It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids.The disease is named after the French physician Philippe Gaucher, who originally described it in 1882. Signs and symptoms
Painless hepatomegaly and splenomegaly: the size of the spleen can be 1500–3000 g, as opposed to the normal size of 50–200 g. Splenomegaly may decrease the affected individuals capacity for eating by exerting pressure on the stomach. While painless, enlargement of spleen increases the risk of splenic rupture. Hypersplenism and pancytopenia, the rapid and premature destruction of blood cells, leads to anemia, neutropenia, leukopenia, and thrombocytopenia (with an increased risk of infection and bleeding). Cirrhosis of the liver is rare. Severe pain associated with joints and bones occurs, frequently presenting in hips and knees. Neurological symptoms occur only in some types of Gauchers (see below):
Type I: impaired olfaction and cognition
Type II: serious convulsions, hypertonia, intellectual disability, and apnea
Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia
Parkinsons disease is recognized as being more common in Gauchers disease patients and their heterozygous carrier relatives. Osteoporosis: 75% of patients develop visible bony abnormalities due to the accumulated glucosylceramide. A deformity of the distal femur in the shape of an Erlenmeyer flask  is commonly described. Yellowish-brown skin pigmentation

Genetics
The three types of Gauchers disease are autosomal recessive. Both parents must be carriers for a child to be affected.
This approach is called substrate reduction therapy.Eliglustat (Cerdelga) (approved in 2014)  is also a small molecule. The compound is believed to work by inhibition of glucosylceramide synthase. Epidemiology
The National Gaucher Foundation (United States) states the incidence of Gauchers disease is about one in 20,000 live births. Around one in 100 people in the general US population is a carrier for type I Gauchers disease, giving a prevalence of one in 40,000. Among Ashkenazi Jews, the rate of carriers is considerably higher, at roughly one in 15.Type II Gauchers disease shows no particular preference for any ethnic group.Type III Gauchers disease is especially common in the population of the northern Swedish region of Norrbotten, where the incidence of the disease is one in 50,000. History
The disease was first recognized by the French doctor Philippe Gaucher, who originally described it in 1882 and lent his name to the condition. In 1902, its mode of inheritance was discovered by Nathan Brill. The neuronal damage associated with the disease was discovered in the 1920s, and the biochemical basis for the disease was elucidated in the 1960s by Roscoe Brady. The first effective treatment for the disease, the drug alglucerase (Ceredase), was approved by the FDA in April 1991. An improved drug, imiglucerase (Cerezyme), was approved by the FDA in May 1994 and has replaced the use of Ceredase. October is National Gauchers Disease Awareness Month in the United States.