Gaucher Disease

Australia


Gaucher disease is a rare genetic disease whose most visible symptom is a swollen belly due to enlarged spleen and liver. People with Gaucher disease do not have enough of the glucocerebrosidase enzyme to break down fatty substances in their cells. Build-up of these fatty substances causes damage throughout the body.

About Gaucher Disease

Gaucher (pronounced go-shay) disease is an inherited genetic condition that causes fatty deposits to build up in certain organs and bones. It can cause a wide variety of symptoms. Gaucher disease affects less than 10,000 people worldwide, and symptoms can occur at any age.1

Gaucher Cells

Our bodies contain thousands of active substances called enzymes. In healthy people, the enzyme glucocerebrosidase (pronounced gloo-ko-ser-e-bro-sy-daze) helps the body to break down a certain type of fat molecule (glucocerebroside). People with Gaucher disease do not have enough of this enzyme. As a result, cells fill up with the undigested fat. These cells are referred to as Gaucher cells.

Major Signs and Symptoms

Gaucher cells typically build up in different parts of the body, primarily the liver, spleen and bone marrow. Accumulation of Gaucher cells may cause spleen and liver enlargement, anaemia, and a number of other signs and symptoms. In rare cases, the brain and nervous system are affected.

Three Types of Gaucher Disease

 Experts have identified three different types of Gaucher disease:

  • Type 1 (non-neuronopathic) - The most common form, Type 1 affects 1 in 40,000 to 60,000 individuals in the general population. Type 1 does not affect the brain or nervous system. Some patients with Type 1 Gaucher disease have no symptoms, while others develop serious symptoms that can be life threatening.
  • Type 2 (acute neuronopathic) - Type 2 Gaucher disease is more rare, affecting fewer than 1 in 100,000. However, people with Type 2 generally have more severe effects than Type 1. Children develop signs and symptoms of Type 2 Gaucher disease within the first year of life, and may suffer major neurological problems as well as other symptoms. Many do not live past age two.
  • Type 3 (chronic neuronopathic) - Type 3 is also rare and affects fewer than 1 in 100,000 people. This form may also cause neurological signs and symptoms, but they are less severe than in Type 2 Gaucher disease. Signs and symptoms appear in early to late childhood, and patients with Type 3 Gaucher disease live well into adulthood.

Who Gets Gaucher Disease?

Gaucher disease is inherited, or caused by genes passed down through an individual’s parents.

Gaucher disease is not gender specific and its signs and symptoms may appear in affected individuals at any age, although Types 2 and 3 are most commonly diagnosed in childhood. Although individuals from any ethnic or racial background may develop Gaucher disease, Type 1 Gaucher disease is most common among Jewish people of Ashkenazi (Eastern European) descent. Among this group, 1 in 800 people has Gaucher disease. 2

Connie, Australia Gaucher patient

Additional Information

To learn more about about Gaucher disease contact your doctor or other healthcare professional or the following patient associations:

The Gaucher Association of Australia
PO Box 983
Sunbury Victoria 3429
Phone: (03) 9740 7203

Or visit the following websites:

 

References
  1. Grabowski AG, Phenotype, diagnosis and treatment of Gaucher’s Disease, Lancet, 2008; 372:1263-71.
  2. Cox TM, Gaucher disease: Clinical profile and therapeutic developments,
    Biologics 2010; 4: 299-313.
Last Updated: 12/12/2014
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