Recognizing the Major Presenting Signs and Symptoms of Gaucher Disease

Because Gaucher disease type 1 is the most prevalent of the three subtypes, our discussion of presenting clinical manifestations 1,2,3 at diagnosis will center around those that typify type 1.

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In general, the manifestations of type 1 Gaucher disease decrease a patient's quality of life and functional health, and include:



  1. Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS, eds. Harrison’s Principles of Internal Medicine. 15th ed. New York, NY:McGraw-Hill;2001:2276-2281.
  2. Beutler E, Grabowski G. Gaucher disease. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. p. 3635-3668.
  3. Charrow J, Andersson H, Kaplan P, Kolodny E, Mistry P, Pastores G, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160:2835-43.

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