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

Gaucher disease type 1 is progressive and over time may lead to:1,5

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

  • Anemia
  • Thrombocytopenia
  • Hepatomegaly
  • Splenomegaly

In the Long Run,

Therapy May Prevent Progressive Manifestations5

Doctor speaking to a patient

Recognize Gaucher Disease

Understand the common signs and symptoms

Lab technician with a petri dish and pipette

Don’t Miss the Diagnosis

Understand the common signs and symptoms

Doctor speaking to a patient

Treatment Options

Gaucher disease can be managed4



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.