Gaucher Disease Type 1, Type 2, and Type 3 Explained

Pramod Mistry, MD, PhD, Professor of Medicine at Yale University School of Medicine, provides an overview of the different types of Gaucher disease. Gaucher disease is a rare lysosomal disorder due to reduced levels of glucocerebrosidase that leads to the accumulation of glucocerebroside in cells and certain organs. There are three types of Gaucher disease – type 1, 2, and 3. Gaucher disease type 1 mostly impacts the periphery. Gaucher disease type 2 impacts both the periphery and brain, and is the most severe type of disease. Gaucher disease type 3 is less severe than type 2 but can impact the brain. The symptoms of Gaucher disease type 1 and type 3 can include enlargement of the liver and spleen, anemia, thrombocytopenia (low platelet count), bone pain and fractures. Persons with Gaucher disease type 3 may also show cognitive impairment, eye problems, seizures, and/or a loss of coordination. ERT is the standard of care for both Gaucher disease type 1 and 3, however that treatment cannot cross the blood brain barrier. Currently, there is no treatment for the more severe Gaucher disease type 2.