Gaucher Disease

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

What is Gaucher disease?

Gaucher disease (sometimes called Gaucher's disease) is an inherited condition that results in the abnormal accumulation of fatty substances known as glycolipids in different body tissues due to a deficiency of an enzyme known as glucocerebrosidase. There are several different types of the condition, and the signs and symptoms that arise due to the sphingolipid accumulation vary widely. Gaucher disease is due to a genetic defect in a gene known as GBA1. Gaucher disease belongs to a class of diseases called lysosomal storage diseases, named after a type of cell that is affected by the buildup of glycolipids.

What are the symptoms of Gaucher disease?

The main signs and symptoms of Gaucher disease are:

People with type 1 Gaucher disease usually first notice painless enlargement of the spleen, anemia, or bleeding and bruising due to low platelet count. The enlargement of the spleen may become severe and may limit a child's growth due to the energy required to sustain the enlarging spleen. An enlarged liver and abnormal liver function tests are also characteristic signs. Skeletal involvement by Gaucher disease is common and can take the form of bone pain, fractures of bone, and a defect of the thigh bone (femur).

Medically Reviewed by a Doctor on 7/5/2016

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