Gaucher Disease: The Three Types of an Inherited Lipid Metabolism Disorder

Gaucher disease is a rare, inherited lipid metabolism disorder. People with it lack enough of an enzyme called glucocerebrosidase, so a fatty substance builds up in the spleen, liver, lungs, bones and sometimes the brain, and keeps those organs from working properly.

The three types

• Type 1, the most common, enlarges the liver and spleen and causes bone pain and fractures, and sometimes lung and kidney problems. It does not affect the brain, and it can appear at any age.
• Type 2 appears in infants and causes severe brain damage. Most children with it die by age 2.
• Type 3 may enlarge the liver and spleen, and gradually affects the brain. It usually begins in childhood or adolescence.

Treatment

There is no cure. For types 1 and 3, treatment includes medicine and enzyme replacement therapy, which usually works very well. There is no good treatment for the brain damage of types 2 and 3.

Sources

• MedlinePlus, U.S. National Library of Medicine, "Gaucher Disease," drawing on the NIH National Institute of Neurological Disorders and Stroke. https://medlineplus.gov/gaucherdisease.html
• Rewritten in hubnx's own words.