Gaucher's disease

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at March 11, 2016
StartGaucher's disease

Gaucher's disease occurs when fatty substances begin to build up within certain organs of the body, often times the liver and spleen. This buildup of fat causes the organs to become larger than they should, affecting their function.


Definition & Facts

For those with Gaucher's disease, fatty substances can begin to build up in bone tissue within the body. This can then lead to an increased risk of fractures because the bones will be weakened. If the fatty buildup begins to affect the bone marrow, the ability of blood to clot can be affected.

Symptoms & Complaints

The symptoms and signs that are seen with Gaucher's disease can be very different from person to person. Even two identical twins with the disease may have symptoms that are completely different from each other. With some people there are no symptoms at all.

For those that do have symptoms, the severity of the symptoms will differ as well. Some cases will have symptoms that are more severe than others. The symptoms that are most commonly seen are:

  • Stomach pain - When the organs affected by Gaucher's disease become enlarged, there can be some pain in the stomach.
  • Abnormalities of the skeleton - Because of the fractures that can occur, the blood supply that goes to the bones can be interfered with. This can lead to portions of the bone dying causing abnormalities in the skeleton.
  • Blood disease- When there is a decrease in red blood cells that are healthy, which is called anemia, the person will feel severe fatigue. Gaucher's can also affect the blood's ability to clot normally, which can lead to nosebleeds and easy bruising.

In rare cases, the disease can have an effect on the brain. This can cause seizures, abnormal eye movement, difficulty swallowing, and muscle rigidity. A very rare Gaucher's disease subtype will begin in an infant and most often results in death by the time the child is two years old.


Gaucher's disease is caused by a deficiency in the enzyme, glucocerebrosidase which breaks down glucocerebroside - the fat that accumulates in various organs. It is a hereditary disease so it is passed down from the parents to their children. A child will only inherit the disease if both of their parents carry the genetic mutation. Those that are at greatest risk are Jewish people of Central and Eastern European descent (Ashkenazi).

Diagnosis & Tests

When a doctor does a physical examination of children or adults, he or she will press on the stomach to check if the liver and spleen feel like they are of normal size. Doctors may also recommend that imaging tests, lab tests, and genetic testing be done.

The lab tests they will run will start with a blood test. The blood tests will be used to check the enzyme levels that are connected with Gaucher's disease. A genetic analysis may also be completed with the blood test to determine whether or not the person has the disease.

Once someone is diagnosed as having Gaucher's disease, the doctor will want to have imaging tests done periodically in order to track how the disease is progressing. The imaging tests that may be used include:

  • A dual-energy X-ray absorptiometry or DXA. Low-level X-rays are used with this test in order to measure the bone density.
  • MRIs. An MRI uses a strong magnetic field and radio waves in order to look at the liver and spleen to see if it is enlarged. It will also allow the doctor to determine if the bone marrow has been affected by the disease.

Genetic testing may be used by couples planning to have children in order to determine if there is a family history of Gaucher's disease or if either person believes he or she may be of Ashkenazi Jewish descent. There are some cases in which prenatal screening may be recommended to determine if the fetus may be at risk.

Treatment & Therapy

Gaucher's disease is not something that can be cured, but there are different treatments that can be used in order to improve quality of life, help control symptoms, and prevent damage that is irreversible. The first type of treatment that may be used is medication. The medications that are used will help to:

  • Replace enzymes. When someone has Gaucher's disease, they are missing enzymes; these enzymes will then be replaced with artificial enzymes. The replacement of enzymes is given through a vein, usually twice a week in high doses.
  • Prevent production of the fatty substances. Eliglustat (Cerdelga®) and miglustat (Zavesca®) are both oral medications that are used in order to try and prevent the fatty substances from forming and building up.
  • Treat weakened bones. Medications are used to help build up the bones that are weakened by the disease.

If the symptoms are severe, the doctor may suggest two types of procedures. The first is a bone marrow transplant. When the bone marrow becomes infected with the fatty buildup, it is not able to produce blood as it should.

With the bone marrow transplant, the damaged cells will be removed from the bone and replaced with healthy cells. This can help to reverse the symptoms of the disease. Spleen removal is another procedure that may be done, but is often left as a last resort in treatment.

Prevention & Prophylaxis

Gaucher's disease is a hereditary disease, so there is not much that can be done in order to prevent it. If a person has Gaucher's disease, he or she was born with it and nothing could stop it. With two parents having the disease, there is a great risk of the baby being born with and eventually having symptoms of Gaucher's disease.