Gaucher Disease

Understanding Gaucher Disease

Gaucher disease is a rare, inherited lysosomal storage disorder caused by mutations in the GBA gene, which leads to a deficiency in the enzyme glucocerebrosidase. This enzyme is responsible for breaking down a fatty substance called glucocerebroside. When the enzyme is deficient, glucocerebroside accumulates in the spleen, liver, bone marrow, and other tissues, resulting in organ enlargement and bone-related complications.

Common Signs and Symptoms of Gaucher Disease:

• Organ Enlargement:
  • Splenomegaly: An enlarged spleen, which may cause abdominal discomfort and early satiety.
  • Hepatomegaly: An enlarged liver.
• Hematologic Abnormalities:
  • Anemia and low blood platelet counts, which can lead to fatigue and easy bruising or bleeding.
• Bone Problems:
  • Bone pain, fractures, and bone crises due to weakened bone structure.
  • Osteopenia or osteoporosis, increasing fracture risk.
• Growth and Development Issues:
  • In children, delayed growth or development may occur.
• General Symptoms:
  • Fatigue and weakness related to anemia and chronic inflammation.

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.