Preparing for your appointment

You're likely to start be seeing your primary care provider. Then you might be referred to a doctor who specializes in blood disorders (hematologist) or to a doctor who specializes in inherited disorders (geneticist).

What you can do

Before the appointment, you may want to write a list of answers to the following questions:

  • Has anyone in your family been diagnosed with Gaucher disease?
  • Have any children in your extended family died before the age of 2 years?
  • What medications and supplements do you take regularly?

What to expect from your doctor

Your doctor might ask questions, including:

  • What are the symptoms, and when did they begin?
  • Is there pain in the abdomen or bones?
  • Have you noticed easy bruising or nosebleeds?
  • What's your family's ancestral heritage?
  • Are there diseases or symptoms that have occurred in several generations in your family?
May 24, 2017
  1. Hughes D. Gaucher disease: Pathogenesis, clinical manifestations and diagnosis. Accessed Jan. 6, 2017.
  2. Gaucher disease (Type 1). Genetic Disease Foundation. Accessed Jan. 6, 2017.
  3. Hughes D. Gaucher disease: Initial assessment, monitoring and clinical course. Accessed Jan. 6, 2017.
  4. Gaucher disease. Merck Manual Professional Version. Accessed Jan. 6, 2017.
  5. National Library of Medicine. Gaucher disease. Genetics Home Reference. Accessed Jan. 6, 2017.
  6. Hughes D. Gaucher disease: Treatment. Accessed Jan. 6, 2017.
  7. FDA approves new drug to treat a form of Gaucher disease. U.S. Food and Drug Administration. Accessed Jan. 6, 2017.