Gaucher Disease

 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

Only gold members can continue reading. Log In or Register to continue

Related posts:

  1. Congenital Hepatic Fibrosis
  2. Hepatoportal Sclerosis
  3. Drug-Related Acute Hepatitis
  4. Biliary Atresia

Stay updated, free articles. Join our Telegram channel
Tags:
Apr 20, 2017 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Gaucher Disease

Full access? Get Clinical Tree
Get Clinical Tree app for offline access