Gaucher disease
St. Luke's Hospital
Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Find a Physician Payment Options Locations & Directions
Follow us on: facebook twitter Mobile Email Page Email Page Print Page Print Page Increase Font Size Decrease Font Size Font Size
America's 50 Best Hospitals
Meet the Doctor
Spirit of Women
Community Health Needs Assessment
Home > Health Information

Pediatric Center

Gaucher disease

Definition

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

Alternative Names

Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Causes

Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to get this disease.

It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease. A parent who silently carries an abnormal copy of the gene is called a carrier.

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

There are three main subtypes of Gaucher disease:

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

Symptoms

Symptoms vary, but may include:

  • Bone pain and fractures
  • Cognitive impairment
  • Easy bruising
  • Enlarged spleen (splenomegaly)
  • Enlarged liver (hepatomegaly)
  • Fatigue
  • Heart valve problems
  • Lung disease
  • Seizures
  • Severe swelling (edema) at birth
  • Skin changes

Exams and Tests

The doctor or nurse will examine you. This may show signs of liver and spleen swelling, bone changes, lung disease, eye movement problems, heart problems, or hearing loss.

The following tests may be done:

  • Blood test to look for enzyme activity
  • Bone marrow aspiration
  • Biopsy of the spleen
  • MRI
  • CT
  • X-ray of the skeleton
  • Genetic testing

Treatment

Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.

Support Groups

For more information contact:

Outlook (Prognosis)

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

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

Possible Complications

  • Seizures
  • Anemia
  • Thrombocytopenia
  • Bone problems

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.

References

McGovern MM, Desnick RJ. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 80.4.

Genetic Disorders. In: Kumar V, Abbas AK, Fausto N, Aster JC. Robbins and Cotran Pathologic Basis of Disease. 8th ed. St. Louis, Mo: WB Saunders; 2009: chap.5



Review Date: 11/12/2012
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, Stephanie Slon, and Nissi Wang.
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. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com


Back  |  Top
About Us
Contact Us
History
Mission
Locations & Directions
Quality Reports
Annual Reports
Honors & Awards
Community Health Needs
Assessment

Newsroom
Services
Brain & Spine
Cancer
Heart
Maternity
Orthopedics
Pulmonary
Sleep Medicine
Urgent Care
Women's Services
All Services
Patients & Visitors
Locations & Directions
Find a Physician
Tour St. Luke's
Patient & Visitor Information
Contact Us
Payment Options
Financial Assistance
Send a Card
Mammogram Appointments
Health Tools
My Personal Health
mystlukes
Spirit of Women
Health Information & Tools
Clinical Trials
Health Risk Assessments
Employer Programs -
Passport to Wellness

Classes & Events
Classes & Events
Spirit of Women
Donate & Volunteer
Giving Opportunities
Volunteer
Physicians & Employees
For Physicians
Remote Access
Medical Residency Information
Pharmacy Residency Information
Physician CPOE Training
Careers
Careers
St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Copyright © St. Luke's Hospital Website Terms and Conditions  |  Privacy Policy  |  Patient Notice of Privacy Policies PDF Sitemap St. Luke's Mobile