Gaucher Disease is an autosomal recessive disease and the most common Lysosomal Storage Disorder, with an incidence of about 1 in 100,000 live births. It is caused by deficiency of a specific enzyme (glucocerebrosidase) in the body, caused by a genetic mutation received from both parents (autosomal recessive inheritance). This leads to an accumulation of the enzyme's substrate, glucocerebroside, which results in it being stored in the spleen, liver, kidneys, lungs, brain and bone marrow. Each disease course can be variable, ranging from no outward symptoms to severe disability and death.
Symptoms may include:
Persons affected most seriously may also be more susceptible to infection.
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.
Gaucher disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.
Type I, the most common, also called the 'non-neuropathic' type is characterised by the problems listed above. This is often called the adult form, although the cause is present from the time of conception. The median age at diagnosis is 28 years of age, and life expectancy is mildly decreased. In most cases there are no essential neurological symptoms.
Type II, also called acute neuronopathic Gaucher disease, is very rare and characterised by rapidly progressive neurological problems in babies. Formerly called infantile Gaucher disease, Type 2 is described by severe neurological involvement in the first year of life. Fewer than 1 in 100,000 newborns have Type 2 disease. Prognosis is dismal: An afflicted child usually does not live past the age of 2 years, due to the severe involvement of the nervous system.
Type III, also called neuronopathic Gaucher disease is also very rare but differing from Type II, it is characterized by slowly progressive neurologic symptoms. The signs and symptoms of Type 3 Gaucher disease appear later in childhood than the symptoms of Type 2 Gaucher Disease.
Philippe Charles Ernest Gaucher (July 26, 1854 - January 25, 1918) was a French dermatologist born in the department of Nièvre.
He received his medical doctorate in 1882, and soon after headed a medical clinic at Necker Hospital. During the subsequent years he was an instructor at several hospital clinics in Paris. He taught classes on pathological anatomy, bacteriology and histology, as well as dermatology. In 1902 he succeeded Jean Alfred Fournier (1832-1914) as the university chair of dermatology and syphilography. Gaucher was also founder of a journal on venereal disease called Annales des Maladies Vénériennes.
Gaucher is remembered for his description of the disorder that was to become known as Gaucher disease. In 1882 while still a student, he discovered this disease in a 32-year old woman who had an enlarged spleen. At the time, Gaucher thought it to be a form of splenetic cancer, and published his findings in his doctorate thesis titled "De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie". However, it wouldn't be until 1965 that the true biochemical nature of Gaucher disease was understood.