Gaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder, in which deficiency of the enzyme glucocerebrosidase leads to the accumulation of its substrate glucocerebroside throughout the body, primarily in the spleen, liver, and bone marrow. The accumulation of glucocerebroside in the different areas of the body leads to the progressive, multi-systemic, and heterogeneous nature of the disease.
There are three types of GD. Type 1 Gaucher disease (GD1) is the most prevalent form of the disease, accounting for more than 90% of all cases.
- Unlike type 2 and 3 GD, GD1 is nonneuronopathic.
- Individuals with GD1 can begin to exhibit symptoms at any age, including during early childhood and late adulthood.
- The type and severity of symptoms will also vary among patients, and there can be varying degrees of involvement presenting in different organs in the same individual. This can be related to the rate of substrate accumulation.
- The clinical course and life expectancy for patients with GD1 are also variable. While untreated patients will generally survive to adulthood, early recognition, diagnosis, and treatment of GD1 are key for the best possible patient outcomes and quality of life.
- An early clinical presentation predicts a more severe disease course, highlighting the importance of recognizing GD1 as soon as possible to help ensure earlier intervention and inform treatment decisions.
For more information, visit https://www.knowgaucherdisease.com/hcp/overview/