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 Inheritance of Single-Gene Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . 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 are X-linked X-Linked Recessive Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more , which means only one copy of the abnormal gene can cause the disorder in boys. (See also Overview of Hereditary Metabolic Disorders Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems. Heredity is the passing of genes from one generation to the next. Children inherit their parents'... read more .)
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.
Types of Gaucher disease
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.
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 Chorionic Villus Sampling Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more or amniocentesis Amniocentesis Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more .
After birth, Gaucher disease may be diagnosed by routine newborn screening tests Newborn Screening Tests Many serious disorders that are not apparent at birth can nonetheless be detected by various screening tests. Early diagnosis and prompt treatment can reduce or prevent many disorders that may... read more 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 Carrier Screening Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Hereditary genetic disorders are disorders of chromosomes or... read more 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 DNA Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are structures within cells... read more (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 drugs
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.
Some people may have their spleen removed (splenectomy Overview of the Spleen The spleen, a spongy, soft organ about as big as a person’s fist, is located in the upper left part of the abdomen, just under the rib cage. The splenic artery brings blood to the spleen from... read more ). Some people may also need blood transfusions Overview of Blood Transfusion A blood transfusion is the transfer of blood or a blood component from one healthy person (a donor) to a sick person (a recipient). Transfusions are given to increase the blood's ability to... read more .
Bone marrow transplantation or stem cell transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more 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.
The following are some English-language resources that 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.