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. In the past, invasive bone-marrow tests were most common. Today, enzyme assays can be used to measure glucocerebrosidase activity in cells obtained from the patient, providing definitive diagnosis of Gaucher disease: enzyme activity of 30% or less than normal definitively indicates Gaucher. Enzyme activity can be measured either in leukocytes, which are fairly easily obtained, or in skin fibroblasts.^[1]

Enzyme testing

Gaucher disease is confirmed by a measurement of ß-glucocerebrosidase activity that is between 0% and 30% of normal values.^[1,2] Enzyme testing may offer benefits for diagnosing Gaucher disease:

Using commercially available reagents via a blood test, enzyme activity can be measured.

An enzyme assay is more precise and less invasive than bone marrow biopsy. ^[3]

DNA testing

DNA testing can be used to aid diagnosis in Ashkenazi Jews, where 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.^[3,5]

Additional evaluations

Apart from diagnostic and carrier testing, other evaluations are recommended to gauge disease progression and tailor therapy. These include skeletal imaging, hematological assays, and visceral evaluations.^[6] Go to Monitoring Guidelines to learn more about supplemental testing to aid patient care.

Genetic counselors may take patients through a detailed family history to aid evaluation.

Go to Signs and Symptoms to learn more about the symptoms that can point a physician to consider a full workup for Gaucher disease.

Gaucher disease experts

Gaucher disease treatment centers provide specialized diagnostic and treatment services for patients with Gaucher disease. They are staffed by physicians and other medical professionals (geneticists, hematologists, genetic counselors, and others) who specialize in the treatment of Gaucher disease and counseling for related issues. These specialists may offer guidance on this challenging condition.

To find out more about these facilities for consultation and possible referral, go to Locate a Treatment Center.

1. Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Ach Intern Med. 1998;158:1754-1760.

2. Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS, eds. Harrison’s Principles of Internal Medicine. 15^th ed. New York, NY: McGraw-Hill; 2001:2276-2281.

3. Morales LE. Gaucher’s disease: a review. Ann Pharmacother. 1996;30:381-388.

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. National Library of Medicine. Medical encyclopedia: Gaucher disease. Available at:. http://www.nlm.nih.gov/medlineplus/ency/article/000564.htm. Accessed August 5, 2002.

6. The Gaucher Registry. Data on file.