosidase) enzyme deficiency
Buy Membership for Pathology Category to continue reading. Learn more here