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Editor's Correspondence |

Recommendations for Diagnosis, Evaluation, and Monitoring of Patients With Gaucher Disease

Deborah Elstein, PhD; Ayala Abrahamov, MD; Irith Hadas-Halpern, MD; Ari Zimran, MD
Arch Intern Med. 1999;159(11):1254. doi:.
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In a recent issue of the ARCHIVES, Charrow et al,1 as US regional coordinators for the International Collaborative Gaucher Group (ICGG) registry, present their recommendations for diagnosis, evaluation, and monitoring of patients with Gaucher disease. As the largest referral clinic for Gaucher disease outside the United States, our recommendations regarding monitoring differ to some extent from those enumerated in the above-mentioned article. We feel that the recommendation to use magnetic resonance imaging (MRI) or computed tomography (CT) for repeated evaluation of visceral involvement is probably unnecessary outside the constraints of a clinical trial. Ultrasound is highly accurate, universally available, inexpensive, involves no exposure to radiation, and the measurements can be easily converted for comparison to MRI2 and CT.3 Similarly, the recommendations for technetium Tc 99m sulfur colloid nuclear scanning and quantitative chemical shift MRI for routine bone assessment are problematic, not being universally available, and not clearly adding to the clinical appraisal of the patient. For skeletal involvement, we prefer dual energy x-ray absorptiometry in all adult patients as a measure of bone mass density at annual intervals. Plain radiography is performed at baseline and then only again as dictated by clinical events, in that 24 to 42 months are needed to evince radiographic documentation of improvement owing to enzyme treatment.4,5

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