During a physical exam, your doctor will press on you or your child's abdomen to check the size of the spleen and liver. He or she might also recommend certain lab tests, imaging scans and genetic counseling.
Blood samples can be checked for levels of the enzyme associated with Gaucher's disease. Genetic analysis can also reveal whether you have the disease.
People diagnosed with Gaucher's disease typically require periodic tests to track its progression. These may include imaging tests such as:
- Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density.
- Magnetic resonance imaging (MRI). Using radio waves and a strong magnetic field, an MRI can show whether the spleen or liver is enlarged, and if bone marrow has been affected.
Preconception screening and prenatal testing
You may want to consider genetic screening prior to starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher's disease. In some cases, doctors may recommend prenatal testing to see if the fetus is at risk of Gaucher's disease.
May 13, 2014
- Lichtman MA, et al. Williams Hematology. 8th ed. New York, N.Y.: The McGraw-Hill Companies; 2010. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=69. Accessed Feb. 3, 2014.
- Goldman L, et al. Goldman's Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.clinicalkey.com. Accessed Feb. 3, 2014.
- Hochberg MC, et al. Rheumatology. 5th ed. Philadelphia, Pa.: Elsevier; 2011. http://www.clinicalkey.com. Accessed Feb. 3, 2014.
- Deegan P. Gaucher disease: Pathogenesis, clinical manifestations and diagnosis. http://www.uptodate.com/home. Accessed Feb. 3, 2014.
- Cassinerio E, et al. Gaucher disease: A diagnostic challenge for internists. European Journal of Internal Medicine. 2013: In press. Accessed Feb. 6, 2014.
- Deegan P. Gaucher disease: Treatment. http://www.uptodate.com/home. Accessed Feb. 6, 2014.
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