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Gaucher Disease

(Gaucher's Disease)

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
Click here for the Professional Version

Gaucher disease is a type of lysosomal storage disorder Overview of Lysosomal Storage Disorders Lysosomal storage disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. There are different... read more 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 the defective gene Genes 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 Genes that causes this disease on to their children.

  • 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.

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

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 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 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.

There is no treatment for type 2.

More Information about Gaucher Disease

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Preventive Health Care Visits in Infants
Frequent doctor visits are recommended for all infants younger than 1 year of age. These visits, also called well-child visits, make it possible to check development, look for health problems, provide age-appropriate vaccinations, and educate parents. Which of the following is a condition that might affect some infants born very prematurely, with less than 32 weeks of development in the uterus?
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