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Gaucher Disease
Sunday, 04 November 2007
Thursday, 04 September 2008


Gaucher disease is a rare inherited metabolic disorder in which harmful fatty substances accumulate in the liver, spleen, lungs, and bones. This may result in enlarged spleen and liver, anemia and bruising, and bone fractures and deformities. Of the three major types of Gaucher disease, Type 1 does not cause neurological abnormalities, while Types 2 and 3 may have varying degrees of brain involvement.


There are three forms of Gaucher disease based on the age of onset and brain involvement:

  • - Type 1: adult chronic nonneuronopathic form;
  • - Type 2: acute neuronopathic or infantile cerebral form; and
  • - Type 3: chronic or juvenile neuronopathic form.

All three forms of Gaucher disease affect people of all ethnicities. Type 1 is the most common type and typically occurs in adults, especially in Eastern or Central European (Ashkenazi) Jewish ancestry, but may also occur in children. Over 95% of Gaucher disease cases are caused by Type 1. The number of people with Type 1 disease is 1 per 855 people in the Ashkenazi Jewish population. Gaucher disease is rare in the non-Jewish population, with an estimated frequency of 1 per 40,000 people. Types 2 and 3 are rarer and more damaging than Type 1. Type 2 is very severe and occurs in infants, with symptoms developing before 3 months of age. Type 3 can occur anytime during childhood, and is more prevalent in the Swedish population. Type 3 tends to be chronic and progresses slower than Type 2 with only mild brain involvement. Gaucher disease affects males and females equally.

Gaucher disease is a familial autosomal recessive disorder, which means that it is inheritable and the child needs to have a broken copy of the gene from each parent to have the disease.

Signs and Symptoms

Gaucher disease usually affects the liver, spleen, lungs and bones. In addition to these symptoms, Types 2 and 3 are unique in that they involve the brain and the central nervous system.

A person with Gaucher disease may have the following symptoms:

1. Easy bruising due to low numbers of platelets (blood cells responsible for clotting after an injury);

2. Chronic fatigue due to anemia (low numbers of red blood cells);

3. Frequent illnesses due to abnormal immune system;

4. Bone pain and fractures due to thinning of the bone (osteopenia). Patients may develop bone deformity, and their bones can become abnormally dense, while still being more fragile than usual (osteosclerosis).

5. Decreased growth.

6. Enlarged organs (organomegaly), usually the spleen or liver.

7. In Types 2 and 3, there are problems with the brain and central nervous system. This may result in abnormal mental development, seizures, problems with walking and swallowing, and abnormal eye movements and breathing.

Possible Causes

In Gaucher disease, cells in the body lack a protein called glucocerebrosidase (also called acid beta-glucosidase or glucosylceramidase) that works as an enzyme to break down fats, or lipids. Because lipids are usually degraded in lysosomes, Gaucher disease is also known as a "lysosomal storage disorder." The accumulation of fatty substances causes cells to have an abnormal, wrinkly appearance. These substances can build up in the brain and other organs such as the spleen, liver, and bone marrow.


There are several ways to diagnose Gaucher disease. The diagnosis can be made through a simple blood test to see whether the enzyme level of glucocerebrosidase is reduced. The diagnosis can also be confirmed by mutation analysis.  Because the gene for the disease is known, parents can be tested to see if they are likely to pass on the gene to their children. Gaucher disease can be detected prenatally with amniocentesis (taking some fluid from the sac surrounding the fetus) or chorionic villus sampling (taking a swab of tissue from the placenta).


Depending on the specific symptoms a child may have, treatment will vary. The goal for managing Gaucher disease is to minimize future clinical complications. Treatment often involves blood transfusions to treat anemia, partial or total removal of the spleen, and pain medication to relieve bone pain. Many children eventually will need joint surgery or replacements, and all patients should be seen by orthopedists (bone specialists). Bone marrow transplantation may be considered in patients with severe forms of the disease, and is a curative but difficult procedure. A new form of treatment, enzyme replacement therapy (ERT), may also be used. ERT is most successful in patients with Type 1 disease, but it has limited efficacy in improving the neurological symptoms involved in Types 2 and 3. These enzyme replacements are given through the vein, typically once every other week in high doses or 1-3 times each week in lower doses.

Patients with the diagnosis of Gaucher disease should have periodic tests to track its progression. These may include tests such as:

  • - Blood work to monitor anemia, immunity, and liver functions;
  • - Dual energy X-Ray absorptiometry (DEXA), which uses low-level X-Rays to measure bone density;
  • - Abdominal ultrasound and magnetic resonance imaging (MRI) scan, which uses magnetic fields and radio waves to create images, to see whether your child has an enlarged spleen or liver;
  • - Skeletal X-rays films to monitor bone deformities and fractures.


It is important to realize that there is a wide range of severity in Gaucher disease, even in people in the same family. It is difficult to predict how an individual child will do, though knowing the specific gene mutation may help predict a child's outcome. In Type 1, enzyme replacement therapy can slow or even reverse symptoms. Children treated with enzyme therapy often experience a growth spurt and weight gain with improvement in skeletal abnormalities. It is unclear whether this therapy is effective for the neurological problems of Gaucher disease. Type 2 Gaucher disease is the most severe type, and these children generally do not live beyond the age of 2 years old from neurological and respiratory complications. Additional research is needed to develop effective therapies for children with this form of the disease.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


The National Institute of Neurological Disorders and Stroke

A great website with information about the disease as well as links to other informational sites and ongoing research.

Children's Gaucher Research Fund

A foundation dedicated to raising money for research to find a cure for the disease. There is a lot of information about ongoing research on this website.

National Gaucher Foundation

An important website with information about the disease, support groups for families and links to other web-based resources.

National Tay-Sachs and Allied Disease Association

A nice website with details about specific enzyme treatment as well as prenatal diagnosis of the disease.

Google Search for Gaucher Disease

References and Sources