Gaucher Disease

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Overview

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver. This can cause many different symptoms.

Symptoms

Each person’s symptoms may vary. For many people, symptoms start in childhood. Some people have very mild symptoms.

Symptoms of Gaucher disease can include:

  • Enlarged spleen
  • Enlarged liver
  • Eye movement disorders
  • Yellow spots in the eyes
  • Not having enough healthy red blood cells (anemia)
  • Extreme tiredness (fatigue)
  • Bruising
  • Lung problems
  • Seizures

Causes

Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene.

It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher. Parents may have only 1 GBA gene and, therefore, not show any signs of the disease, but be carriers of the disease. Gaucher disease type 1 is most commonly found among Ashkenazi Jews who have a high number of carriers of the defective GBA gene.

Diagnosis

To make a diagnosis, your healthcare provider will look at your overall health and past health. He or she will give you a physical exam.

Your provider will also look at:

  • Your description of symptoms
  • Your family medical history
  • Blood test results

Because Gaucher disease has so many different symptoms, it can take time to get an accurate diagnosis.

Treatment

There is no cure for Gaucher disease. But treatment can help you control your symptoms.

Your treatment will depend on what type of Gaucher disease you have. Treatment may include:

  • Enzyme replacement therapy, which is effective for types 1 and 3
  • Medicines
  • Regular physical exams and bone density screening to check your disease
  • Bone marrow transplant
  • Surgery to remove all or part of your spleen
  • Joint replacement surgery
  • Blood transfusions