Gaucher’s Disease

Likelihood of disorder.• Male and female have an equal chance to receive Gaucher’s disease.• with 4 genetic mutations which account for 95% of the Gaucher Disease in

the Ashkenazi Jewish population, and 50% of the Gaucher Disease in the general population.

• 1 in 15 Jewish people of Eastern European ancestry, and 1 in 100 of the general population.

Affect to lifespan

• Depending on when the disease occurs and severity, type 1 patients may live well into adulthood.

• Children with type 2 usually die by age 2.• Type 3 can begin at any time in childhood or

even in adulthood and people only live into their early teen years.

Symptoms • Symptoms vary depending on the type(1,2,or 3) but are very similar.• The first and most common type, called type 1, has symptoms that occur early in childhood or

later while an adult. People with type 1 will bruise easily due to low blood platelets and experience fatigue due to anemia They also will have an enlarged liver and spleen, skeletal disorders, and, possibly, lung and kidney impairment. There is no sign of brain damage in this stage.

• In type 2 Gaucher disease, liver and spleen enlargement are apparent by 3 months of age. Individuals have extensive and progressive brain damage and usually die before 2 years of age.

• In type 3, liver and spleen enlargement is may not occur, but signs of brain involvement such as seizures gradually become more frequent. Major symptoms include skeletal irregularities, eye movement disorders, and blood disorders.

• All people with Gaucher disease suffer from a deficiency of an enzyme called glucocerebrosidase which is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly.

• The only visible symptoms one may see are excessive bruising or irregularities with eye movement.

Symptoms

Probability of Gaucher’s• Approximately 1 in 20,000 live births inherit this disease with

a carrier frequency of 1 in 10.• If both parents are carriers, then there is a 1 in 4 chance that

the child will have Gaucher Disease, a 1 in 2 chance that the child will not have the disease but will be a carrier, and a 1 in 4 chance that the child will neither have the disease nor be a carrier.

Testing • Carrier status can be detected through blood or saliva to

identify potential carriers of the Gaucher gene.• Gaucher disease can be diagnosed early in childhood and

onward through a blood test.• The testing process can be done at a hospital, Gaucher

specialist’s office, or through your family physician. (Your physician can draw blood that would then be sent to a specific laboratory for testing).

Treatment• Highly effective enzyme replacement therapy is available for

most people with types 1 and 3 Gaucher disease and can decreases liver and spleen size, reduces skeletal anomalies, and successfully reverse abnormal blood counts.

• Bone marrow transplantation (a procedure to replace damaged or destroyed blood-forming cells) can reverse the non-neurological effects of type 1 Gaucher disease, but carries a high mortality rate due to imperfect donor matches. This procedure has been replaced by enzyme replacement therapy.

• There is no successful treatment for severe brain damage that may occur in people with types 2 and 3 Gaucher disease.

Inheritance Pattern

• Gaucher’s Disease is transmitted as an autosomal recessive, both parents must carry the mutation for the child to have the disease and it occurs equally in male and female.

Support Groups• Childrens Gauchers Disease Research Fund

• Support Groups International Collaborative Gaucher Group

Location

• The disease is caused by a defect in the housekeeping gene lysosomal glucocerebrosidase (also known as beta-glucosidase, on the first chromosome.

Interesting Facts

• There are 34 mutations known to cause Gaucher Disease

• Only 4 genetic mutations account for 95% of the Gaucher Disease in the Ashkenazi Jewish population, and 50% of the Gaucher Disease in the general population.

Bibliography • National Institute of Neurological Disorders and Stroke

(NINDS). Web. 25 Jan. 2011. <http://www.ninds.nih.gov/>.

• "National Gaucher Foundation - NGF - Contact Us." National Gaucher Foundation-NGF-Education-Awareness-Treatment-Gaucher Disease. Web. 25 Jan. 2011. <http://www.gaucherdisease.org/contact.php>.

• National Gaucher Foundation-NGF-Education-Awareness-Treatment-Gaucher Disease. Web. 25 Jan. 2011. <http://www.gaucherdisease.org/>.