Gaucher Disease By Savannah hettman


  • Rare
  • Genetic
  • Characterized by the deposition of glucocerebroside in cells
  • Results from the deficiency of the enzyme glucocerebrosidase.
  • Three types:
  • Type 1 - Non Neuronopathic Gaucher disease
  • Type 2 - Acute neuronopathic Gaucher disease
  • Type 3 - Chronic neuronopathic Gaucher disease


  • Type 1 disease commonly present patients with painless splenomegaly, anemia, or thrombocytopenia, chronic fatigue, hepatomegaly (with or without abnormal liver function test findings), bone pain, or pathologic fractures and may bruise easily because of thrombocytopenia. Bleeding may begin as nosebleeds, bruising, or both.
  • Type 2 disease may be present in patients at birth or during infancy with increased tone, seizures, strabismus, and organomegaly, failure to thrive, swallowing abnormalities, oculomotor apraxia, hepatosplenomegaly, and stridor due to laryngospasm are typical in infants.
  • In addition to organomegaly and bony involvement, individuals with type 3 disease have neurologic involvement.


  • Diagnosis can be confirmed through measurement of glucocerebrosidase activity in peripheral blood leukocytes.
  • A finding of less than 15% of mean normal activity is diagnostic.
  • Minor elevations of liver and angiotensin-converting enzyme levels are common.
  • DNA analysis is also being used to establish the presence of two mutant alleles, especially in diagnostic panels.


  • Enzyme replacement therapy (ERT) is indicated for patients with Type 1 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. An oral glucosylceramide inhibitor can be an alternate efficacious therapy.


  • Adults with type 1 have a large chance at survival
  • Infants who have type 2 will most likely die before the age of 5.

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