Gaucher Disease

If you have Gaucher disease, there is not enough active enzyme in your body. The function of the enzyme is to break down and help recycle a fatty substance called glucocerebroside in the macrophage cells. When the fatty substance accumulates in the macrophages they are called Gaucher cells. Gaucher cells build up in the liver, spleen, bone marrow (the spongy tissue inside the bones) and other organs, such as the lungs, causing a wide range of symptoms.

Click on the animation below to see a simplified illustration of how Gaucher disease affects the lysosomes of cells.

To learn about the most common manifestations seen in untreated pediatric patients and how they evolve click here

Depending on your symptoms you will be diagnosed with a specific type of Gaucher disease. Although Gaucher disease can affect you at any age, it is inherited. As a result, your family members are also at risk of having it, or may be carriers of the disease.

Gaucher disease is a lifelong condition. It is also progressive in most cases. That means it can get worse with time, especially if it’s not treated. To meet your treatment goals, it’s important for you to learn more about managing your disease and have regular monitoring tests. It also helps to share with and learn from others. Find out more about Gaucher Link.