Gaucher disease is a series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body. The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form before or just after birth to a form so mild that it may not be diagnosed until old age. All 5 types of Gaucher disease are inherited in an autosomal recessive manner.
Gaucher disease, type 1
The most common and best known form of Gaucher disease. It affects the spleen, liver, and bone marrow and spares the brain. The symptoms include enlargement of the spleen (usually the first sign), anemia, low blood platelets, increased skin pigmentation, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. This type of Gaucher disease is the most common genetic disease among Jews in North America.
Gaucher disease, types 2-5
A series of disease due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease. Types 2 and 3 Gaucher disease are characterized by primary neurologic disease including profound involvement of the brain. The onset of symptoms is before age 2 in both types 2 and 3 with death by age 2 to 4 in type 2 and a more slowly progressive course with survival into the third or fourth decade in type 3. Types 2 and 3 are collectively known as infantile cerebral Gaucher disease. Type 4 Gaucher disease is lethal in the perinatal period and is marked by collodion skin and hydrops fetalis. Type 5 is the cardiovascular form of Gaucher disease with calcification of the aortic and mitral valves, mild spleen enlargement, and eye involvement