Gaucher Disease

What is Gaucher disease?

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. Your spleen and liver may get very large and stop working normally. The disease can also affect your lungs, brain, eyes, and bones.

There are 3 types of Gaucher disease:

  • Type 1. This is the most common type of Gaucher disease. It affects about 90% of people with the disease. If you have type 1, you don’t have enough platelets in your blood. This can make you bruise easily and feel very tired (fatigued). Your symptoms can start at any age. You might have an enlarged liver or spleen. You may also have kidney, lung, or skeletal problems.
  • Type 2. This form of the disease affects babies by age 3 to 6 months. It is fatal. In most cases children don’t live beyond 2 years old.
  • Type 3. Symptoms include skeletal problems, eye movement disorders, seizures that become more obvious over time, blood disorders, breathing problems, and liver and spleen enlargement.

What causes Gaucher disease?

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.

What are the symptoms of Gaucher disease?

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

How is Gaucher disease diagnosed?

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.

How is Gaucher disease treated?

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

What are the complications of Gaucher disease?

Gaucher disease can cause other health problems such as:

  • Delayed growth
  • Delayed puberty
  • Weak bones
  • Bone pain
  • Brain damage
  • Joint pain
  • Trouble walking or getting around
  • Not having enough healthy red blood cells (anemia)
  • Extreme tiredness (fatigue)

What can I do to prevent Gaucher disease?

If Gaucher disease runs in your family, talk with a genetic counselor. He or she can help you find out your risk of having the disease. You may also learn your chances of passing on the disease to your children.

Testing the brother or sister of someone with Gaucher disease may help detect the disease early. This can help with treatment.

When should I call my healthcare provider?

Call your healthcare provider if you have any of these symptoms:

  • Feeling dizzy
  • Fainting
  • Seizures
  • Trouble breathing
  • Loss of mobility
  • Abnormal bone  fractures or bone pain

Call your provider if you have new symptoms, such as joint pain or seizures. Also let your provider know if your treatment is no longer helping to control your original symptoms.

Living with Gaucher disease

Follow your healthcare provider’s advice for taking care of yourself. Take your medicines as directed. Go to all of your follow-up medical visits.

Key points

  • It is a disorder passed from parents to children (inherited).
  • It causes fatty substances called lipids to build up in certain organs such as the spleen and liver.
  • Organs can become very large and not work well. It can also affect the lungs, brain, eyes, and bones.
  • It can be hard to diagnose because there are many different symptoms.
  • There is no cure, but treatment can help to control symptoms.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

  • Know the reason for your visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • Bring someone with you to help you ask questions and remember what your provider tells you.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
  • Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
  • Ask if your condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if you do not take the medicine or have the test or procedure.
  • If you have a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your provider if you have questions.

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