Print | Email  

Gaucher Disease

Last updated: 2003-09-11

Gaucher disease Type 1 is the most prevalent Jewish genetic disease, occurring in one in every 1,000 Ashkenazi Jews.

During the last few years dramatic advances have been made, including DNA based diagnosis and carrier detection, as well as development of effective enzyme replacement therapy.

There are three clinical subtypes of Gaucher disease, which are distinguished by the absence or presence and severity of neurologic complications. Type 1 disease, which does not involve the nervous system, occurs with high prevalence among Ashkenazi Jews. Approximately 1 in every 12 Ashkenazi Jewish individuals is a carrier of a gene mutation that causes Gaucher Type 1. Type 2 disease is a fatal neurodegenerative disorder of infancy, similar to Tay-Sachs disease. Type 3 disease is a slowly progressive neurologic disease with survival into adulthood. The occurrence of type 2 or 3 Gaucher disease among Ashkenazi Jews is extremely rare, and the incidence of these subtypes is not increased beyond what is observed in other populations.

Gaucher disease an autosomal recessive disorder resulting from the deficiency of an enzyme, glucocerebrosidase. This enzyme deficiency leads to the progressive accumulation of a fatty substance, glucocerebroside, in "Gaucher cells." Gaucher cells are found particularly in the liver, spleen, and bone marrow. The gene for glucocerebrosidase has been isolated on chromosome 1, and several different gene mutations have been identified among Ashkenazi Jews. Measurement of the enzyme level and/or direct demonstration of gene mutations enable the diagnosis of affected individuals. Carrier screening and prenatal diagnosis can be performed by gene mutation analysis. The latter is made possible by using tissue obtained from either CVS or amniocentesis.

In Type 1 Gaucher disease, symptoms most frequently begin in adulthood, but may begin in childhood or adolescence. Bone marrow involvement can cause bone and joint pain, fractures, and other orthopedic problems. Involvement of the spleen and liver cause enlargement of these organs as well as blood abnormalities such as anemia, easy bruising, and impaired blood clotting. The manifestations in individual patients vary. Some may suffer from chronic ill health, while others may experience few, if any, of the disease manifestations. It is important that patients be followed by physicians who are experts in the diagnosis, management, and treatment of Gaucher disease.

Until recently, the complications of Gaucher disease have been managed by appropriate medical and/or surgical intervention. However, ongoing treatment with glucocerebrosidase has been shown to effectively reverse most of the clinical manifestations in affected patients. This treatment has proven safe and effective and there are many patients currently receiving enzyme replacement therapy. The Mount Sinai Comprehensive Gaucher Disease Treatment Center represents the single largest clinic in the world devoted to the diagnosis and treatment of Gaucher disease.