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Copyright ©2008 The WJG Press and Baishideng. All rights reserved.
World J Gastroenterol. Jul 7, 2008; 14(25): 3968-3973
Published online Jul 7, 2008. doi: 10.3748/wjg.14.3968
Gaucher disease: New developments in treatment and etiology
Ozgur Harmanci, Yusuf Bayraktar
Ozgur Harmanci, Yusuf Bayraktar, Department of Gastro-enterology, Hacettepe University Faculty of Medicine, Sihhiye 06100, Ankara, Turkey
Author contributions: Harmanci O and Bayraktar Y contributed equally to this work.
Correspondence to: Ozgur Harmanci, MD, Department of Gastroenterology, Hacettepe University Faculty of Medicine, Sihhiye 06100, Ankara, Turkey. ozgurmd@hacettepe.edu.tr
Telephone: +90-312-4439428
Fax: +90-312-4429429
Received: March 31, 2008
Revised: April 12, 2008
Accepted: April 19, 2008
Published online: July 7, 2008
Abstract

Gaucher disease (GD) is an autosomal recessive disease which if undiagnosed or diagnosed late results in devastating complications. Because of the heterozygous nature of GD, there is a wide spectrum of clinical presentation. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly, anemia, massive splenomegaly, ascites and even cirrhosis of unknown origin. The treatment options for adult type GD include enzyme replacement treatment (ERT) and substrate reduction treatment (SRT) depending on the status of the patient. Future treatment options are gene therapy and “smart molecules” which provide specific cure and additional treatment options. In this review, we present the key issues about GD and new developments that gastroenterologists should be aware of.

Keywords: Gaucher disease; Enzyme replacement treatment; Substrate reduction treatment; Gene therapy; Liver fibrosis