About gaucher disease

What is gaucher disease?

Gaucher disease is an inherited disorder of metabolism that interferes with many body functions.

  • There are different forms of Gaucher disease.
  • The perinatal lethal form is the most severe type of Gaucher disease.
  • Enlargement of the liver and spleen, anemia, bone abnormalities, and low platelet levels are among the symptoms of Gaucher disease.
  • Gaucher disease occurs in 1 out of every 50,000 to 100,000 people and is more common in people with Ashkenazi Jewish heritage. Gaucher disease is inherited in an autosomal recessive fashion.
  • Mutations in the GBA gene cause a defect in the enzyme beta-glucocerebrosidase, leading to a buildup of glucocerebroside within cells.
  • Enzyme replacement therapy is a treatment option for some people with Gaucher disease.
  • The most common form of the condition is Gaucher disease type 1.

What is Gaucher disease?

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

What are the symptoms for gaucher disease?

There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common.

Siblings, even identical twins, with the disease can have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.

Most people who have Gaucher disease have varying degrees of the following problems:

  • Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
  • Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
  • Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.

More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.

When to see a doctor

If you or your child has the signs and symptoms associated with Gaucher disease, make an appointment with your doctor.

What are the causes for gaucher disease?

Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.

What are the treatments for gaucher disease?

While there's no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don't need treatment.

Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you'll need to be monitored will depend on your situation.


Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with:

  • Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial ones. These replacement enzymes are given in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people have an allergic or hypersensitivity reaction to enzyme treatment.
  • Miglustat (Zavesca). This oral medication appears to interfere with the production of fatty substances that build up in people with Gaucher disease. Diarrhea and weight loss are common side effects.
  • Eliglustat (Cerdelga). Approved by the Food and Drug Administration in 2014 for treating the most common form of Gaucher disease, this drug also seems to inhibit the production of fatty substances that build up in people with this this condition.Possible side effects include fatigue, headache, nausea and diarrhea.
  • Osteoporosis drugs. These types of medication can help rebuild bone weakened by Gaucher disease.

Surgical and other procedures

If your symptoms are severe and you're not a candidate for less invasive treatments, your doctor might suggest:

  • Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher signs and symptoms. Because this is a high-risk approach, it's performed less often than is enzyme replacement therapy.
  • Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher disease. Now this procedure typically is used as a last resort.

What are the risk factors for gaucher disease?

People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.

Is there a cure/medications for gaucher disease?

There are no cures for gaucher disease. The treatment goals are to support and maintain the patients quality of life, and medicate as needed per symptom.

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