Gaucher disease is the most common lysosomal storage disorder, caused by accumulation of the enzyme substrate glucosylceramide (GL-1) in cells of monocyte/macrophage lineage, resulting in progressive, multiorgan dysfunction.1,2
Many patients present similarly to hematologic malignancies, such as Leukemia, Multiple Myeloma, and many others.1
This progressive, lifelong disease can go undiagnosed for years. When the diagnosis is missed, a patient with Gaucher may experience delays for up to 10 years.1
The earlier patients are tested for Gaucher disease, the sooner they can be diagnosed and treated.1
Consider Gaucher disease in your differential diagnosis.
It’s a simple blood test.
How to Test & Diagnose
Bone pain, fractures, avascular necrosis, osteopenia, and osteoporosis
Growth failure in children
Lung disease and pulmonary hypertension
Hepatic, splenic, or marrow fibrosis
Shortened life span
Unnecessary procedures (i.e. liver biopsy, splenectomy, empirical corticosteroid therapy)
Bleeding and bleed complications
Anemia, fatigue, and pallor
Markedly reduced quality of life
In the Short Term, Therapy May Improve4
In the Long Run,
Therapy May Prevent Progressive Manifestations5
References:
1. 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.
2. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(suppl 5):4-14.
3. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry. Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160(18):2835-2843.
4. 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.
5. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.
