Diagnosis

During a physical exam, your doctor will press on your or your child's abdomen to check the size of the spleen and liver. To determine if your child has Gaucher disease, the doctor will compare your child's height and weight to standardized growth charts.

He or she might also recommend certain lab tests, imaging scans and genetic counseling.

Lab tests

Blood samples can be checked for levels of the enzyme associated with Gaucher disease. Genetic analysis can reveal whether you have the disease.

Imaging Tests

People diagnosed with Gaucher disease typically require periodic tests to track its progression, including:

  • Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density.
  • 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 might want to consider genetic screening before starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher disease. In some cases, doctors recommend prenatal testing to see if the fetus is at risk of Gaucher disease.

May 24, 2017
References
  1. Hughes D. Gaucher disease: Pathogenesis, clinical manifestations and diagnosis. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
  2. Gaucher disease (Type 1). Genetic Disease Foundation. http://www.geneticdiseasefoundation.org/genetic-diseases/gaucher-disease-type-i/. Accessed Jan. 6, 2017.
  3. Hughes D. Gaucher disease: Initial assessment, monitoring and clinical course. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
  4. Gaucher disease. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/gaucher-disease. Accessed Jan. 6, 2017.
  5. National Library of Medicine. Gaucher disease. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed Jan. 6, 2017.
  6. Hughes D. Gaucher disease: Treatment. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
  7. FDA approves new drug to treat a form of Gaucher disease. U.S. Food and Drug Administration. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm410585. Accessed Jan. 6, 2017.