BACK
TO
TOP
Browse A-Z
Print-Friendly
Bookmarks
bookmarks-menu

Gaucher disease

Glucocerebrosidase deficiency; Glucosylceramidase deficiency; Lysosomal storage disease - Gaucher; Gaucher's disease

Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA).

Causes

Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease.

It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the disease gene to their child in order for the child to develop the disease. A parent who carries an abnormal copy of the gene but doesn't have the disease is called a silent carrier.

The lack of the GBA causes harmful substances to build up in the liver, spleen, bones, and bone marrow. These substances prevent cells and organs from working properly.

There are three main subtypes of Gaucher disease:

  • Type 1 is most common. It involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). Type 1 affects both children and adults. It is most common in the Ashkenazi Jewish population.
  • Type 2 usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.
  • Type 3 may cause liver, spleen, and brain problems. People with this type may live into adulthood.

Symptoms

Bleeding because of low platelet count is the most common symptom seen in Gaucher disease. Other symptoms may include:

Exams and Tests

The health care provider will perform a physical exam and ask about the symptoms.

The following tests may be done:

Treatment

Gaucher disease can't be cured. But treatments can help control and may improve symptoms.

Medicines may be given to:

  • Replace the missing GBA (enzyme replacement therapy) to help reduce spleen size, bone pain, and improve thrombocytopenia.
  • Limit production of fatty chemicals that build up in the body.

Other treatments include:

  • Medicines for pain
  • Surgery for bone and joint problems, or to remove the spleen
  • Blood transfusions 

Support Groups

These groups can provide more information on Gaucher disease:

Outlook (Prognosis)

How well a person does depends on their subtype of the disease. The infantile form of Gaucher disease (Type 2) may lead to early death. Most affected children die before age 5.

Adults with the type 1 form of Gaucher disease can expect normal life expectancy with enzyme replacement therapy.

Possible Complications

Complications of Gaucher disease may include:

Prevention

Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if a baby in the womb has Gaucher syndrome.

Open References

References

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 104.

Krasnewich DM, Sidransky E. Lysosomal storage diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 197.

Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elements of Medical Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.

  • Gaucher cell - photomicrograph

    Gaucher cell - photomicrograph - illustration

    Gaucher disease is called a lipid storage disease where abnormal amounts of lipids called glycosphingolipids are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.

    Gaucher cell - photomicrograph

    illustration

  • Gaucher cell - photomicrograph #2

    Gaucher cell - photomicrograph #2 - illustration

    Gaucher disease is called a lipid storage disease where abnormal amounts of lipids called glycosphingolipids are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.

    Gaucher cell - photomicrograph #2

    illustration

  • Hepatosplenomegaly

    Hepatosplenomegaly - illustration

    Liver and spleen enlargement (hepatosplenomegaly) can occur as the result of an inherited disorder in which the liver cannot process glucocerebroside. The buildup of this substance in body tissues can cause severe damage to the central nervous system in infants.

    Hepatosplenomegaly

    illustration

  • Gaucher cell - photomicrograph

    Gaucher cell - photomicrograph - illustration

    Gaucher disease is called a lipid storage disease where abnormal amounts of lipids called glycosphingolipids are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.

    Gaucher cell - photomicrograph

    illustration

  • Gaucher cell - photomicrograph #2

    Gaucher cell - photomicrograph #2 - illustration

    Gaucher disease is called a lipid storage disease where abnormal amounts of lipids called glycosphingolipids are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.

    Gaucher cell - photomicrograph #2

    illustration

  • Hepatosplenomegaly

    Hepatosplenomegaly - illustration

    Liver and spleen enlargement (hepatosplenomegaly) can occur as the result of an inherited disorder in which the liver cannot process glucocerebroside. The buildup of this substance in body tissues can cause severe damage to the central nervous system in infants.

    Hepatosplenomegaly

    illustration

 

Review Date: 10/13/2022

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
© 1997- adam.comAll rights reserved.

 
 
 

 

 

A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Content is best viewed in IE9 or above, Firefox and Google Chrome browser.