Recognizing Gaucher Symptoms

Gaucher disease symptoms include bone pain, easy bruising, nose bleeds, fatigue, and protruding abdomen

These general symptoms should be taken seriously and could be the signs of a rare, genetic disease that can take up to 4 years to diagnose.3

Testing is the only way to know.

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Gaucher disease is a progressive disease and a delay in diagnosis and treatment can lead to advancing symptoms and severe consequences.3,4

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Gaucher disease type 1 can be effectively managed once a diagnosis is made. Treatment options are available, including oral therapies.5

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You are not alone in your Gaucher disease journey.

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References:

1. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry. Demographics and disease characteristics of 1698 patients with Gaucherdisease. Arch Intern Med. 2000;160(18):2835-2843.

2. Mistry PK, Weinthal JA, Weinreb NJ. Clinical roundtable monograph. Disease state awareness in Gaucher disease: a q&a expert roundtable discussion. Clin Adv Hematol. 2012;10(6 suppl 8):3-16

3. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists–oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82(8):697-701.

4. Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab. 2015. 12(2):157-164.

5. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):ii, E441