Gaucher disease occurs when the body doesn’t produce the enzyme beta-glucocerebrosidase, which is needed to break down fats, or lipids. As a result, fatty deposits collect in the spleen and liver, but bone marrow can also be affected.
When this happens, the patient is more prone to fractures, and may also blood clotting problems. This is an inherited disorder, and people of Eastern and Central European descent are more likely to have Gaucher. Another population at risk are Ashkenazi Jews. Approximately 1 in 450 Ashkenazim have Gaucher, making it the number 1 inherited disorders among the Jewish population.
In the past, before treatment was available, patients suffered greatly. Fortunately, since research began in earnest in 1984, enzyme replacement therapy has led to great improvements in the quality of life for Gaucher patients, and many people don’t have to suffer the debilitating effects of this lysosomal storage disorder.
As with many rare diseases, there is very little understanding among the general population, so Gaucher patients are encouraged to reach out to the National Gaucher Foundation. There are associations throughout the world that provide support, as well. Click here for more information on locating a group near you.
