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Gaucher Disease

How to Say It: go-shay disease

Definition

Gaucher disease is a rare buildup of fatty substances in the bones, liver, lungs, spleen, and sometimes the brain.

There are 3 types. Type 1 is the most common. It results in mild health problems that can be treated. Children with type 2 usually do not live past two years of age. Children with type 3 can survive to adulthood.

Spleen
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Causes

Gaucher disease is caused by a faulty gene. The gene limits the amount of a certain enzyme. The enzyme normally breaks down a fat called glucocerebroside. The faulty gene lowers this enzyme and some of this fat is not broken down in the right way. This causes it to build up.

Risk Factors

This problem is more common in people of Ashkenazi Jewish descent. The risk may also be raised in people who have other family members with the disease.

Symptoms

Symptoms differ from person to person and across the 3 types of the disease. Common problems are:

  • Swollen belly
  • Easy bruising
  • Lack of energy
  • Bone pain
  • Slow growth
  • Delayed puberty
  • Breathing problems

Diagnosis

You will be asked about your child's symptoms and health history. A physical exam will be done. Blood tests will be done.

Treatment

There is no cure. Type 1 can be managed by replacing the missing enzyme. This does not affect the neurological symptoms found with types 2 and 3. Supportive care is often the only option for type 2 and 3 symptoms.

Here are some treatments:

  • Medicines to:
    • Replace the missing enzyme
    • Lower the amount of glucocerebroside the body makes
    • Ease pain
    • Improve bone strength
  • Splenectomy to remove an enlarged spleen

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

Gauchers Association
http://www.gaucher.org.uk

National Gaucher Foundation
http://www.gaucherdisease.org

CANADIAN RESOURCES:

Health Canada
https://www.canada.ca

The National Gaucher Foundation of Canada
http://www.gauchercanada.ca

REFERENCES:

About Gaucher. Gauchers Association website. Available at: http://www.gaucher.org.uk/about_gaucher. Accessed November 5, 2020.

Gaucher disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/gaucher-disease. Accessed November 5, 2020.

Gaucher disease. National Gaucher Foundation website. Available at: https://www.gaucherdisease.org/about-gaucher-disease/what-is. Accessed November 5, 2020.

Gaucher disease information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Gaucher-Disease-Information-Page. Accessed November 5, 2020.

Pastores GM, Hughes DA. Gaucher Disease. GeneReviews 2015 Feb 26.

Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD  Last Updated: 5/11/2021