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.
- 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.