Gaucher disease is a type of lysosomal storage disorder called a sphingolipidosis. It is caused by a buildup of glucocerebrosides in tissues. Children who have the infantile form usually die within 2 years, but children and adults who develop the disease later in life may survive for many years. Gaucher disease occurs when parents pass on to their children the defective gene that causes this disease.
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 medications.
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 1 copy of the abnormal gene. Because usually 2 copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. Some hereditary metabolic disorders are X-linked, which means only 1 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. Although Gaucher disease is the most common sphingolipidosis, there are many types of sphingolipidoses.
In Gaucher disease, glucocerebrosides, which are a product of fat metabolism, accumulate in tissues.
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.
Types of Gaucher Disease
Type 1 Gaucher disease, is the most common form of Gaucher disease and can begin from childhood to adulthood. This type is most common among people of Ashkenazi Jewish ancestry. It results in growth failure, delayed puberty, 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 this type 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.
Diagnosis of Gaucher Disease
Prenatal screening tests
Newborn screening tests
Analysis of blood cells
Sometimes biopsy or analysis of DNA
Before birth, Gaucher disease can be diagnosed in the fetus by using the prenatal screening tests chorionic villus sampling or amniocentesis.
After birth, Gaucher disease may be diagnosed by routine newborn screening tests in some states in the United 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 sometimes 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.
Treatment of Gaucher Disease
For types 1 and 3, enzyme replacement therapy and sometimes medications
Some people may have their spleen removed (splenectomy). Some people may also need blood transfusions.
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.
More Information
The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
National Gaucher Foundation: A resource providing support, research, and diagnosis and treatment information for people who have Gaucher disease
Jewish Genetic Disease Consortium (JGDC): A resource for people of Jewish ancestry who want to undergo carrier screening for certain genetic diseases
National Organization for Rare Disorders (NORD): This resource provides information to parents and families about rare diseases, including a list of rare diseases, support groups, and clinical trial resources.
Genetic and Rare Diseases Information Center (GARD): This resource provides and easy to understand information about rare or genetic diseases.
