Charrow et al1 have made sound suggestions for the diagnosis of Gaucher disease, but their recommendations for follow-up of patients diagnosed as having Gaucher disease require serious scrutiny. The performance of diagnostic procedures costing more than $4500 every year or two should be based on evidence. The authors state that they have based their recommendations on the medical literature and their own experience. Unfortunately, the principal literature that deals with the natural history of the disease is not cited, and the experience of the directors of International Collaborative Gaucher Group Registry is limited in scope and duration; this organization was established only a few years ago by Genzyme Corporation (Cambridge, Mass), the manufacturer of Ceredase and Cerezyme.
Beutler E. Gaucher Disease. Arch Intern Med. 1999;159(8):881. doi: