Gaucher Disease Diagnosis and Treatment

Testing for Gaucher disease (pronounced go-SHAY) is easy and involves a standard blood test called a beta-glucosidase leukocyte (BGL) test. Patients must often request it because most general practitioners are not aware of Gaucher disease, which only affects 1 in 40,000 in the general population.

Early diagnosis is critical for proactive Gaucher disease treatment, which helps minimize any permanent damage to the body.

Diagnosing Gaucher Disease

If you experience symptoms or if Gaucher disease runs in your family, it is important to get tested. Testing for Gaucher disease involves a standard blood test available at a hospital or doctor’s office.

Physicians rely primarily on the BGL test for enzyme activity, also using genetic testing to identify specific mutations associated with Gaucher disease. Learn more about testing for Gaucher disease.

Enzyme test for Gaucher disease

A BGL test for enzyme activity will almost certainly show if you have Gaucher disease. All patients with Gaucher disease have low glucocerebrosidase (GBA) enzyme activity, which is why their bodies cannot break down glucocerebroside (a fatty chemical). Rarely, BGL test results can be inconclusive, in which case genetic testing can usually help clarify whether you have Gaucher disease.

Physicians measure enzyme activity with a blood test. They do so by taking a blood sample for adults, or a less invasive heel stick (a smaller prick) for babies.

Genetic testing for Gaucher disease

Genetic testing shows whether a person has the specific mutations associated with Gaucher disease. Physicians perform this test using a blood or saliva sample.

Genetic testing can also detect who is a carrier of Gaucher disease. Carriers do not have the disease, but they may pass the gene to their children. Find out more about Gaucher disease carrier status.

Treatments for Gaucher Disease

Treating Gaucher disease minimizes symptoms and permanent damage to your body. There are two types of Gaucher disease treatments currently available: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).

Enzyme replacement therapy (ERT)

Enzyme replacement therapy (ERT) balances low levels of GBA enzyme with a modified version of the enzyme. ERT involves receiving intravenous (IV) infusions about every 2 weeks.

Patients can receive ERT either at an infusion center or at home with the help of a home health nurse. Learn more about enzyme replacement therapy for Gaucher disease.

Substrate reduction therapy (SRT)

Substrate reduction therapy (SRT) works differently from ERT, working instead to reduce the amount of glucocerebroside produced in your body. SRT is available as an oral medication, which many patients find more convenient than ERT infusions. Find out more about substrate reduction therapy (oral medication) for Gaucher disease.

A Gaucher specialist can help you determine which treatment is best for you and ensure the proper dosage and frequency to reduce symptoms. Use our Gaucher disease treatment finder to locate a specialist, or read more about Gaucher disease treatment.

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