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Gaucher Disease

Gaucher disease is an inherited metabolic disorder known as a lipid storage disease. Lipid is the word used to describe the various types of fatty materials, such as cholesterol, in your body. Lipids are necessary for the systems in your body to function properly. When you have Gaucher disease, you’re missing an enzyme needed to break down lipids normally. The lipids collect in cells in certain organs, causing a range of symptoms. For example, if you have Gaucher disease, you may have an unusually large spleen and liver. The disease may also affect your lung, brain, eye, and bone function.

The wide variety of symptoms can actually hamper your doctor’s ability to make an accurate diagnosis. Gaucher disease is relatively rare, and doctors may first suspect other conditions. Anemia and related symptoms are fairly common complications of Gaucher disease. This may cause doctors to focus on your anemia instead of testing for Gaucher.

There are three subtypes of Gaucher disease:

  • Type 1. This is the most common type, affecting about 90 percent of people with Gaucher disease. If you have type 1, you will have low blood platelets and may become easily fatigued. Your symptoms can begin at any time in your life. You might have an enlarged liver or spleen, kidney or lung problems, or skeletal disorders.

  • Type 2. Symptoms begin by age 3 months. Those with type 2 usually die before age 2. This type causes liver and spleen enlargement.

  • 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.

Symptoms

For many people, symptoms begin in childhood. Symptoms of Gaucher disease can include:

  • Enlarged spleen

  • Enlarged liver

  • Eye movement disorders

  • Anemia

  • Fatigue

  • Bruising

  • Lung problems

  • Seizures

Who’s at risk

People of Ashkenazi Jewish descent have the greatest risk of developing this disease. Having a family member with Gaucher also increases your risk for it.

Diagnosis

To make a diagnosis, your doctor will consider:

  • Your overall health and medical history

  • Your description of symptoms

  • Your family medical history

  • A physical exam

  • Blood tests

Treatment

Gaucher disease treatment depends on the subtype and may include:

  • Enzyme replacement therapy, which is effective for types 1 and 3

  • Regular physical exams and bone density screening to monitor your disease

  • Bone marrow transplant

  • Surgery to remove your spleen

  • Joint replacement surgery

  • Blood transfusions

Complications

Complications are problems that your condition causes. They include:

  • Delayed growth

  • Delayed puberty

  • Weakened bones

  • Bone pain

  • Brain damage

  • Joint pain

  • Difficulty walking or getting around

  • Anemia

  • Fatigue

Prevention

If Gaucher disease runs in your family, talk with a doctor who specializes in genetics counseling to find out about your risk and the chances of passing on the disease to your children. Screening the siblings of someone with Gaucher disease could help diagnose the condition early enough for treatment to be helpful.

When to call the doctor

Call the doctor if you experience:

  • Dizziness

  • Loss of consciousness

  • Seizures

  • Difficulty breathing

  • Loss of mobility

  • Unusual fractures or bone pain

How to manage or live with the condition

Follow your doctor’s recommendations for taking care of yourself, including taking medications as prescribed. Go to recommended follow-up medical visits. Tell your doctor if you have new symptoms, such as joint pain or seizures, or if your treatment no longer allows you to manage your original symptoms.