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What Are the Symptoms of Gaucher Disease?

By Deneatra Harmon
Updated May 17, 2024
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Symptoms of Gaucher disease may range from complications affecting the body’s organs to neurological disorders. The disorder may also cause mild or general symptoms, such as fatigue, anemia, and pain. Signs often vary depending on whether the person has Gaucher disease type 1, 2, or 3. This inherited, yet rare, disorder causes abnormal levels of fatty substances to accumulate in the body, causing harmful side effects. Depending on the severity of the condition, treatment may involve medications, therapy, or transplantation.

Besides symptoms of anemia, pain, and fatigue, symptoms of Gaucher disease vary depending on the age of onset and the type. Type 1 is a mild form of the genetic disorder that often occurs in adulthood. In some cases, symptoms may be mild enough to not require treatment. In other instances, type 1 symptoms range from bone thinning and fractures to an enlarged liver or spleen to nosebleeds and easy bruising of the skin.

Type 2 Gaucher disease is considered less common than the first, but may come with more serious symptoms. This stage of the genetic disease causes brain damage, seizures, and other neurological problems that can be fatal. Babies are often at risk of developing the disorder within the first few months of life.

Type 3 of the disease usually starts anywhere from adolescence through adulthood. Gaucher type 3 symptoms may include loss of muscle coordination, dementia, and vision changes. It can be as serious as type 2, but the symptoms progress over a longer period of time.

An enzyme deficiency primarily causes symptoms of Gaucher disease, which affects people at any age. The enzyme glucocerebrosidase normally processes a substance known as glucocerebroside into glucose and a fat known as ceramide. The chemical process occurs within the lysosomes of white blood cells called macrophages. Absence or a lack of the glucocerebrosidase enzyme interferes with normal chemical breakdown, and, in turn, the normal functions of the body. The presence of Gaucher disease may be evident when the fatty glucocerebroside builds up in the liver, lungs, and spleen, as well as the bone marrow and the brain.

Common treatments for Gaucher disease include therapy, medications, and other medical procedures. For types 1 and 3, the doctor may prescribe what is known as enzyme replacement therapy, which replaces glucocerebrosidase deficiency in the body. This particular treatment is usually administered through a vein every two weeks in an outpatient setting, and helps to prevent bone fractures as well as to treat an enlarged liver or spleen. An oral medication known as miglustat treats milder cases of type 1 Gaucher disease, while bone marrow transplantation for severe cases replaces blood cells damaged by the disorder.

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