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.
Dr. Mistry noted that Gaucher disease type 1 is more common in Ashkenazi Jewish populations, the more severe type 2 and 3 are more common globally.
ERT is the standard of care for both Gaucher disease type 1 and 3, however that treatment cannot cross the blood brain barrier.
To learn more about Gaucher disease and other genetic disorders, go to checkrare.com/diseases/congenital-and-genetic-conditions/