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Information about Gaucher's disease, a rare,genetic disorder with it's own unique symptoms.

As an autosomal recessive inherited genetic disease, Gaucher’s disease affects the metabolism where a type of lipid (or fat) called glucocerebroside can’t be properly broken down. Normally, the human body produces an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside, which is a portion of a cell membrane. The results are specific lipid build up in the spleen, bone marrow, liver and nervous system and it interferes with normal functioning.

Type Of Gaucher’s Disease

There are three different types of this disease and each has its own unique range of symptoms. Type 1 is the most common form and it doesn’t affect the nervous system and the onset can occur early in life or in adulthood. Many people with Type 1 have symptoms so mild they never experience any issues. Types 2 and 3 do occur in the nervous system. Type 2 results in medical problems beginning in infancy, while Type 3 progresses more slowly. There are also rarer types harder to categorize within these three types.

What Are The Symptoms?

The symptoms of the disease will vary among those who have it. The most common clinical symptoms include:

  • Bone pain, fractures and disease
  • A low red blood cell count (anemia)
  • An enlargement of the liver and spleen
  • Easy bruising that’s caused by low platelet levels
  • Heart, respiratory and nervous system issues

The symptoms of Type 2 and Type 3 include the same ones featured with Type 1, but there are other issues involving the eyes, seizures and brain damage. Those diagnosed with Gaucher’s Type 2 normally will not survive past their second birthday. There are some with Type 2 that will die during infancy, often with severe skin issues and fluid accumulation. People with Type 3 will generally develop symptoms before the age of 2, but often the disease progresses more slowly and the extent of brain development is unpredictable.

How Is It Diagnosed?

Diagnosing Gaucher’s disease is based upon clinical symptoms and lab tests. The disease is suspected in people who have low red blood cell counts, easy bleeding, bruising, nervous system problems, bone issues, and an enlargement of liver and spleen.

A doctor will order a blood test to measure the level of the enzyme glucocerebrosidase. People who have the disease will have extremely low levels of this enzyme. A second type of laboratory tests will involve a DNA sample analysis of the GBA gene for the most common type of mutations. Both enzyme and DNA tests can be done on babies before birth. However, a bone marrow test might not be enough to establish a definitive diagnosis.

When a specific genetic mutation causing Gaucher’s is known in a family, a DNA test can be done to accurately identify who the carriers are. However, it is often impossible to predict a person’s clinic course based entirely on DNA testing.

How Is Gaucher’s Disease Inherited?

Being an autosomal recessive genetic disorder, means both parents of a child must be carriers of the gene in order for Gaucher’s disease to be passed on. Although it can affect anybody, it is most prevalent in those of Jewish descent. It is the most common of all inherited Jewish rare genetic disorders, approximately 1 in 450 people have Gaucher’s and 1 in 10 are carriers of the gene.

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