Gaucher Disease


Gaucher disease is a rare genetic disease whose most visible symptom is a swollen belly due to enlarged spleen and liver. People with Gaucher disease do not have enough of the glucocerebrosidase enzyme to break down fatty substances in their cells. Build-up of these fatty substances causes damage throughout the body.

About Gaucher Disease

Gaucher disease is a chronic, progressive, inherited genetic disorder. People with Gaucher disease lack sufficient levels of a particular enzyme. As a result of this enzyme deficiency, a fatty material, or lipid, accumulates in the body. Lipid accumulation in organs and bones can cause mild to severe symptoms that can appear at any time throughout life, from infancy to adulthood.

It is estimated that approximately 1 in 40,000 to 60,000 people in the general population have Gaucher disease. Among Jews of Ashkenazi (Eastern European) descent, the incidence is higher: up to 1 in 850 people. The higher frequency of Gaucher disease among this population has led to the misconception that Gaucher disease is a "Jewish genetic disease,” but in fact, individuals of any ethnic or racial background may be affected.

Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of rare genetic conditions caused by enzyme deficiencies. In a lysosomal storage disorder, certain structures in cells, called lysosomes, have trouble breaking down specific complex fatty molecules. As a result, the lysosomes fill up with these undigested molecules, impairing the cell’s ability to function properly.

Gaucher disease is the most common condition in a family of diseases known as lysosomal storage disorders. The enzyme that is not working well in Gaucher disease is called glucocerebrosidase (pronounced gloo-ko-ser-e-bro-si-dase). This enzyme helps the body break down glucocerebroside (gloo-ko-ser-e-bro-side), a fatty substance stored inside the lysosome, or tiny sac-like structure, of certain cells. With insufficient enzyme activity, glucocerebroside accumulates inside the lysosome and causes the cell to become bloated

Clinical symptoms of Gaucher disease occur when lipid-engorged Gaucher cells can not function as normal cells.

Types of Gaucher

Gaucher disease is divided into two major types—neuronopathic and non-neuronopathic disease—based on the particular symptoms of the disease. In non-neuronopathic disease most organs and tissues can be involved, but not the brain. In neuronopathic disease the brain is also involved.



Type 1

Type 2

Type 3


General Population:
1 in 40,000-60,000

Ashkenazi Jews:
1 in 850

<1 in
<1 in

CNS Involvement

Moderate to Severe



First year of life


Symptom Onset

Any age

Non-neuronopathic disease — Type 1 Gaucher disease

Type 1 Gaucher disease is the most common form of the disease and does not involve the central nervous system; therefore it is also called non-neuronopathic. Although Type 1 Gaucher disease is sometimes referred to as ‘adult Gaucher disease’, it can affect individuals of all ages, and in hindsight most Type 1 patients acknowledge that their first symptoms started before adulthood.

Type 1 Gaucher disease has a particularly wide variation in clinical signs, symptoms and disease course. In some cases, symptoms may begin in childhood and rapidly worsen over time. In other cases, the first symptoms may only be noticed well into adulthood. There are even cases of people who are shown to have a glucocerebrosidase gene defect, but who do not show any symptoms. In general, the earlier in life the first symptoms appear, the more likely it is that the disease will be severe and will progress rapidly if left untreated.

Perhaps the most common sign of Type 1 Gaucher disease is an enlargement of the spleen. Spleen enlargement is often the initial finding and may be first recognized when the child is young. Skeletal symptoms of bone involvement can occur at any time in life, both in children and in the elderly. Skeletal abnormalities are also very common and they are present in the majority of patients at the time of diagnosis.

Neuronopathic Gaucher disease

If brain function is affected in Gaucher disease, it can appear early in life and progress rapidly, as with acute neuronopathic or Type 2 Gaucher disease; or it can appear more gradually and slowly worsen over time, as with Type 3 or chronic neuronopathic Gaucher disease.

Type 2 Gaucher disease

Type 2 Gaucher disease is a very rare, rapidly progressive form of the disorder that affects the brain as well as the organs affected by Type 1 Gaucher disease. Formerly called ‘infantile Gaucher disease’, Type 2 is characterized by severe neurological involvement in the first year of life. Fewer than 1 in 100,000 newborns have Type 2 disease. This form of Gaucher disease does not appear to be concentrated within any particular ethnic group. Infants with Type 2 disease typically appear normal during the first few months of life before developing neurological signs and many of the signs and symptoms associated with Type 1. An afflicted child usually does not live past the age of 2 years, due to the severe involvement of the brain.

Type 3 Gaucher disease

Formerly called ‘juvenile Gaucher disease’, Type 3 is characterized by a slowly progressive brain involvement, in addition to severe disease of the other organs of the body. Type 3 Gaucher disease is also very rare. While not limited to any particular ethnic group, a concentrated number of cases have been reported in Sweden, and a higher number of cases than in the general population have been reported in Spain and Japan.

The signs and symptoms of Type 3 Gaucher disease appear in early childhood. Other than the central nervous system involvement, Type 3 Gaucher disease signs and symptoms are the same as in Type 1. If the brain dysfunction is still very subtle at the time the Gaucher diagnosis is made, children with Type 3 disease may appear to have non-neuronopathic Type 1 Gaucher disease. A clear diagnosis may be made only after neuronopatic signs and symptoms progress and are confirmed with clinical testing. Type 3 individuals who reach adolescence may survive into their 40s.

