Frequently asked questions (FAQs)
Here are some frequently asked questions about Gaucher disease, testing, treatment, and other resources, as well as answers to those questions.
Gaucher disease is a rare, inherited lysosomal storage disorder. People with the disorder do not produce enough of an enzyme to break down a fatty substance in their body. The fatty substance builds up in cells and causes the signs and symptoms of Gaucher disease.
Type 1 Gaucher disease affects a person’s blood and body organs. It’s the only type that generally doesn’t affect the central nervous system. Symptoms may include enlarged liver, enlarged spleen, low hemoglobin count, and low platelet count.
A person who has Gaucher disease was born with it. The condition is passed on from generation to generation through a person’s parents. If both parents have the condition, all of their children will have Gaucher disease. If both parents are carriers for the disease, each of their children has a 1 in 4 chance to have Gaucher disease.
If a family member is a carrier for, or has, Gaucher disease, it is a good idea to ask a health care professional about getting a genetic test to determine if you also have or carry the disease.
The signs and symptoms of Gaucher disease can vary from person to person and also depend on what type of the disease a person has. Talk to your doctor for more details about the signs and symptoms of Gaucher disease.
It is a good idea to talk to a family doctor or a personal care physician about Gaucher disease or testing for it. They may refer you to a hematologist (a doctor who specializes in blood disorders) or a geneticist (a doctor who specializes in genes and heredity).
It is also important to write down any symptoms you or a loved one may experience, your family medical history, a list of medications you or your loved one are taking, and any key personal information. This information will be helpful to your doctor.
There are a number of tests that can show whether a person has Gaucher disease. Talk to your doctor to find out more information.
Insurance coverage may vary from person to person. Pfizer Gaucher Personal Support (GPS) offers support services for people who may need assistance paying for ELELYSO and supplies. Whether you are insured, underinsured, or uninsured, a GPS Case Manager can help identify the appropriate programs that are available to assist you.
There are different types of treatments. One treatment for Type 1 Gaucher disease is enzyme replacement therapy (ERT). ERT replaces a person's missing glucocerebrosidase (pronounced GLOO-ko-SER-e-bro-sy-daze)—the enzyme that breaks down the fatty substance that builds up in people with the condition. The treatment is delivered intravenously—directly into a person’s vein—usually over the course of 1 to 2 hours. Another treatment for Type 1 Gaucher disease is substrate reduction therapy (SRT). SRT reduces the production of the fatty substance glucocerebroside (GLOO-ko-SER-a-bro-side) that builds up in the organs of people with the condition. Talk to your doctor for more information about treatments for Type 1 Gaucher disease.
ELELYSO is a plant cell-based enzyme replacement therapy (ERT) for treatment of patients 4 years and older with a confirmed diagnosis of Type 1 Gaucher disease. ELELYSO is also the first prescription medicine certified kosher by the Orthodox Union.
ELELYSO is given by intravenous infusion once every 2 weeks by a health care professional. These infusions usually take 60 to 120 minutes.
ELELYSO is supplied as 200 Units per vial and is available by prescription only.
Currently, there is no cure for Gaucher disease. However, treatments to help patients with symptoms of Type 1 Gaucher disease are available in the US.
Gaucher disease occurs in about 1 in 50,000 to 1 in 100,000 people. It is more common among people of Ashkenazi Jewish heritage, where it occurs in about 1 in 600 people.
There are at least 19 genetic diseases that commonly affect people with an Ashkenazi Jewish background and, of the 19, Gaucher disease is the most common. It is important to get tested for all 19 if you are of Ashkenazi Jewish heritage. Additionally, there are other genetic diseases that affect people of Sephardic/Mizrahi Jewish heritage.
Please be aware that there are many laboratories offering Ashkenazi Jewish genetic disease screenings with panels varying from 19-38 diseases. These options can be discussed with your physician or genetic counselor.
To learn more about these different genetic diseases and how to get tested, please visit the Jewish Genetic Disease Consortium.
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Ask your doctor or visit the National Gaucher Foundation to find nearby specialists or treatment centers.
This website is neither owned nor controlled by Pfizer. Pfizer does not endorse and is not responsible for the content or services of this site.