Disease Classification

Gaucher disease is divided into two major types—neuronopathic and non-neuronopathic disease—based on the particular symptoms of the disease. In non-neuronopathic disease most organs and tissues can be involved, but not the brain. In neuronopathic disease the brain is also involved. [1]

Non-neuronopathic

Neuronopathic

Type

Type 1

Type 2

Type 3

Prevalence

General Population:
1 in 40,000-60,000

Ashkenazi Jews:
1 in 850

<1 in
100,000

<1 in
100,000

CNS involvement

None

Severe

Moderate to Severe

Symptom Onset

Any age

First year of life

Childhood

Non-neuronopathic disease - Type 1 Gaucher disease

Type 1 Gaucher disease is the most common form of the disease and does not involve the central nervous system; therefore, it is also called non-neuronopathic. [1] Although Type 1 Gaucher disease is sometimes referred to as ‘adult Gaucher disease’, it can affect individuals of all ages, [2] and in hindsight, most Type 1 patients acknowledge that their first symptoms started before adulthood. [3]

Type 1 Gaucher disease has a particularly wide variation in clinical signs, symptoms and disease course. In some cases, the symptoms may begin in childhood and rapidly worsen over time. In other cases, the first symptoms may only be noticed well into adulthood. There are even cases of people who are shown to have a glucocerebrosidase gene defect, but who do not show any symptoms. In general, the earlier in life the first symptoms appear, the more likely it is that the disease will be severe and will progress rapidly if left untreated.[1] [3]

Perhaps the most common sign of Type 1 Gaucher disease is an enlargement of the spleen. Spleen enlargement is often the initial finding and may be first recognized when a child is young.[1] [2] [3] Skeletal symptoms of bone involvement can occur at any time in life, both in children and the elderly.[1] Skeletal abnormalities are also very common and they are present in the majority of patients at the time of diagnosis. [3]

Neuronopathic Gaucher disease

If brain function is affected in Gaucher disease, it can appear early in life and progress rapidly as with acute neuronopathic or Type 2 Gaucher disease; or it can appear more gradually and worsen over time, as with Type 3 or chronic neuronopathic Gaucher disease.

Type 2 Gaucher disease[1] [3]

Type 2 Gaucher disease is a very rare, rapidly progressive form of the disorder that affects the brain as well as the organs affected by Type 1 Gaucher disease. Formerly called ‘infantile Gaucher disease’, Type 2 is characterized by severe neurological involvement in the first year of life. Fewer than 1 in 100,000 newborns have Type 2 disease. This form of Gaucher disease does not appear to be concentrated within any particular ethnic group. Infants with Type 2 disease typically appear normal during the first few months of life before developing neurological signs and many of the symptoms associated with Type 1. An afflicted child usually does not live past the age of 2 years, due to the severe involvement of the brain.

Type 3 Gaucher disease[1] [3]

Formerly called ‘juvenile Gaucher disease’, Type 3 is characterized by a slowly progressive brain involvement, in addition to severe disease of the other organs typically affected by Gaucher disease. Type 3 Gaucher disease is also very rare. While not limited to any particular ethnic group, a concentrated number of cases have been reported in Sweden and a higher number of cases have been reported than in the general population in Spain and Japan.

The signs and symptoms of Type 3 Gaucher disease appear in early childhood. Other than central nervous system involvement, Type 3 Gaucher disease symptoms are the same as in Type 1.[1] [3] If the brain dysfunction is still very subtle at the time the Gaucher diagnosis is made, Type 3 children may initially be perceived as suffering from non-neuronopathic Type 1 Gaucher disease. A clear diagnosis may be made only after neuronopathic symptoms progress and are confirmed with clinical testing. Type 3 individuals who reach adolescence may survive into their 40s.[1]

References:

1. Beutler E, Grabowski GA. Gaucher disease. In: Scriver C, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001:3635-3668.

2. Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Bailliere's Clinical Haematology. 1997;10(4): 657-689.

3. Grabowski G. Gaucher disease: Enzymology, genetics, and treatment. In: Harris H, Hirshchorn K, eds. Advances in Human Genetics. New York, NY: Plenum Press; 1993;21: 377-441.

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »