Gaucher disease is a rare, inherited, progressive condition that causes a fatty substance called glucosylceramide, (also called GL-1) to build up in certain organs or bones.1,2
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.
Get tested todayGaucher 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
View Treatment OptionsYou are not alone in your Gaucher disease journey.
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
