Heritage & Tradition May Not Be All That You've Been Handed . . .

Gaucher Disease is a genetic disorder handed down from generation to generation.

It is most common among persons of Jewish, Eastern and Central European ancestry, but individuals from any ethnic group may be affected.

If you have a positive family history or symptoms, testing is available. Please fill out the questionnaire or contact the Albany Medical Center Referral Line at 1-800-456-9900 before things get out of hand.

Albany Medical Center is the only academic health sciences center in the 25 counties of eastern New York and western New England. It unites the many programs of Albany Medical Center Hospital and Albany Medical College.

There are treatments

Gaucher (pronounced "Go-Shay") disease is a genetic disorder caused by deficiency of the enzyme, glucocerebrosidase. This deficiency causes a fatty substance to accumulate in certain body tissues such as the spleen, liver, and bone marrow. There are three types of Gaucher disease, this web site focuses on Type I Gaucher disease — the most common form.

Symptoms of Gaucher disease usually become apparent in childhood or early adulthood but can be diagnosed at anytime throughout someone's life. An individual affected by Gaucher disease might exhibit 1 or several of these symptoms: enlarged liver and/or spleen, anemia, fatigue, easy bruising, impaired blood clotting (e.g. frequent nose bleeds without trauma and gum bleeding with regular brushing, bruising for no reason), bone pain, and fractures.

An effective and safe enzyme replacement therapy for Type I Gaucher disease is available. A blood test is all that is necessary to find out if an individual has Gaucher disease.