Gaucher disease occurs when the body lacks enzymes needed to break down glucocerebrosides.
Symptoms vary by type but may include liver, spleen, and bone problems.
The diagnosis is based on blood tests.
People who have types 1 and 3 Gaucher disease may be helped by enzyme replacement therapy and sometimes drugs.
Type 2 Gaucher disease causes premature death.
There are different types of inherited disorders. In many hereditary metabolic disorders, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. Some hereditary metabolic disorders Fabry Disease are X-linked, which means only one copy of the abnormal gene can cause the disorder in boys. (See also Overview of Hereditary Metabolic Disorders.)
Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many types of sphingolipidoses besides Gaucher disease, which is the most common:
In Gaucher disease, glucocerebrosides, which are a product of fat metabolism, accumulate in tissues. The disease is most common among Ashkenazi (Eastern European) Jews. Gaucher disease leads to an enlarged liver and spleen and a brownish pigmentation of the skin. Accumulations of glucocerebrosides in the eyes cause yellow spots called pingueculae to appear. Accumulations in the bone marrow can cause pain and destroy bone.
Type 1 Gaucher disease, the chronic form of Gaucher disease, is the most common and usually begins during childhood. It results in an enlarged liver and spleen and bone abnormalities. Type 1 Gaucher disease may lead to severe liver disease, including increased risk of bleeding from the stomach and esophagus and liver cancer.
Type 2 Gaucher disease is the rarest form. It occurs during infancy and usually causes death by age 2 years. Affected infants have an enlarged spleen and severe neurologic problems (such as seizures and rigid limbs).
Type 3 Gaucher disease, the juvenile form, can begin at any time during childhood. Children with type 3 disease have an enlarged liver and spleen, bone abnormalities, eye problems, and slowly progressive neurologic problems (such as dementia and lack of coordination [ataxia]). Children who survive to adolescence may live for many years.
After birth, Gaucher disease may be diagnosed by routine newborn screening tests in some states.
In older children and adults, doctors diagnose Gaucher disease by analyzing white blood cells. After analyzing blood cells, doctors can determine the type of Gaucher disease and can identify carriers of the disease. Carriers are people who have an abnormal gene for a disorder but who do not have symptoms or visible evidence of the disorder. Doctors remove samples from the liver, spleen, lymph nodes, bone marrow, or brain and examine them under a microscope (biopsy) to look for Gaucher cells. Analysis of DNA (the building blocks of genes) is being done more and more frequently.
Many people with types 1 and 3 Gaucher disease can be treated with enzyme replacement therapy (imiglucerase), in which enzymes are given by vein, usually every 2 weeks. Enzyme replacement therapy is most effective for people who do not have nervous system complications. People who receive enzyme replacement therapy need regular blood, imaging, and bone tests to monitor the effects of treatment.
People who are unable to receive enzyme replacement therapy may be given miglustat, a drug that reduces glucocerebroside in the body. Eliglustat is another drug that reduces glucocerebroside.
Bone marrow transplantation or stem cell transplantation does cure types 1 and 3. However, these procedures are considered last resorts because they may cause death or disability.
There is no treatment for type 2.