• Overview
• Inheritance
• Symptoms
  • The Liver and Spleen
  • The Blood
  • The Bones
• Testing
• Treatment
• Resources

The Liver and Spleen

People with Gaucher disease often develop hepatosplenomegaly, an enlargement of the liver and spleen. Normally, a person's spleen volume (in cubic centimeters or cc) is equal to their weight (in kilograms) X 2, and their liver volume (in cc) is equal to their weight (in kilograms) X 25. In Gaucher disease, these organs may grow to many times their normal size, due to the accumulation of Gaucher cells.

Splenomegaly (enlarged spleen) may cause a shortage of red blood cells (anemia), leading to fatigue, and a shortage of white blood cells, leading to a higher risk for infection. Splenomegaly may also reduce the number of platelets, blood cells that help with clotting, causing bleeding and easy bruising.

Hepatomegaly (enlarged liver) may lead to liver disease, such as cirrhosis.

Monitoring

The Center recommends yearly MRI of the liver and spleen to monitor their volumes and their response to treatment. People who receive treatment often experience a significant decrease in liver and spleen size. The Center strongly recommends that the MRI studies be done at UCSF or Stanford because of the high quality of the machine and the staff's expertise in Gaucher disease.