Gaucher disease education for you
What is Gaucher disease?
Gaucher (pronounced go-SHAY) disease is a rare genetic condition that runs in families. It has a range of symptoms and severity divided into three types: type 1, type 2, and type 3. The types vary in what parts of the body are affected, when symptoms start, and how quickly they progress.
Like all LSDs, Gaucher disease is chronic (life-long) and progressive, meaning it can get more severe over time. Gaucher disease is often misdiagnosed or undetected. This can cause treatment delays, which may result in irreversible damage to bones and major organs; however, the earlier Gaucher disease is diagnosed, the sooner it can be appropriately managed.
If you think you or a family member may have Gaucher disease, talk to a doctor about possible next steps such as getting tested.
What causes Gaucher disease?
Gaucher disease is caused by alterations in the GBA1 gene. This gene produces an enzyme called glucocerebrosidase or GCase. Alterations in the GBA1 gene result in reduced GCase activity.
GCase is responsible for breaking down a fatty substance called glucosylceramide (also known as glucocerebroside) or GL-1. Reduced GCase activity can result in a buildup of GL-1 in bones and various organs, which leads to the signs and symptoms of Gaucher disease.
What are common Gaucher disease symptoms?
Gaucher disease presents on a spectrum of symptoms, meaning there is a range of symptoms and symptom severity that people may experience. Some individuals may have long periods of time with little or no symptoms present. Others may experience only certain symptoms. Symptoms and how they develop may not be the same for everyone, even for people in the same family. Common symptoms can include:
- Bone pain, decreased bone density, and bone fractures
- Easy bruising, bleeding
- Joint pain, joint deformity
- Protruding abdomen due to enlarged spleen and liver
- Low blood platelet count
- Anemia (low red blood cell count)
- Fatigue
- Symptoms related to the brain and nervous system (affect types 2 and 3)
*These are not all possible symptoms, nor do all patients have all the listed symptoms.
Who does Gaucher disease affect?
Gaucher disease can affect males and females of all ages. The estimated prevalence of Gaucher disease is 1 in 40,000. All types of Gaucher disease can be found in people of any ethnicity. Type 1 occurs more frequently among the Ashkenazi Jewish population, with an estimated incidence rate of 1 in 850.
How is Gaucher disease inherited?
Gaucher disease is an autosomal recessive condition, meaning it takes alterations in both copies of the GBA1 gene to cause Gaucher disease. Children inherit two copies of each gene from their biological parents (one copy from the mother, one copy from the father).
A person who has a single altered GBA1 gene is called a carrier. They do not have the condition or experience symptoms.
When both parents are carriers, with each birth there is a 25% chance that their child will have Gaucher disease; 25% chance that their child will not have Gaucher disease or carry the altered GBA1 gene; and 50% chance that their child will carry the altered GBA1 gene without having the condition.
Important note: If a family member has been diagnosed with Gaucher disease, it is important for direct relatives to get tested.
Sign up for personalized support
At CareConnect, we offer personalized support and resources to help you and your family navigate life with Gaucher disease. Your Patient Education Liaison (PEL) can assist you with disease and Sanofi treatment education, and information about inheritance patterns, genetic assessment and testing options. Your Case Manager can talk to you about health insurance, financial assistance, and care coordination.
Keep in mind: Your healthcare team is always the best source of information and point of contact if you have any questions or concerns about your health.
If you’re not enrolled and interested in speaking with a CareConnect team member, a Case Manager is available to speak with you Monday through Friday, 8AM-6PM EST.
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Call 1-800-745-4447 or email info@CareConnectPSS.com.
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Explore more resources
Learn more about Gaucher at gauchercare.com.
MAT-US-2409360-v1.0-11/2024. Last Updated: November 2024