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Gaucher Disease

Cody and Kolten for Gaucher DiseaseGaucher disease is a rare genetic disorder caused by the deficiency or absence of the enzyme glucocerebrosidase. This missing enzyme means that the body is unable to break down and recycle specific fatty substances called glucocerebrosides.The glucocerebrosides accumulate mainly in the spleen, liver, bone marrow, and lung. Cells that become enlarged due to the build up of glucocerebrosides are referred to as Gaucher cells.[1,2]

Gaucher disease is the most common lysosomal storage disorder and affects approximately 1 in 100,000 people in the general population.[3] However, in specific populations such as Jewish populations of Eastern European (Ashkenazi) origin the disease prevalence is 1:855.[3]

There are three types of Gaucher disease. Type 1 is the most common and accounts for more than 90% of Gaucher patients. Symptoms can vary greatly between patients and can occur at any age, although some patients may not experience symptoms until adulthood, and some may show no symptoms at all. Typical signs and symptoms may include enlarged liver and spleen, anemia, low platelet counts (thrombocytopenia), and skeletal abnormalities.[1]

Resources And Organizations

The following organizations may be a resource for information and support for patients, families, and caregivers.

EuropeanGaucherAlliance European Gaucher Alliance (EGA)

Organization representing the interests of Gaucher Patients and Groups throughout Europe and elsewhere in the world.

NationalGaucherFoundation National Gaucher Foundation

An objective, independent voice of the Gaucher community, providing leadership, outreach and innovative thinking in the US.

EURORDIS Voice of Rare Disease Patients in Europe

A non-governmental patient-driven alliance of 606 rare disease patient organizations in 56 countries.

NORD National Organization for Rare Disorders

Leading rare disease umbrella organization that provides advocacy, research, education and patient services in the US.

References

  1. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008;372:1263-71.
  2. Mayo Clinic. Gaucher’s disease. Tests and diagnosis. http://www.mayoclinic.org/diseases-conditions/gauchers-disease/basics/tests-diagnosis/con-20031396?DSECTION=all. Accessed May 18, 2015.
  3. GuggenbuhlP, GrosboisB, ChalèsG. Gaucher disease. Joint Bone Spine. 2008;75(2):116-124.


S35102 09/17

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