Gaucher Got You Down? Discover the Amazing Truth About Enzymes

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.

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Symptomatically, there is no one-size-fits-all for this rare disease. Even identical twins may experience different levels of severity. Frequent complaints are abdominal pain, and because the liver and spleen are involved, a greatly distended abdomen, skeletal abnormalities, and a decrease in healthy red blood cells–resulting in extreme fatigue. For the fortunate Gaucher patient, they have no symptoms at all.

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.

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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