Type 3. This type also affects the brain and spinal cord. The symptoms are similar to type 2 but usually show up later in childhood and take longer to get worse.
Perinatal lethal Gaucher's disease. This is the most severe type. An infant with this form usually lives only a few days. These symptoms are overwhelming for a newborn:
- Too much fluid in the baby’s body before or soon after birth
- Dry, scaly skin and other skin problems
- Enlarged liver and spleen
- Severe brain and spinal cord problems
Cardiovascular Gaucher's disease (type 3C). This is rare and mainly affects the heart. Its symptoms include:
- Hardening of the heart valves and blood vessels
- Bone disease
- Enlarged spleen
- Eye problems
Getting a Diagnosis
When you go to the doctor with symptoms, they might ask:
- When did you notice these symptoms?
- What's your family's ethnic background?
- Have past generations of your family had similar medical problems?
- Did any children in your extended family pass away before age 2?
If your doctor thinks it's Gaucher's disease, he or she can confirm that with a blood test. Your doctor will also do tests regularly to track the condition. You may have an MRI (magnetic resonance imaging) to see if your liver or spleen is swollen. You may also have a bone density test to check for any loss of bone.
When Gaucher's disease runs in your family, blood or saliva tests can help you find out if you could pass the disease to your child.
Questions for Your Doctor
- Will my symptoms change over time? If so, how?
- What treatments are best for me?
- Do these treatments have side effects? What can I do about them?
- Is there a clinical trial that could help?
- Are there new symptoms I should watch for?
- How often do I need to see you?
- Are there other specialists I should see?
- Does having this disease put me at risk for any others?
- Should I add my name to a Gaucher's disease registry?
- If I have more children, what are the chances they'll have Gaucher's disease?
Treatment depends on what type of Gaucher's disease you have.
Enzyme replacement therapy is one treatment option for people who have type 1 and some with type 3. It helps make more red blood cells and shrinks an enlarged spleen or liver. Enzyme replacement therapy medications may include:
- Cerezyme (imiglucerase for injection)
- Elelyso (taliglucerase alfa)
- VPRIV (velaglucerase alfa)
Another treatment option for type 1 is Cerdelga (eliglustat), an oral drug that inhibits the metabolic process that forms the fatty materials in patients with the enzyme deficiency.
There is no treatment that can stop type 3 from causing damage to your brain. Other treatments can help your symptoms, including:
- Blood transfusions for anemia
- Medications to strengthen your bones, prevent fatty buildup, and ease pain
- Joint replacement surgery to help you move better
- Surgery to remove a swollen spleen
- Stem cell transplant to reverse type 1 symptoms. This procedure is complicated and can cause both short-term and long-term problems, so it is rarely used.