Pharmacy Clinical Pearl of the Day: Gaucher Disease

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:

• Gaucher disease - Diagnosis and treatment - Mayo Clinic
• gaucher's disease - Google Search