Gaucher disease is one of the many glycosphingolipid disorders (GLSDs). These rare diseases are characterised by an accumulation of fatty substances called glycosphingolipids.
The first clinical description of Gaucher disease was made in 1882 by the French dermatologist Dr Phillippe Gaucher, who described a female patient with massive spleen enlargement, which he mistakenly took to be due to a malignancy.
It is known that the disease he identified, and that is now called Gaucher disease, is an inherited metabolic lysosomal storage disorder in which harmful amounts of glycosphingolipids accumulate.
This accumulation leads to multiple clinical manifestations, typically affecting liver, spleen, blood, bones and CNS.
Gaucher disease has been traditionally classified into three subtypes, depending on the symptoms and the timing of their development.
Type 1 Gaucher disease is the most common form of the disease. The mutation is most frequent in the Ashkenazi Jewish people. Type 1 Gaucher disease is also referred to as the adult or non-neuropathic form of Gaucher disease, in which the brain is not affected. People with type 1 Gaucher disease have an enlarged spleen and liver, anemia and a low platelet count, and may also experience bone pain and bone deterioration. Symptoms can appear at any age.
Type 2 Gaucher disease (infantile or acute neuronopathic) occurs rarely and shows no particular ethnic predisposition. Type 2 is the most severe form of Gaucher disease, with onset within the first 6 months of life, and a maximum life expectancy of about 2 years. Apart from splenic and liver enlargement, infants with type 2 Gaucher disease suffer extensive and progressive brain damage.
Type 3 Gaucher disease is common in the population of the Norbotten region of Sweden. It is also referred as juvenile or chronic neuronopathic Gaucher disease, because the neurological symptoms appear in early to late childhood. The neurological accumulation is often seen initially in children as problems with moving the eyes correctly, learning difficulties at school, or auditory problems, and may eventually lead to difficulty with movement and balance.
Recently, new clinical information have shown that type 1 Gaucher disease patients may also have some degree of neurological signs and symptoms, suggesting a continuum between neurologic and non-neurologic forms of Gaucher disease.