Gaucher disease (Type I)
Gaucher disease (Type I) results from an enzyme deficiency that causes a fatty substance to accumulate in the liver, spleen, and bone marrow. Symptoms include anemia, easy bruising, impaired clotting, bone and joint pain, and other orthopedic problems.
Symptoms may appear in childhood or much later in life. Some patients may suffer from chronic ill health, while others may experience few, if any, of the disease manifestations.
Enzyme replacement therapy has been developed in recent years and has been highly effective in reversing some symptoms and reducing the severity of others.
Type I Gaucher is the most prevalent Jewish genetic disease, with a carrier frequency of about 1 in 15. Screening will detect approximately 95% of cariers.
Information on Gaucher Disease from the Mount Sinai School of Medicine’s Comrehensive Gaucher Treatment Center