DefinitionGaucher disease is a rare disease. It causes the abnormal storage of fatty substances. These fatty substances build up in the bones, liver, lungs, spleen and occasionally the brain. There are 3 types of Gaucher disease:
- Type I—most common, found widely in people of Ashkenazi Jewish descent
- Type II—rare, rapidly progressive form
- Type III—rare, most cases found in Japan and Scandinavia
CausesGaucher disease is a genetic disease. A faulty gene limits the amount of an enzyme called glucocerebrosidase. The enzyme normally breaks down a fat called glucocerebroside. There is not enough of the enzyme to break down all of this specific fat. As a result, it builds up in the spleen, liver, lungs, bones, and brain.
Risk FactorsA family history of Gaucher is the only known factor that increases the chance of Gaucher.
SymptomsSymptoms vary across the three types of Gaucher disease. In general, the later the onset of symptoms, the less likely that symptoms will be severe. Type I symptoms may include:
- Easy bruising
- Slow or stunted growth in children
- Intestinal problems like abdominal swelling
- Trouble breathing
- Vision problems
- Developmental delays
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