Gaucher Disease (cont.)
Melissa Conrad Stöppler, MD
Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
In this Article
- Gaucher disease facts*
- What is Gaucher disease?
- How common is Gaucher disease?
- Who is at risk for Gaucher disease?
- What are the major signs and symptoms of Gaucher disease?
- What genes are related to Gaucher disease?
- How do people inherit Gaucher disease?
- What is the treatment for Gaucher disease?
- Why should I talk to my family about Gaucher disease?
- How are families affected by Gaucher disease?
- Why is it important to let my family know I have Gaucher disease?
- How do I talk to my family about Gaucher disease?
- How do I prepare to talk to my family about Gaucher disease?
- Conversation starters
- What should I do if my family does not want to talk about Gaucher disease?
- Where can I find more about management for Gaucher disease?
- What other names do people use for Gaucher disease?
What genes are related to Gaucher disease?
Mutations in the GBA gene cause Gaucher disease.
The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.
How do people inherit Gaucher disease?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What is the treatment for Gaucher disease?
- Treatment for Gaucher disease depends upon the type of Gaucher disease and the symptoms and signs of the disease.
- Symptoms in individuals with type 1 Gaucher disease may be treated with enzyme replacement therapy (ERT). ERT is not an optoin for all patients with Gaucher disease, so for those patients glucosylceramide synthase inhibitors like miglustat (Zavesca) and eliglustat (Cerdelga) are available.
- Some individuals with Gaucher disease may need surgery if ERT is not effective.
Why should I talk to my family about Gaucher disease?
Gaucher is a rare condition (relative to other chronic health conditions). Most people do not know what it is and might never have heard of it. You may find that many doctors and other health-care professionals do not know much about it. It is important to help your family and healthcare providers understand what Gaucher is, what it means for you, and how your diagnosis might impact your family. Some topics to share are major signs and symptoms and how the condition is passed down through families. Turn the page for more information on Gaucher.
Sharing your story will help your relatives understand their family health history. In turn, it is helpful for you to know your whole family health history, including Gaucher and other conditions that might run in your family. Putting the whole picture together will help you and your relatives:
- Identify risks due to shared genes.
- Talk to each other about health (including quality of life).
- Summarize health information to give to health-care professionals.
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