Gaucher Disease (cont.)

Medical Reviewer:

What how common is Gaucher disease?

Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.

Who is at risk for Gaucher disease?

  • Gaucher occurs in both males and females.
  • Gaucher affects people of all races and ethnicities, all over the world.
  • Gaucher is more common in people of Ashkenazi (Eastern European) Jewish descent.
  • The signs and symptoms of Gaucher may appear in affected individuals at any age.
  • The signs and symptoms of Gaucher may be very different within families, even between siblings.
  • When both parents are carriers, there is a 1 in 4 (25%) chance that any child born will have Gaucher.
  • If one parent has the disease and the other parent is a carrier, there is a 1 in 2 (50%) chance that any child born will have Gaucher.
  • When both parents have Gaucher, all of their children will inherit the disease.

What are the major signs and symptoms of Gaucher disease?

Major signs and symptoms of Gaucher disease

  • Anemia (low red blood cell count)
  • Fatigue (tiredness)
  • Low platelet count
  • Easy bruising
  • Large spleen and liver
  • Easy bleeding that is difficult to stop
  • Bone pain, bone crisis (severe bone pain often accompanied
  • by fever), and the chance of easily broken bones
  • Reduced bone mineral density
Medically Reviewed by a Doctor on 8/26/2014