Gaucher's Disease

Gaucher's disease is one of several lysosomal storage disorders that involve an inability to metabolize certain essential compounds in the body. This genetic disorder causes a lipid composed of a ceramide and glucose to accumulate in the tissues, enlarging both the liver and the spleen. It also causes brown spots on the skin, skeletal lesions and raised, yellowish areas near the inner and outer margins of the cornea. 

Although uncommon, Gaucher's disease is the lipidosis seen most often by physicians.

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Symptoms

There are three major forms of Gaucher's disease:

  • Type I, the adult chronic nonneuronopathic form, is the most common and is manifested primarily by an enlarged spleen and bone lesions
  • Type II, the acute infantile neuronopathic form, is associated with an enlarged spleen, severe neurologic abnormalities and death - usually within the first two years of life
  • Type III, which may occur anytime in childhood and combines the features of the adult chronic form with slowly progressive but usually milder neurologic dysfunction. Patients who survive to adolescence may live for many years.

A patient usually experiences an enlarged spleen, but an enlarged liver and lymphadenopathy can also occur. If the bones are involved, the patient may have pain and swelling of the joints. Brown spots on the skin or raised, yellowish spots on the inner and outer edges of the cornea may also be present.

In infants, the disease is more acute. Stiffness of the neck and spasms of the back that cause the head and the lower limbs to bend backward and the trunk to arch forward may occur.

The involvement of the spleen and bone marrow may result in an abnormal lowering of the number of red blood cells, white blood cells and blood platelets. Nosebleeds or other types of blood loss may occur as there are fewer blood platelets. X-rays show flaring of the ends of the long bones and cortical thinning.

 

Causes and Risk Factors

This genetic condition is caused by a metabolic failure to break down a chemical in the body, which leads to the chemical (glucocerebroside) collecting in the tissues. This abnormal storage causes the cells to vary in shape and have one or several eccentrically placed nuclei. These cells are found in the liver, spleen, lymph nodes and bone marrow.

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Diagnosis

The following are ways in which Gaucher's disease is diagnosed:

  • Analysis of cells from bone marrow, the spleen or the liver
  • Demonstrating the lack of glucocerebrosidase activity in cells
  • Prenatally, Gaucher's diseases can be diagnosed by DNA testing
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Treatments

Gaucher's disease may be treated by:

  • Replacing the missing enzyme intravenously in patients to type I disease
  • Removal of the spleen, in cases where the patient is anemic has leucopoenia or low blood platelets. Anemic patients may also need transfusions.
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