Gaucher Disease

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What is Gaucher Disease?

Gaucher disease (GD) is an inherited genetic disorder that leads to the build up of fatty deposits in multiple organs within the body, including the spleen, liver, bone marrow and, rarely, the brain.

There are three subtypes of Gaucher disease:

Type 1 Gaucher disease is the most common form, and is the least serious.
Type 2 Gaucher disease is rare, and fatal in the early stages of life.
Type 3 Gaucher disease is an intermediate form between types 1 and 2.

Type 1 Gaucher disease is also known as non-neuronopathic GD, whilst type 2 and type 3 Gaucher disease are commonly classified as neuronopathic GD. Non-neuronopathic GD (type 1 GD) can be acute or subacute. Neuronopathic GD can be subclassified on the basis of central nervous system involvement.

Who gets Gaucher Disease?

The estimated wordwide prevalence of Gaucher disease is 1 per 40,000 to 1 per 75,000 births. In Australia, the prevalence is estimated at 1 in 57,000 live births.

Type 1 Gaucher disease makes up approximately 90% of cases of Gaucher disease in Australia, and has an increased prevalence amongst Ashkenazi Jewish populations.

In contrast, types 2 and 3 are rare and affect only 1 in 100,000 to 1 in 150,000 births.

Predisposing Factors

Gaucher disease is a genetically inherited autosomal recessive disorder. To pass it on to a child, both parents need to be either affected by Gaucher disease or by asymptomatic carriers of the disease.

Gaucher disease is known to have a higher prevalence amongst certain cultural and religious groups, including Ashkenazi Jews, and a number of non-Jewish European populations, including Northern Sweden.

Progression

The progression of Gaucher disease is heavily dependent upon the subtype of the disease that an individual inherits, as well as the age of onset of the disease.

Type 1 Gaucher disease

In general terms, type 1 Gaucher disease appears in adulthood and has a slow and indolent progression. Many individuals are able to live a full life using only symptomatic relief for their symptoms. However, if type 1 Gaucher disease manifests early in life, progression of the disease tends to be more abrupt, and more extensive treatment is usually required.

Type 2 Gaucher disease

Type 2 Gaucher disease usually manifests before 2 years of age and is universally fatal within 2 years.

Type 3 Gaucher disease

Type 3 Gaucher disease has the most varied course and outcomes, with a life expectancy of 20–40 years. In terms of symptoms and progression, it lies in between type 1 and type 2 Gaucher disease. It has an earlier onset and a more pronounced progression than type 1.

Three subtypes of type 3 Gaucher disease have been classified:

Type 3a: Found in Northern Sweden, typically showing symptoms of early dementia.
Type 3b: Predominantly bone, liver and spleen involvement with some neurological symptoms.
Type 3c: Rare, with cardiovascular and neurological symptoms.

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