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|Articles|January 3, 2022
Pharmacy Clinical Pearl of the Day: Gaucher Disease
Author(s)Saro Arakelians, PharmD
Symptoms of Gaucher disease include abdominal complaints, skeletal abnormalities, and blood disorders.
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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.
Sources:
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