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Gaucher’s disease

Last reviewed by Dr. Raj MD on January 12th, 2022.

What is Gaucher’s disease?

This is a disease in which a fatty substance accumulates in your cells and other organs such as your liver, lungs, bone marrow, and spleen. It is the most common one of the lysosomal storage diseases (LSD). This disease can happen at any age but it is most commonly found in Jewish people of Central and Eastern descent. Gaucher’s disease affects around one in fifty thousand to one hundred thousand people. Type 2 generally appears in infants and is fatal by two years of age.


There are three types of Gaucher’s disease which are:

Type 1 (non-neuropathic) – this is the most common form and with this type, a person will suffer from an enlarged spleen. They will also bruise easily. This type can lead to more fatigue because of the low number of platelets and anemia. With type 1 there is no damage to your brain. This type accounts for approximately ninety percent of the cases diagnosed. It can happen at any age but the average age is thirty years old. It can happen in approximately one in fifty thousand live births.

Type 2 (acute infantile neuropathic) – with this type you will also find an enlarged spleen, which takes approximately three months to increase in size. This type will also damage your brain to a large extent and is the most severe. This type will develop in a baby within three months of their life and will have extensive brain damage, which will rapidly progress. Type 2 happens in approximately one in one hundred thousand live births.

Type 3(chronic neuropathic) – with this type you will also find an enlarged spleen and enlarged liver. This type may also affect the normal function of your spleen. You may also suffer from seizures with this type. It is rare to have this type. Type 3 will normally begin in childhood or adolescence. It is usually chronic and will progress slower than type 2. Type 3 happens in approximately one in one hundred thousand live births and usually live until their early teen years to adulthood.


The symptoms that a person has with Gaucher’s disease depend on which type you are diagnosed with.

Type 1 symptoms

The symptoms with this type will usually begin early in life or in adulthood.

  • Having skeletal abnormalities such as osteopenia, which is thinning of your bone, bone fractures, and bone pain.
  • Splenomegaly which is enlargement of your spleen or Hepatomegaly which is an enlarged liver. You may have both. Your spleen is normally fifty to two hundred milliliters but when enlarged it can be fifteen hundred to three thousand milliliters. With the enlargement you have the chance of it rupturing.
  • Anemia, which is a decrease in your healthy red blood cells.
  • Excessive fatigue
  • Having a great susceptibility to bruising which may mean you have thrombocytopenia, which is a low number of blood platelets.
  • Pingueculae, which is yellow spots in your eyes.
  • Nosebleeds
  • Puberty that is delayed
  • Severe pain that is associated not only with your bones but also your joints, frequently seen in your knees and hips.
  • Having a yellowish-brown pigmentation of your skin.

Type 2 symptoms

Type 2 may have all or some of the symptoms of type 1 with the addition of these symptoms.

  • Problems with their brain including dementia or mental retardation.
  • Seizures
  • Rigidity in their limbs
  • Eye movement disorders
  • Poor ability to swallow
  • Spasticity

Type 3 symptoms

With the enlargement of your spleen and liver they will vary more in intensity than they do in type 2. With type 3 the brain is also affected but in milder form than in type 2. Type 3 may have all the symptoms of type 1 in addition to these symptoms:

  • Problems with their brain including dementia or mental retardation.
  • Eye movements that are abnormal.
  • Loss of muscle coordination.


It is caused by a defect of the enzyme glucocerbrosidase, which is usually the enzyme that breaks down the lipids called glucocerebrosides. Lipids are fatty substances. When this particular enzyme is scarce this fatty substance cannot be broken down and build up in bone marrow, brain, and other organs such as your spleen and liver. It is a genetic defect and is passed along in an inheritance pattern that is called autosomal recessive. In order for the child to develop Gaucher’s disease both of the parents must be carriers of this genetic mutation. At this time researchers have found more than three hundred genetic mutations that are associated with this disease. There is a twenty-five percent chance of the child developing this disease even if both of the parents are carriers. This is compared to a fifty percent chance of the child not being a carrier. There is also a twenty-five percent that the child will not have the disease nor be a carrier.


If this disease runs in the family or your physician suspects that you have Gaucher’s disease they will usually make the diagnosis by checking to see what the levels of the enzyme glucocerbrosidase. They may also do a genetic analysis. Some of the tests may include:

Enzyme analysis – this is done with a blood test so the physician can measure the levels of the enzyme glucocerebrosidase. If you have Gaucher’s disease your blood tests will show a low level in your bloodstream. If you are a carrier but do not have the disease the enzyme level will fall between the people who are not carriers and the ones that have the disease.

Genetic mutation analysis – this is the test that looks for the four most common genetic mutations that are known to be associated with this disease along with some of the less common mutations. This is not considered a definitive test because it is likely that not all of the genetic mutations that are involved with this disease have been identified. It is used mainly to help classify which type you or the child has.


With type 1 you may have such mild symptoms that you will not need any treatment but for type 2 there is not specific treatment.

Treatment for type 1 and type 3

  • Enzyme replacement therapy – this is when the deficient enzyme is replaced with artificial enzymes through your vein as an outpatient in high doses at fourteen day intervals. The results vary but are more effective in persons with type 1.
  • Bone marrow transplantation – this surgical procedure is usually used for severe cases.
  • Medications – this is the oral medication Zavesca that has been approved to use for people with this disease. It appears to interfere with the production of glucocerebrosides in some people who have type 1.

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