Gaucher Disease

What is Gaucher Disease?

Gaucher disease is an inherited condition in which the body fails to properly produce a particular enzyme needed to break down a fatty substance called glucocerebroside. Without this enzyme, glucocerebroside and several other associated substances will build up in the body causing a wide range of symptoms.

There are five main types of Gaucher disease, each with different manifestations. These types are described below.

Type 1

Type 1 is the most common form of the disease. It can affect people at any age and its symptoms vary widely from mild to severe.

Many people with type 1 Gaucher disease have symptoms related to their bones. Symptoms may include bone pain, low bone mineral density, and an increased risk for fractures. On the mild end of the spectrum, some people experience only a small drop in their bone mineral density. In more severe cases, blood supply to the bones is lost, leading to permanent damage. Bone problems are often the most debilitating aspect of the disease.

People with type 1 Gaucher disease often have an enlarged liver and spleen. They may also have a lowered number of red blood cells and platelets. With fewer red blood cells (anemia), a person with the disease will often be tired and weak. Fewer platelets in the blood will make him or her more prone to bruising and excessive bleeding. Lung disease is another possible symptom.

Type 1 is distinct from other forms of Gaucher disease in that it usually does not affect the individual’s brain or spinal cord.

Type 2

Type 2 is known as the infantile or acute neuropathic form of Gaucher disease. Symptoms usually appear before age 2 and progress rapidly. Children with type 2 Gaucher disease have some of the symptoms of type 1. These may include enlarged liver and spleen, lowered number of red blood cells (anemia) leading to weakness and tiredness, lowered number of platelets leading to bleeding and bruising, and lung disease.

While type 2 is distinct from types 1 and 3 in that it does not cause bone problems, type 2 does cause neurological problems. Neurological symptoms often include limited cognitive and motor development, brainstem abnormalities that can cause breathing problems and difficulty swallowing, constant arching of the back and tilting back of the head, uncontrollable tightening and releasing of the muscles, and an inability to open the mouth. As the nervous system deteriorates, children with type 2 Gaucher may develop dementia and the inability to coordinate his or her own movement.

In severe cases, death may occur in utero or shortly before or after birth. In most cases, lifespan is shortened to 2 to 4 years.

Type 3

Type 3 Gaucher disease is known as the juvenile or chronic neuropathic form. Symptoms often begin before age 2, though this is variable. Usually the symptoms associated with type 3 progress more slowly than with type 2. While some people with type 3 Gaucher disease die in childhood, others can live into their 30s or 40s.

People with type 3 Gaucher disease have the symptoms of type 1. These may include enlarged liver and spleen, lowered number of red blood cells (anemia) leading to weakness and tiredness, lowered number of platelets leading to bleeding and bruising, lung disease, and bone problems including include pain, fractures, and arthritis.

As with type 2, type 3 Gaucher disease also causes neurological problems. These may include seizures which worsen over time, progressive cognitive problems, and difficulty controlling eye movement. Towards the end of their lives, people with type 3 may also develop dementia.

Perinatal-Lethal Form

The perinatal-lethal form is a rare but severe form of Gaucher disease. This form usually leads to death in utero or shortly after birth. Infants with the disease have symptoms including enlarged liver and spleen, lowered number red blood cells and platelets, neurological problems, skin abnormalities, and often distinct facial features.

Cardiovascular Form

As the name implies, the cardiovascular form of Gaucher disease causes symptoms involving the heart, notably a hardening of the mitral and aortic valves. If this symptom is severe, heart valve replacement may be required. In addition, the cardiovascular form causes symptoms including slightly enlarged liver and spleen, bone problems including pain, fractures, and arthritis, as well as difficulty controlling eye movement and a clouding of the eye’s cornea, which can affect vision. The cardiovascular form of the disease is sometimes called type 3C.

How Common is Gaucher Disease?

Type 1 Gaucher disease is the most common form of this disease. This type is particularly prevalent among people of Ashkenazi Jewish descent, of whom 1 in 855 is affected by the disease and 1 in 16 is a carrier. In the general population, researchers believe that about 1 in 50,000 will be affected.

Other forms of Gaucher disease are more rare. Type 2 occurs in roughly 1 in 100,000 births. A form of type 3 is most common among people in the Norrbottnian region of Sweden, where 1 in 50,000 are affected.

How is Gaucher Disease Treated?

Enzyme replacement therapy (ERT) is one of the mainstays for treating Gaucher disease. ERT is given by infusion twice a month and helps eliminate the buildup of glucocerebrosides in the body. For many affected individuals, ERT is effective in treating disease symptoms and preventing complications, particularly bone and organ damage. ERT does not improve or prevent the neurological symptoms found in types 2 and 3.

Currently, FDA-approved enzyme replacement therapies in the U.S. include Cerezyme®, Elelyso® and VPRIV®. Cerdelga is an FDA-approved oral therapy. Zavesca® is another oral therapy that is approved for adult patients who cannot tolerate ERT. Other therapies are currently under investigation.

People with the cardiovascular form of Gaucher disease often need heart valve replacements, after which ERT can be helpful.

Additional treatments for the symptoms of Gaucher disease include blood transfusions for tiredness and excessive bleeding, joint replacement to relieve pain and restore movement, and medication to treat bone pain.

What is the prognosis for a person with Gaucher Disease?

Because symptoms of Gaucher disease vary widely in type and severity, both among the different types and among people with the same type, the outlook is similarly varied. The prognosis for an individual with Gaucher disease depends on the type of Gaucher, the severity in that particular individual, and the availability and effectiveness of treatment.

Those with a milder form of type 1 are expected to have a normal lifespan, particularly if therapy is administered when necessary. Some individuals with severe cases of type 1 Gaucher may have debilitating symptoms that are more difficult to manage.

Those with type 2 Gaucher disease often have significant developmental delays and die between the ages of 2 and 4. In the most severe type 2 cases, death may occur before or shortly after birth.

People with type 3 Gaucher disease usually develop symptoms in childhood which slowly worsen over time. While some have died in childhood, others have lived into their 30s and 40s.

For those with the cardiovascular form of the disease, the prognosis depends upon the success of valve replacement surgery.

With the perinatal-lethal form, death occurs before or shortly after birth.

Women with milder cases of Gaucher disease can have successful pregnancies.

  • Genetics Home Reference
    Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government’s National Institutes of Health.

  • National Gaucher Foundation
    A non-profit that promotes research, education, and awareness for Gaucher disease and supports patients with the disease and their families.

    2227 Idlewood Road, Suite 12
    Tucker, GA 30084
    Phone: (800) 504-3189
  • National Tay-Sachs and Allied Diseases Association
    A non-profit dedicated to the treatment and prevention of Tay-Sachs and related genetic diseases, including Gaucher disease. Its website has many types of information as well as online message boards.

    2001 Beacon St. Suite 204
    Boston, MA 02135
    Phone: (800) 906-8723
    [email protected]
Other Names for Gaucher Disease
  • Kerasin Thesaurismosis
  • Kerasin Lipoidosis
  • GBA Deficiency
  • Glucosylceramidase Deficiency
  • Gaucher Disease
  • Acid Beta-Glucosidase Deficiency
  • Glucocerebrosidase Deficiency
  • Cerebroside Lipidosis Syndrome
  • Gauchers Disease
  • Gaucher’s Disease
  • Gaucher Splenomegaly
  • Gaucher Syndrome
  • Glucocerebrosidosis
  • Glucosylceramide Beta-glucosidase Deficiency
  • Glucosylceramide Lipidosis
  • Glucosyl Cerebroside Lipidosis
  • Kerasin Histiocytosis


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Source: Counsyl.