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 certain types of fatty substances (lipids). These lipids can build up in organs such as your spleen and liver.

This condition 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. The most common type, affecting about 9 in 10 people with Gaucher disease. If you have type 1, you often don't have enough platelets in your blood. This can make you bruise easily and feel very tired (fatigued). Your symptoms can begin at any age. You might have an enlarged liver or spleen. You may also have kidney, lung, or skeletal problems. This type does not affect the nervous system.
  • 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. This type involves the nervous system.
  • 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 (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 not show any signs of the disease.

What are the symptoms of Gaucher disease?

Each person's symptoms may vary. For many people, symptoms begin 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
  • Bone pain and fracture

How is Gaucher disease diagnosed?

To make a diagnosis, your healthcare provider will do a physical exam and assess your overall health and health history.

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 be hard 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 works for types 1 and 3. This treatment involves IV (intravenous) infusion therapy every 2 weeks.
  • Medicines to treat your specific symptoms
  • Regular physical exams and bone density screening to check your disease
  • Bone marrow transplant
  • Surgery to remove your spleen
  • Joint replacement surgery
  • Blood transfusions

What are possible 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)
  • Increased risk of developing Parkinson disease

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 health care provider?

Call your health care 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 health care 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 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.
Medical Reviewer: Chad Haldeman-Englert MD
Medical Reviewer: Rita Sather RN
Medical Reviewer: Raymond Kent Turley BSN MSN RN
© 2000-2022 The StayWell Company, LLC. All rights reserved. This information is not intended as a substitute for professional medical care. Always follow your healthcare professional's instructions.
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