Beutler raises some important questions about monitoring patients with Gaucher disease, and we agree with him that ultimately recommendations on monitoring patients with this disorder should be based on evidence. However, the available literature does not provide sufficient evidence to entirely permit this approach. In the absence of such data, we sought to provide clinicians with a reasonable set of guidelines, which will lead to the accumulation of sufficient evidence to permit rational reevaluation and revision of the guidelines in the future. In our effort to develop reasonable guidelines, we considered the (incomplete) data available in the literature, and the considerable experience of the Regional Coordinators of the International Collaborative Gaucher Group, which has been meeting regularly since 1991, and whose individual members' experience includes decades of care for patients with Gaucher disease. The members of this group are treating and monitoring most of the patients receiving enzyme replacement therapy in the United States.
Charrow J, Esplin JA, Kaplan P, Kolodny EH, Pastores GM, Scott CR, Wappner RS, Weinreb NJ, Wisch JS. Gaucher Disease. Arch Intern Med. 1999;159(8):881–882. doi:
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