You're likely to first bring any symptoms to the attention of your family doctor. He or she might refer you to a doctor who specializes in blood disorders (hematologist) or to a doctor specializing 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's disease?
- Have any children in your extended family died before the age of 2?
- What medications and supplements do you take regularly?
What to expect from your doctor
Your doctor might ask some of the following questions:
- What are the symptoms and when did they begin?
- Is there pain in the abdomen or bones?
- Have you noticed that bruising occurs more easily? Any nosebleeds?
- What's your family's heritage?
- Are there any diseases or collection of symptoms that have occurred in several generations in your family?
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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