People with Gaucher disease lack sufficient activity levels of an enzyme called glucocerebrosidase. This enzyme helps the body break down worn-out cells and as a result of the enzyme deficiency, a fatty substance called glucocerebroside accumulates in the spleen, liver, bone marrow and sometimes in the central nervous system.
The timing and severity of symptoms vary greatly. Generally speaking, the later in life the first symptoms appear, the less likely that the disease will be severe.
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.
