Gaucher disease

Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). People living with Gaucher disease either do not make enough of the enzyme glucocerebrosidase (needed to break down lipids) or they have enzymes that do not work properly. Fatty materials can build up in the brain and other organs as a result.

General symptoms may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes.

Gaucher disease is broken up into three common types.

• Type 1 (or nonneuropathic) most often does not affect the brain. Symptoms may begin early in life or in adulthood. Many people with a mild form of the disease may not show any signs. People with type 1:
  • Usually bruise easily due to low blood platelets
  • Feel fatigued due to anemia
  • May have an enlarged liver and spleen

• Type 2 (acute infantile neuropathic Gaucher disease) symptoms usually begin by 3 months of age. Children with type 2 usually die before 2 years of age. Symptoms include:
  • Extensive brain damage
  • Seizures
  • Spasticity
  • Poor ability to suck and swallow
  • Enlarged liver and spleen

• Type 3 (or chronic neuropathic Gaucher disease) includes:
  • Signs of brain involvement
  • Seizures
  • Skeletal irregularities
  • Eye movement disorders
  • Cognitive deficit
  • Poor coordination
  • Enlarged liver and spleen
  • Breathing problems
  • Blood disorders

Treatment can prevent or lessen some symptoms of the disease. Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. The U.S. Food and Drug Administration (FDA) has also approved eligustat tartrate for Gaucher treatment. Rarely, surgery to remove the whole or part of the spleen may be required. Blood transfusions may benefit some people who are anemic. Other people may need joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may affect people with types 2 and 3 Gaucher disease.

Successful bone marrow transplants can reverse the non-neurological effects of the disease, but the procedure carries a high risk and is rarely performed in people with Gaucher disease. People with Gaucher disease type 1 are at increased risk for Parkinson's disease and Lewy Body Dementia. Gaucher disease type 2 is usually fatal by age 2. People with Gaucher type 3 may have a shortened life expectancy.

How can I or my loved one help improve care for people with Gaucher disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Gaucher disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Gaucher disease at Clinicaltrials.gov.

Where can I find more information about Gaucher disease?

The following organizations and resources help individuals, families, friends, and caregivers of people living with Gaucher disease:

Children's Gaucher Research Fund

Gaucher Community Alliance

National Gaucher Foundation, Inc.

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish

National Tay-Sachs and Allied Diseases Association
Phone: 800-906-8723

Content source: https://www.ninds.nih.gov/health-information/disorders/gaucher-disease Accessed July 12, 2023.

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