Important Safety Information: Approximately 15% of patients have developed IgG antibodies to Cerezyme during the first year of therapy. Approximately 46% of patients with detectable IgG antibodies experienced symptoms of hypersensitivity, and these patients have a higher risk of hypersensitivity. It is suggested that patients be monitored periodically for IgG antibody formation during the first year of treatment... View more

Symptoms, Diagnosis & Testing

Recognize Gaucher disease and understand the consequences of delayed diagnosis and treatment.

Recognizing symptoms of Gaucher disease

Gaucher disease is an inherited, autosomal recessive lifelong condition marked by extreme diversity in genotype, phenotype, age of onset, and disease severity, as well as an unpredictable, progressive disease course.1,6 Signs, symptoms, and clinical course may differ even among individuals with the same genotype and within the same family.7 It may also display inactive periods interrupted by episodes of acute crisis or evidence of disease advancement. Patients may appear to be asymptomatic, yet harbor disease manifestations such as cytopenia, splenomegaly, or osteopenia.1,2 Symptoms should not be ignored, as this progressive condition may lead to further medical complications.1

Symptoms are
diverse, unpredictable, and variable1,6,7

Onset may occur at any age

Onset may occur at any age

Signs and symptoms

Some patients may be asymptomatic
while others may experience one or
more symptoms

Some symptoms may fluctuate as the disease progresses

The nature and severity of some
symptoms may fluctuate as
disease progresses

Signs and symptoms

The signs and symptoms of Gaucher disease may not be obvious. The early signs and symptoms of Gaucher disease type 1 tend to reflect the hematologic aspects of the disease, but skeletal manifestations are often present.2

  • Splenomegaly and/or thrombocytopenia are 2 of the most prominent and frequent symptoms6
  • Hepatomegaly, anemia, and bone disease are also common3,6
  • Symptoms often mimic the signs of hematologic malignancies (ie, leukemia, lymphoma, or multiple myeloma)1
  • Symptoms can begin at any age, and the clinical progression ranges from asymptomatic to life-threatening1,6
  • Growth failure can occur in children8


Anemia 40%

Moderate to Severe Hepatomegaly 87%

Moderate to Severe Thrombocytopenia 50%

Moderate to Severe Splenomegaly 95%

Bone Disease:

  • Radiologic Evidence 81%
  • Bone Pain 27%
  • Bone Crisis 9%

Delayed Growth 34%


  • Anemia 64%
  • Thrombocytopenia 56%

Hepatomegaly 79%

Lung manifestations 1-2%

Splenomegaly 87%

Bone Pathologies:

  • Bone pain 63%
  • Erlenmeyer Flask Deformity 46%
  • Osteopenia 42%
  • Bone Crisis 33%
  • Avascular Necrosis 25%
  • Pathologic Fracture 15%
  • Joint Replacement 8%

Splenomegaly and/or thrombocytopenia are among the two most prominent and frequent presenting symptoms of Gaucher disease type 12,3

A delayed diagnosis can lead to further disease progression and multisystemic complications.1

Consequences of delayed diagnosis

When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years. Gaucher disease is progressive and over time may lead to1,2,11:

  • Bleeding due to thrombocytopenia/
    coagulopathy, anemia
  • Progressive visceral enlargement
  • Bone pain, osteonecrosis and fractures
  • Growth failure in children
  • Cytokine storm
  • Markedly reduced quality of life
  • Shortened life and increased cancer risk

Early diagnosis and proper management remain important, as damage caused by Gaucher disease may be irreversible1,2

It takes only 1 simple blood test to make a diagnosis if you suspect Gaucher disease. Visit to learn more about the Gaucher enzyme test.

Suspect Gaucher disease? Test to know

Test for Gaucher disease
  • β-Glucosidase enzyme assay is the standard, recommended method for establishing a confirmatory diagnosis of Gaucher disease, which is demonstrated by deficiency of β-glucosidase activity2
  • Molecular testing (DNA) can be used to confirm the type of Gaucher disease as well as carrier status2,6
Simple diagnostic algorithm may help test for Gaucher disease

Don’t miss a Gaucher disease diagnosis. Test to know. It’s just a simple blood-based enzyme assay (ß-glucosidase).2

  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. 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.
  3. Weinreb NJ. Pathophysiology, clinical features, and natural history of Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6) Suppl 8:3-6.
  4. Memorial Sloan Kettering Cancer Center. More Ashkenazi Jews have gene defect that raises inherited breast cancer risk. The Oncologist News Bulletin. 1996;1:335.
  5. Mistry PK. Genetics and diagnosis of Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6) Suppl 8:7-9.
  6. 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). pii: E441.
  7. Lachmann RH, Grant IR, Halsall D, et al. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. Q J Med. 2004;97(4):199-204.
  8. Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160(6):603-8.
  9. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Archives of Internal Medicine. 2000 Oct 9;160(18):2835-43.
  10. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4)(suppl 5):4-14.
  11. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biol Targets Ther. 2010;4:299-313.
  12. Deegan PB, Cox TM. Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther. 2012;6:81-106.
  13. Shayman JA. Glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease. Drugs Future. 2010;35(8):613-620.
Gaucher disease is more prevalent than you think
Numbers matter

Gaucher disease is more prevalent than you think

See the statistics
Gaucher disease type 1 is manageable
Gaucher disease type 1 is manageable

When an ERT is needed, choose the longest-approved therapy

Learn more
Indication & Usage

Cerezyme® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of Type 1 Gaucher disease that results in one or more of the following conditions:

  • anemia
  • thrombocytopenia
  • bone disease
  • hepatomegaly or splenomegaly
Important Safety Information

Approximately 15% of patients have developed IgG antibodies to Cerezyme during the first year of therapy. Approximately 46% of patients with detectable IgG antibodies experienced symptoms of hypersensitivity, and these patients have a higher risk of hypersensitivity. It is suggested that patients be monitored periodically for IgG antibody formation during the first year of treatment.

Hypersensitivity has also been observed in patients without detectable IgG antibodies. Symptoms suggestive of hypersensitivity have been noted in approximately 6.6% of all patients, and anaphylactoid reactions in less than 1%. Treatment with Cerezyme should be approached with caution in patients who have exhibited hypersensitivity symptoms such as pruritus, flushing, urticarial, angioedema, chest discomfort, dyspnea, coughing, cyanosis, and hypotension. Pre-treatment with antihistamines and/or corticosteroids and a reduced rate of infusion may allow continued treatment in most patients.

In less than 1% of patients, pulmonary hypertension and pneumonia have been observed during treatment with Cerezyme. These are known complications of Gaucher disease regardless of treatment. Patients with respiratory symptoms in the absence of fever should be evaluated for the presence of pulmonary hypertension.

Approximately 13.8% of patients have experienced adverse events related to treatment with Cerezyme. Some of these are injection site reactions such as discomfort, pruritus, burning, swelling or sterile abscess at the site of venipuncture. Additional adverse reactions that have been reported include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and tachycardia. Transient peripheral edema has also been reported for this therapeutic class of drug.

To report SUSPECTED ADVERSE REACTIONS, contact Sanofi Genzyme Medical Information at 1-800-745-4447, Option 2.

Please see Full Prescribing Information (PDF).