Chapter 3: Gaucher Disease: The Beginning



Gaucher Disease bears its name from Dr. Philippe Gaucher. He was a medical student in 1882 and he worked in Cochin hospital downtown Paris shown here. At that time, the way you got your MD degree was to study a patient very carefully over a period of several years, and then write a scholarly piece of work focused on that particular patient.  Dr. Gaucher looked after a 32 year old woman who died of cachexia and hepatosplenomegaly and obtained autopsy material to do detailed pathological studies. On the right hand side are shown his pencil diagrams of what he saw under the microscope of paraffin blocks of the spleen, and he saw very abnormal histiocytes like this which are now called the gaucher cells.  When he saw these abnormal cells Dr. Gaucher felt that he had discovered a new kind of neoplasm of the spleen and therefore the first title page of his MD thesis claims that he has discovered a primitive epithelioma of the spleen. 1882 was a very exciting time in France, it was a centre of medical innovation, the Pasteur Institute was founded, Louis Pasteur discovered the rabies vaccine, there was also the discovery of diphtheria antitoxin and yersinia pestis in Paris at that time. But importantly for Gaucher Disease, Dr. Ilya Mechnokov, a Russian immigrant who was researching on mononuclear phagocytes was the first to discover this cell type, and of course mononuclear phagocytes are very important to Gaucher Disease because Gaucher’s cells are derived from mononuclear phagocytes.




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