Because Gaucher disease is a genetic disorder, all close relatives of people with Gaucher disease are at risk of having the disease or of being potential carriers of the “Gaucher gene.” Families with a history of Gaucher disease may want to discuss the possibility of genetic testing with their physicians.
Carrier status can be determined by analyzing a person’s DNA. Prenatal testing for Gaucher disease is also available early in pregnancy. Genetic counseling is available to couples who are found to be carriers or who have a family history of Gaucher disease. For more information about genetic counseling, visit the website of the National Society of Genetic Counselors.
Gaucher cells accumulate and displace healthy normal cells in bone marrow and organs such as the liver and spleen. This accumulation causes a host of signs, including skeletal deterioration, anemia, and organ dysfunction.
Diagnosis and Testing
Doctors diagnose Gaucher disease by using a simple blood test called an enzyme assay. The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase in white blood cells or skin cells. Individuals who are affected with Gaucher disease will have very low levels of enzyme activity. However, the assay cannot determine disease severity. Learn more in Diagnosing and Testing »