Diagnosing Gaucher Disease

Type 1 Gaucher disease can be challenging to diagnose, despite the availability of different forms of accurate, diagnostic tests (enzyme assays, bone marrow, and DNA analysis). Misdiagnosis is not unusual, and it can delay treatment and compromise successful treatment outcomes. Because Type 1 Gaucher disease is progressive, it is crucial to diagnose and treat before irreversible damage occurs.

Common misdiagnoses

Many of Gaucher disease’s presenting symptoms — from distended abdomen to bone pain to hematological complications — are found with other more common diseases. Some of the most common misdiagnoses include:1

  • Leukemia
  • Lymphoma
  • Bleeding disorders
  • Osteomyelitis

In addition, other diseases sometimes present with engorged cells that resemble Gaucher cells, which can easily lead to a misdiagnosis of Gaucher disease.2 Conditions for which these "pseudo-Gaucher cells" have been detected include:

  • Chronic granulocytic leukemia
  • Multiple myeloma
  • Hodgkin’s disease

Testing to confirm a Gaucher diagnosis

While an evaluation of signs and symptoms can help physicians arrive at a preliminary diagnosis, several tests are available for confirmation.

Enzyme testing

Gaucher disease is confirmed by ß-glucocerebrosidase activity in leukocytes or skin fibroblasts that is between 0% and 30% of normal values.1,3

DNA testing

DNA testing can be used to aid diagnosis in Ashkenazi Jews, in whom four specific gene mutations occur in 89% to 96% of Gaucher disease patients.4 This method is considered less sensitive than enzyme analysis when used as a diagnostic tool in the general population.

DNA testing, however, provides the most reliable means of identifying carriers. Carrier testing is recommended for all close relatives of a confirmed Gaucher disease patient.5,6

Click here to download a list of diagnostic laboratories in the United States. 

Important information for Hematologists/Oncologists

Because patients can present with any combination of anemia, thrombocytopenia, hepatosplenomegaly or skeletal disease, most see a hematologist/oncologist during their quest for diagnosis.

Unfortunately, many hematologists don’t suspect Gaucher disease even when the presentation is classic. Evidence of how difficult the disease can be to diagnose can be seen in a recent survey*, when only 1 out of 5 hematologists suspected Gaucher disease in a case of a 42-year-old male presenting with anemia, thrombocytopenia, hepatomegaly, splenomegaly, acute bone pain, and chronic bone pain. The physicians suspected leukemia, lymphoma and multiple myeloma ahead of Gaucher disease.

Increased awareness amongst hematologists/oncologists may improve early identification and treatment of Gaucher disease, leading to improved outcomes. Gaucher disease diagnosis can be confirmed with a blood test.

* Research conducted August 2005 by Holden Pearmain, Ltd. (N = 406: US 136, Canada 50, Brazil 50, Argentina 50, Spain 50, Japan 50, Australia 20). Between June 15 and July 5, 2005, computer-assisted telephone interviews were conducted of Hematologists, Hematologists/Oncologists, Pediatric Hematologists, and Pediatric Hem/Oncs in practice for 3-30 years since completion of training and spending at least 60% of their time with patients in the clinic. Physicians were surveyed from the U.S., Canada, Brazil, Argentina , Spain, Japan, and Australia. To determine which medical conditions physicians associate with typical signs and symptoms of Gaucher disease, physicians were prompted to think of a 42-year old male with six signs and symptoms associated with Gaucher disease. In response to this constellation of symptoms, 18% of physicians considered Gaucher disease in their differential diagnosis. Alternative responses included leukemia (64%), lymphoma (37%), multiple myeloma (23%), chronic granulocytic leukemia (14%), and bleeding disorder (4%). 5% of respondents had no answer.

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:

  1. anemia
  2. thrombocytopenia
  3. bone disease
  4. 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 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 Genzyme at 800-745-4447, option 2 or FDA at 800-FDA-1088 or http://www.fda.gov/Safety/MedWatch

Please see Full Prescribing Information (PDF).


  1. Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS, eds. Harrison's Principles of Internal Medicine. 15th ed. New York, NY: McGraw-Hill; 2001:2276-2281.
  2. Pastores GM. Pathological features of Gaucher’s Disease. Bailliere’s Clinical Hematology. 1977; 10(4): 739-749.
  3. Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Ach Intern Med. 1998;158:1754-1760.
  4. Grabowski G. Gaucher disease: enzymology, genetics, and treatment. In:Harris H, Hirshchorn K, eds. Advances in Human Genetics. New York, NY: Plenum Press; 1993:377-441.
  5. Morales LE. Gaucher’s disease: a review. Ann Pharmacother. 1996;30:381-388.
  6. National Library of Medicine. Medical encyclopedia: Gaucher disease. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000564.htm. Accessed May 25, 2011.
Within 4 years of initiating Cerezyme therapy, 93% of patients in the Gaucher Registry met at least 4 of 6 therapeutic goals.*
* Weinreb N et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Am J Hematol. 2008;83(12):890–895.