Gaucher disease was named after the French medical student Phillipe Gaucher in 1882, who first described the disease on observing a young woman with an enlarged spleen and characteristic engorged cells. Brady RO. Gaucher’s disease: past, present and future. Bailleres Clin Haematol 1997;10(4):621-34. Just over 50 years later, Aghion reported that patients with this condition accumulated a sphingolipid called glucosylceramide. But it was not until 1965 that Brady and colleagues showed that Gaucher disease was caused by reduced activity of acid-β glucosidase. Brady RO. Gaucher’s disease: past, present and future. Bailleres Clin Haematol 1997;10(4):621-34.
Gaucher disease is a treatable condition. Gaucher management guidelines recommend an individualised treatment approach following careful assessment of all disease manifestations.
It is very important that brothers and sisters (siblings) of someone with Gaucher disease are tested in case they are also affected.