Gaucher disease type 1
Other Names for this Disease
- Acid beta-glucosidase deficiency
- Gaucher disease, noncerebral juvenile
- GBA DEFICIENCY
- GD 1
- Glucocerebrosidase deficiency
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Your QuestionMy sister passed away several years ago from complications of Gaucher disease. She was petite in build and darker skinned than any of her siblings who had much lighter complexions and stockier builds. Would these differences have been due to Gaucher disease?
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Although symptoms of Gaucher disease type 1 may vary greatly, the major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), chronic fatigue, lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.  Short stature and muscle wasting are occasionally found in patients whose bodies expend a huge amount of energy due to massive hepatosplenomegaly. Very rarely the eyes, kidneys, skin pigment or gastrointestinal tract can be affected. 
Last updated: 2/10/2011
- Gaucher disease. Genetics Home Reference. September 2014; http://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed 11/4/2015.
- Sidransky, E. Gaucher Disease. E-medicine. July 22, 2010; http://emedicine.medscape.com/article/944157-overview. Accessed 2/8/2011.
- Haute Autorité de Santé. Gaucher disease: National Diagnosis and Treatment Protocol. OrphaNet. January 2007; http://www.orpha.net/data/patho/Pro/en/GaucherPNDS-FRenPro644.pdf. Accessed 2/3/2011.