A Rare Disease That Comes in Three Forms, Each With a Different Prognosis

Gaucher disease is a rare, inherited disease in which fatty deposits accumulate in critical organs and body systems, damaging them. It is caused by genetic mutations received from both parents.

On this page, you'll find more information about the various forms of the condition and their treatment, and links to useful Pfizer resources.

Disease Education Information

What Is Gaucher Disease?

People with this disease do not produce enough of an enzyme called glucocerebrosidase, which breaks down glucocerebroside, a fatty substance found in cells. Without sufficient enzyme, the fatty substance builds up in some cells and enlarges them. These enlarged cells are called Gaucher cells.

Over time, Gaucher cells collect in the liver, spleen, lungs, and bone marrow, damaging them until they can’t work the way they should. The bone-related damage can be especially painful and may eventually limit a person’s mobility. In rare cases, Gaucher cells can also collect in the brain and result in a more severe form of the disease.

Different Forms of the Disease

There are three different types of Gaucher disease.

  • Type 1 Gaucher disease is the most common form in the Western world and accounts for more than 90% of cases. The signs and symptoms of Type 1 can begin at any age, and usually include anemia, bruising, bleeding, abdominal pain (caused by an increase in spleen and liver size), bone pain, and growth problems. People with Type 1 Gaucher disease can often expect to have a normal life span. It occurs worldwide in all populations, but is most prevalent in the Ashkenazi Jewish population
  • Type 2 Gaucher disease is characterized by abnormalities of the central nervous system and is usually fatal during the first two to four years of life. It affects people worldwide, but is very rare
  • Type 3 Gaucher disease is very rare in the West, but more common in Asia and the Norrbotten region of Sweden. In this type of Gaucher disease, the neurologic symptoms progress slowly. Symptoms usually develop in childhood and continue through adulthood

Treatment can help with some of the non-neurologic symptoms of the disease, especially for people who receive a diagnosis and begin treatment early.

Who Gets Gaucher Disease and How?

About one in 57,000 people in the US (125,000 people worldwide) have Type 1 Gaucher disease. It can affect people of any ethnicity but is more common in people of Ashkenazi Jewish background. Within this population, roughly one in 855 have this condition.

Gaucher disease results when a child receives an abnormal gene from both parents. If a person inherits only one of these abnormal genes, he or she is considered a carrier who does not have the disease but can pass the gene on to the next generation.

What Are the Symptoms of Gaucher Disease?

Signs and symptoms of Gaucher vary from one person to another. Some people have very mild symptoms and live with them for years before being diagnosed with the disease. Others have more severe symptoms, which include:

  • Low hemoglobin (anemia)
  • Low platelet count
  • Enlarged liver
  • Enlarged spleen
  • Bone pain
  • Bone disease
  • Fatigue
  • Easy bruising

Less common signs and symptoms include:

  • Heart and lung problems
  • Cognitive impairment
  • Seizure
  • Dementia

How Is Gaucher Disease Diagnosed?

The condition is currently diagnosed by a blood test that measures glucocerebrosidase enzyme activity. For people with a known family history of Gaucher disease, a diagnosis can be confirmed with genetic testing.

Carrier testing can also be done for individuals who have a family history of the disease. If the child’s mother and father are both carriers, there is a 25% chance that the child will be affected by Gaucher disease and a 50% chance that the child will be a carrier.

Genetic counseling is recommended for prospective parents with a family history of Gaucher disease, and prenatal testing can also determine whether a fetus in the womb has Gaucher disease.

Can Gaucher Disease Be Treated?

Although there is currently no cure for Gaucher disease, treatment can help people manage some of the symptoms of the disease. Enzyme replacement therapy can be used in most patients with Types 1 and 3 Gaucher disease.

There are no effective treatments yet for the neurologic manifestations of Types 2 and 3 Gaucher disease, and for severe brain involvement.

Pfizer Rare Disease Resources for Gaucher Disease

For Healthcare Professionals
PfizerPro offers information on treatments for Gaucher disease and other rare diseases.
Pfizer Rare Disease Consortium
Pfizer is focusing on collaborations with world-class R&D organizations to advance and speed rare disease treatment innovations. The Pfizer Rare Disease Consortium in the UK, our first center of excellence in rare disease research, is a model for future collaborations in Europe and the US.
Patient Assistance Program – Pfizer RxPathways®
Pfizer RxPathways is Pfizer’s patient assistance program helps eligible patients get access to their Pfizer medicines by offering a range of support services.
Rare Disease Research