Gaucher (go-shay) Disease


Gaucher disease is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD), with an incidence of about one in 20,000 live births. Despite the fact that Gaucher disease consists of a phenotype with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. The subtypes are types 1, 2 and 3.

Gaucher disease results from a specific enzyme deficiency in the body, caused by a genetic mutation received from both parents. The disease course is quite variable, ranging from no outward symptoms to severe disability and death. Carrier status can be detected through blood or saliva to identify potential carriers of the Gaucher gene. Gaucher disease can be diagnosed early through a blood test.

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The most common symptoms of Gaucher disease are enlargement of the liver and spleen, anemia, nose bleeds, reduced platelets (resulting in easy bruising and long clotting times), bone pain or "bone crises", bone deterioration, bone infarctions often leading to damage to the shoulder or hip joints, and a generalized demineralization of the bones (osteoporosis). The weakening of the bones can then lead to spontaneous fractures. The course of the disease is quite variable, ranging from no overt symptoms to skeletal problems, liver or spleen damage, bleeding, or other problems.

The symptoms described above, to a greater or lesser degree, also affect individuals with types 2 and 3, but the neurological involvement is what separates types 2 and 3 from type 1; the most common form of Gaucher disease.


Gaucher patients can receive enzyme replacement therapy via infusions. Enzyme replacement therapy has worked well to control the systemic (non-central nervous system) complications most commonly found in type 1 patients. However, the replacement enzyme has difficulty crossing the "blood brain" barrier, therefore, in the type 2 and type 3 form of Gaucher disease, it has had limited affect on the central nervous system, or brain involvement.

Gaucher I

Type 1 Gaucher disease is the most common form of this condition. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood
Treatment available

Gaucher II

Onset for Guacher type 2 occurs within the first 3 to 6 months of life and it is fatal; causing death before 2 years of age. Babies with Type 2 will not live long enough to develop some symptoms experienced by those with Type 1 or 3.
Currently No treatment

Gaucher III

Gaucher disease type 3 is typically described as having somewhat later onset of visceral and central nervous system involvement, and a more protracted course with survival potentially into the 2nd to 4th decade.
Currently No treatment

Along with enzyme replacement therapy (ERT) via infusions there is substrate reduction therapy (SRT) that can be given orally. SRT has worked well to control the systemic complications most commonly found in a subset of type 1 patients. However, substrate reduction therapy is not for everyone and has been showen to show side effects not attributed with ERT