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The contents of this site are not intended for the purpose of disease diagnosis or as a substitute for information that is provided to you by your physician. You should always discuss your medical condition and any questions you have with your doctor.

Type 1 Gaucher Disease

Type 1 Gaucher disease is a rare genetic condition and the most common lysosomal storage disorder. It is thought to affect approximately 1 in 100,000 people in the general population. However, in specific populations, it’s much more common. For instance, in Jewish populations of Central and Eastern European (Ashkenazi) origin, the disease prevalence is 1 in every 855 people.

What causes type 1 Gaucher disease?

Gaucher disease occurs when an important enzyme called glucocerebrosidase is missing or doesn’t work the way it should. This means the body is unable to break down and recycle a specific kind of fatty substance, which then builds up, mainly in the spleen, liver, bone marrow and lungs.

Type 1 Gaucher disease is the most common of the 3 types of Gaucher disease. It is genetic, meaning it’s passed down through families. If both parents are carriers of a defective chromosome, there is a chance their child will have Gaucher disease.

Image demonstrating the heredity of Type 1 Gaucher disease

Family history

Type 1 Gaucher gene carrier

Unaffected

Affected

About type 1 Gaucher disease

Symptoms can be very different from person to person, even within the same family, and they can occur at any age. Some patients might not experience symptoms until adulthood.

Typical type 1 Gaucher signs and symptoms include

  • Enlarged spleen and liver
  • Low levels of circulating red blood cells (anemia)
  • Low platelet count (thrombocytopenia)

How is type 1 Gaucher disease diagnosed?

Because type 1 Gaucher disease is rare and its symptoms can look similar to those in other disorders, healthcare professionals may have difficulty diagnosing it accurately. And, because the disease can progress at varying rates, diagnosis may also be delayed because symptoms might not appear right away.

To confirm a diagnosis, your doctor will likely run a blood test, which is used to measure glucocerebrosidase activity. Your doctor may also perform DNA analysis to see if there is a gene variation. DNA-based testing of a blood sample can identify variations, or mutations, in the gene responsible for the production of glucocerebrosidase.

Where can I find support?

Talking with other people who understand some of the challenges associated with being a type 1 Gaucher patient based on first-hand experience can give you ways to learn about type 1 Gaucher disease and build a support network. The following organizations offer a variety of resources and opportunities to get involved in the rare disease community.

Shire provides funding to the below organization in support of efforts that include, but are not limited to: research, education, meetings/events and support.

National Organization for Rare Disorders (NORD)

A rare disease umbrella organization that provides advocacy, research, education and patient services in the US. See how they help and find out how you can get involved.

National Gaucher Foundation (NGF)

The NGF helps support the Gaucher community through financial, educational and research programs. Follow them for the latest info and explore the resources on their website.

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