Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function.
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 your blood's ability to clot.
An enzyme that breaks down these fatty substances doesn't work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.
An inherited disorder, Gaucher disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.
May 24, 2017
- Hughes D. Gaucher disease: Pathogenesis, clinical manifestations and diagnosis. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
- Gaucher disease (Type 1). Genetic Disease Foundation. http://www.geneticdiseasefoundation.org/genetic-diseases/gaucher-disease-type-i/. Accessed Jan. 6, 2017.
- Hughes D. Gaucher disease: Initial assessment, monitoring and clinical course. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
- Gaucher disease. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/gaucher-disease. Accessed Jan. 6, 2017.
- National Library of Medicine. Gaucher disease. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed Jan. 6, 2017.
- Hughes D. Gaucher disease: Treatment. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
- FDA approves new drug to treat a form of Gaucher disease. U.S. Food and Drug Administration. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm410585. Accessed Jan. 6, 2017.