Signs & Symptoms

The signs and symptoms of Gaucher disease are a result of the progressive accumulation of Gaucher cells in the body. Gaucher cells typically accumulate in the spleen, liver, and bone marrow. However, they may also collect in other tissues, including the lymphatic system, lungs, skin, eyes, kidney, heart, and in rare instances, the nervous system.

Symptoms can appear at any age, but usually are first noticed in childhood or adolescence. They include:

  • easy bleeding and bruising
  • excessive fatigue
  • anemia
  • weak bones fracturing too easily
  • bone and joint pain
  • enlargement of the belly through increase in the volume of spleen and liver.

The type and severity of symptoms can vary widely among individuals. Some individuals do not experience any symptoms until they are elderly, while others may develop life-threatening conditions during childhood. Gaucher disease is progressive and, if left untreated, will usually become worse over time.

Signs of Gaucher disease may include abnormal blood tests such as too few red blood cells and/or platelets, or abnormalities on X-ray pictures such as bone deformity.

Diagnosis and Testing

Because some of the signs and symptoms associated with Gaucher disease are similar to those of other more common disorders, it may take months or even years for people with Gaucher disease to get an accurate diagnosis. For example, joint pain may be attributed to arthritis, or bone pain in the upper legs may be attributed to ‘growing pains.’ Low red blood cell or platelet count may at first be diagnosed as a blood disorder or lead to a work up for leukemia or lymphoma. Also, since the initial signs and symptoms may seem rather harmless, patients and physicians may not suspect a progressive disease for a long time.

Accurate and definitive diagnosis of Gaucher disease can be made with a simple blood test (or assay) that measures glucocerebrosidase enzyme activity. The blood sample can be taken in the physician’s office, but may need to be sent to a specialized medical center for analysis. In healthy individuals, the test shows white blood cells that contain normal enzyme activity; in individuals with Gaucher disease, enzyme activity is much lower.

Alternatively, the physician may obtain a skin sample, as certain skin cells called fibroblasts can be used to measure glucocerebrosidase activity levels.

A bone marrow biopsy is often taken when a physician suspects a blood cancer, such as leukemia. This bone marrow sample may be used to check for Gaucher cells. The cells are then viewed under a microscope. However, the definitive testing method for Gaucher disease continues to be a simple blood test (or enzyme assay) that measures enzyme activity.

Other tests

  • A physician may also recommend the following tests to aid in diagnosis and to establish the severity and progression of the disease.
  • Blood tests that can show a variety of abnormalities such as low red blood cell or low platelet counts, signs of chronic inflammation, or of some liver dysfunction
  • X-rays, magnetic resonance imaging (MRI), or computerized tomography (CT or "CAT" scans), to show abnormalities in bone
  • MRI or CT scan to measure the liver and spleen
  • Quality of life assessments (questions on how you feel and function in your everyday life)
  • X-rays and/or electrocardiogram (ECG) or other tests to assess whether the lungs and/or heart are involved
  • Special tests to evaluate possible effects on the brain or peripheral nerves

Who should be tested?

Gaucher disease testing should be considered for anyone with Gaucher symptoms, especially delayed growth, general weakness, enlarged spleen or liver, anemia, bone pain, or ‘spontaneous’ fractures.

Additionally, close family members of an individual with Gaucher disease should be considered for testing in order to determine if they are carriers, or individuals who could pass on Gaucher disease.

Treatment Options

In the past, patient care and therapy for Type 1 Gaucher disease was only aimed at managing or relieving symptoms. Treatments included various pain reduction therapies, blood transfusions, orthopedic surgery for bones and joints, and possible splenectomy (removal of spleen).

Although many of these measures still have a place in the management of Gaucher disease, the focus of disease management shifted in the early 1990s with the advent of disease-specific therapy. There are two major approaches to disease-specific therapies for Gaucher disease: enzyme replacement therapy and substrate reduction therapy.

These therapeutic approaches are also used in other lysosomal storage diseases and the descriptions below are intended to give you a general overview of these approaches. You should discuss any specific treatment option with your physician.

Enzyme replacement therapy (ERT)

The goal of ERT is to provide the appropriate amount of enzyme to allow excess material to be processed. Thus, enzyme replacement therapy works by supplementing or replacing the Gaucher patient’s missing or deficient enzyme. With ERT, smaller components of excess material can be removed from cells by natural processes. However, ERT does not currently address conditions or symptoms related to the central nervous system of Types 2 and 3 Gaucher disease.

Substrate Reduction Therapy (SRT)

The goal of SRT is to minimize the amount of production and accumulation of excess material, or a particular substrate (glucosylceramide or GL1), within cells. Thus, substrate reduction therapy (SRT) works by reducing the amount of GL1 that a cell makes. This means that even though patients are deficient in an enzyme that breaks down GL1, with SRT, the enzyme they do have is better able to prevent GL1 from accumulating inside cells.

Last Updated: 12/3/2015

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