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Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.

There are three types:

  • Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age.
  • Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
  • In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.

Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.

NIH: National Institute of Neurological Disorders and Stroke

Symptoms of Gaucher Disease

The following features are indicative of Gaucher Disease:
  • bone pain and fractures
  • cognitive impairment
  • easy bruising
  • enlarged spleen
  • enlarged liver
  • fatigue
  • heart valve problems
  • lung disease
  • seizures
  • severe swelling at birth
  • skin changes

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Common Causes of Gaucher Disease

The following are the most common causes of Gaucher Disease:
  • mutations in the GBA gene

Risk Factors for Gaucher Disease

The following factors may increase the likelihood of Gaucher Disease:
  • Eastern or Central European Jewish people

Prevention of Gaucher Disease

No, it is not possible to prevent Gaucher Disease.
  • mutations in GBA gene
  • autosomal recessive inheritance

Occurrence of Gaucher Disease

Number of Cases

The following are the number of Gaucher Disease cases seen each year worldwide:
  • Not common between 50K - 500K cases

Common Age Group

Gaucher Disease can occur at any age.

Common Gender

Gaucher Disease can occur in any gender.

Lab Tests and Procedures for Diagnosis of Gaucher Disease

The following lab tests and procedures are used to detect Gaucher Disease:
  • Blood tests: To measure the levels of the enzyme related with Gaucher's disease
  • Dual energy X-ray absorptiometry (DXA): To measure the bone density
  • Magnetic resonance imaging (MRI): To check whether the liver or spleen is enlarged

Doctor for Diagnosis of Gaucher Disease

Patients should visit the following specialists if they have symptoms of Gaucher Disease:
  • Geneticist
  • Hematologist

Complications of Gaucher Disease if untreated

Yes, Gaucher Disease causes complications if it is not treated. Below is the list of complications and problems that may arise if Gaucher Disease is left untreated:
  • growth delays in children
  • obstetric and gynecological problems
  • cancer
  • Parkinson's disease

Procedures for Treatment of Gaucher Disease

The following procedures are used to treat Gaucher Disease:
  • Enzyme replacement therapy: Replaces the deficient enzyme with artificial ones
  • Bone marrow transplant: Remove the blood-forming cells that have been damaged by Gaucher disease
  • Spleen removal: Treats the Gaucher disease

Alternative Medicine for Treatment of Gaucher Disease

The following alternate medicine and therapies are known to help in the treatment or management of Gaucher Disease:
  • Intake velaglucerase alfa supplements: Intake of these enzymes as supplement helps in treating Gaucher disease

Patient Support for Treatment of Gaucher Disease

The following actions may help Gaucher Disease patients:
  • Genetic counseling: Beneficial for affected individuals and their families in coping with the disease

Time for Treatment of Gaucher Disease

While time-period of treatment for each patient may vary, below is the typical time-period for Gaucher Disease to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Gaucher Disease.

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