Pharmacy Clinical Pearl of the Day: Gaucher Disease

Symptoms of Gaucher disease include abdominal complaints, skeletal abnormalities, and blood disorders.

Clinical Pearl of the Day:Gaucher’s disease

Gaucher disease is the result of a buildup of certain fatty substances in certain organs, particularly the spleen and liver.

Insight:

  • The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.
  • If the bone marrow is affected, it can interfere with the blood's ability to clot.
  • Symptoms include abdominal complaints, skeletal abnormalities, and blood disorders.
  • Causes include hereditary history in the parents of the patient.
  • Risk factors include Eastern and Central European Jewish ancestry.
  • Diagnosis includes physical exam, lab tests, and imaging studies.
  • Treatment includes enzyme replacement therapies, miglustat (Zavesca), eliglustat (Cerdelga), and osteoporosis drugs.

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