Gaucher Disease

Definition

Gaucher 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

Causes

Gaucher 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 Factors

A family history of Gaucher is the only known factor that increases the chance of Gaucher.

Symptoms

Symptoms 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:
  • Fatigue
  • Easy bruising
  • Slow or stunted growth in children
  • Intestinal problems like abdominal swelling
  • Trouble breathing
  • Seizures
  • Vision problems
  • Developmental delays
Spleen
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Types II and III also have additional symptoms.In type II, rigidity and seizures may appear within the first few months of life. Dementia and intellectual disabilities may appear later. This type is usually fatal by the age of three.In type III, the primary symptom is a slowly progressive neurologic disease. This can include seizures and mental retardation. Other symptoms are similar to type I and may appear in early childhood. People with type III Gaucher who survive through adolescence may survive until their 30s or 40s.

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