About Gaucher Disease

Overview

Gaucher Disease (pronounced go-shay) is a rare genetic (or inherited) metabolic condition in which there is a low level of a specific protein (called an enzyme) present. The function of this enzyme is to break down waste material within specific compartments (called lysosomes [pronounced lie-so-soams]), inside cells.

Having a metabolic condition means the body has difficulty with (a) specific chemical reaction(s) because it isn’t making a specific enzyme properly

  • The waste material that builds up is a fatty substance called glucocerebroside (pronounced gloo-ko-ser-e-bro-side}
  • Glucocerebroside is broken down by an enzyme called glucocerebrosidase (pronounced gloo-ko-ser-e-bro-sy-dase)
  • In Gaucher Disease, glucocerebrosidase is the enzyme that is found in lower levels (vs people without this disease)
  • Gaucher Disease is one member of a family of diseases called lysosomal storage disorders
  • Gaucher Disease occurs in about 1 in 57,000 to 1 in 100,000 live births, but is more common in the Ashkenazi Jewish population (1 in 855 live births)

When a significant amount of the waste substance glucocerebroside accumulates in the cells, some organs of the body are not able to function properly, leading to symptoms

  • Glucocerebroside builds up in cells called macrophages (cells that are “garbage collectors”)
  • Macrophages with high amounts of glucocerebroside are called Gaucher cells
  • Organs affected include liver, spleen and bone, and sometimes the lungs and the central nervous system

Signs and symptoms may show up from early childhood through the adult years. Some people may have no signs or symptoms. It is difficult to predict who will develop symptoms, when they will develop symptoms, and how severe the symptoms may be.

Signs and symptoms may include

  • Delayed growth in children
  • Reduced appetite
  • Bone pain and bone breaks (“fractures”)
  • Aching joints
  • Easy bruising
  • Nosebleeds
  • Low red blood cell and platelet counts (blood components)
  • Enlarged belly (from enlarged liver and spleen)
  • Tiredness