Gaucher’s Disease

Common LSD, characterized by deposition of gluco – cerebroside in cells of macrophage – monocyte system.

Results from mutation in gene or deficiency of enzyme that codes for glucosylceramidase.

Leads to accumulation of glucosylceramide in mononuclear phagocytic cells; transformed into “Gaucher cells“.

Five autosomal recessive variants exist resulting from distinct allelic mutations.

Three have been described in the literature.


  • Normally glycolipids derived from breakdown of senescent blood cells are sequentially degraded.
  • In this condition, degradation stops at level of glucosylceramidases.
  • These transit through blood as macromolecules; engulfed by phagocytic cells of the body.

  • These phagocytes “Gaucher cells” become enlarged due to accumulation of distended lysosomes

Type I – Chronic nonneuronopathic form:-

  • Presents in childhood with hepatosplenomegaly, pancytopenia & skeletal disease.
  • Most common variety, striking predilection for Ashkenazi Jews.
  • Characterized by clinical or radiologic bone involvement.

  • Spleen enlarges massively filling the entire abdomen.

Type II – Infantile/acute neuronopathic form:-

  • Rapidly progressive neurovisceral involvement.

  • Symptoms start before 2 years of age, very severe.

  • Results in death in infancy.

Type III – Juvenile/ Norrbotnian form:-

  • Patients are juvenile presenting with systemic involvement.

  • (intermediate between type I and type II).

  • Progressive CNS involvement usually begins in teens or early twenties.

Histologic Features:-

  • Numerous large, foamy, slightly granular cells with small, round, pyknotic nuclei – replace normal marrow structure.
  • Sternal puncture or biopsies of liver or spleen will reveal typical “Gaucher’s cell”.
  • Round, pale cell, 20 – 80µ, containing small eccentric nucleus & wrinkled or “crumpled silk” cytoplasm.


Treatment & Prognosis:-

  • Prognosis of Type II is very poor; death within first year.

  • Less virulent form may persist till 6th decade.

  • Administration of purified glucocerebrosidase results in dramatic decrease in hepatic accumulations of glucocerebroside.

  • Enzyme replacement therapy available; effective but extremely expensive.


Shafer’s 8th edition

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