National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Gaucher disease type 1

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My 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?
Although symptoms of Gaucher disease type 1 (GD1) may vary greatly, the major 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 disease such as bone pain, fractures, and arthritis. People with GD1 may be at in increased risk for Parkinson disease, peripheral neuropathy, certain cancers, and osteoporosis.[1][2]
Last updated: 12/9/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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  1. Utz J, Whitley CB, van Giersbergen PL, and Kolb SA. Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions. Mol Genet Metab. February 2016; 117(2):172-8. https://www.ncbi.nlm.nih.gov/pubmed/26674302.
  2. Gaucher Disease Type 1. National Gaucher Foundation. http://www.gaucherdisease.org/about-gaucher-disease/what-is/type-1/. Accessed 12/9/2016.