What is Gaucher disease?

If you have just found out that you or your child has Gaucher disease, it is only natural that you will have many questions and concerns about what to expect. This is a rare condition that can cause symptoms ranging from weakened bones to easy bruising.

Although there is no cure, it is important to remember that, depending on the type of illness, treatment may help you manage some of the symptoms.

Gaucher causes problems with how your body gets rid of certain types of fat. In all types of this disease, the enzyme needed to break it down does not work properly. Fat accumulates, especially in the liver, spleleften, and bone marrow, causing problems.

There are three main types of Gaucher disease. Type 1 is the most common. If you have it, your symptoms may be mild, moderate, or severe, but some people don't notice any problems. There are several treatments for type 1.

Types 2 and 3 are more serious. Type 2 affects the brain and spinal cord. Infants with type 2 usually do not live beyond 2 years of age. Type 3 also causes damage to the brain and spinal cord, but symptoms usually appear later in childhood.

Gaucher disease can have many symptoms, including bloating, bruising, and bleeding.

Your blood may not clot well, or you may be anemic. It can also cause bone mineral loss, leading to pain and easy fractures.

The disease is inherited - about 1 in 450 people of Ashkenazi Jewish origin (from Eastern and Central Europe) suffer from this disease. This is the most common genetic disease affecting Jews.

Whether you have the condition or are the parent of a sick child, it is important to get support to help you cope with the challenges ahead. Reach out to family and friends for the support you need. Ask your doctor to join a support group where you can meet other people who are going through the same thing as you.

Causes

Gaucher disease is not something that can be “contagious” like a cold or the flu. This is an inherited disease caused by a problem with the GBA gene.

You get sick when both parents pass on the damaged GBA gene to you. You can pass the defective gene on to your children even if you don't have Gaucher disease.

Symptoms

How you feel depends on the type of Gaucher disease you have.

Type 1. This is the most common form. It usually does not affect the brain or spinal cord.

Type 1 symptoms can appear at any point in your life, but they usually appear during adolescence. Sometimes the disease is mild and you will not notice any problems.

Some symptoms you may experience:

Easy bruising
Nosebleeds
Fatigue
Enlarged spleen or liver, which makes your belly look swollen
Bone problems like pain, breaks, or arthritis

Type 2. It affects the brain and spinal cord and is very serious. Babies with this form usually do not live beyond 2 years of age. Symptoms include:

Slow back-and-forth eye movement
Not gaining weight or growing as expected, called "failure to thrive"
High-pitched sound when breathing
Seizures
Brain damage, especially to the brain stem
Enlarged liver or spleen

Type 3. This type also affects the brain and spinal cord. Symptoms are similar to type 2, but usually appear later in childhood and take longer to worsen.

Lethal perinatal Gaucher disease

This is the heaviest type. An infant with this form usually only lives a few days. These symptoms are overwhelming for a newborn:

Too much fluid in the baby's body before or soon after he's born
Dry, scaly skin and other skin problems
Enlarged liver and spleen
Severe brain and spinal cord problems

Cardiovascular Gaucher disease (type 3C)

It is rare and mostly affects your heart. You may have symptoms such as:

Hardening of the heart valves and blood vessels
Bone disease
Enlarged spleen
Eye problems

Getting a diagnosis

When you go to your doctor, he might ask:

When did you notice your 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 disease, they can confirm it with a blood or saliva test. He will also do regular tests to keep track of the condition. You may have an NMR scan to see if your liver or spleen is swollen. You can also have a bone density test to check for bone loss.

When Gaucher disease runs in your family, blood or saliva tests can help you determine if you can pass the disease on to your child.

Questions for the doctor

Will my symptoms change over time? If so, how?
Which 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 disease registry?
If I have more children, what are the chances they'll have Gaucher disease?

Treatment

The type of treatment depends on the type of Gaucher disease.

Enzyme replacement therapy is an option for people with type 1 and some with type 3. It helps reduce anemia and reduce enlargement of the spleen or liver.

Enzyme replacement therapy drugs may include:

Imiglucerase
Taliglucerase alfa
Velaglucerase alfa

Other drugs for treating type 1 are eliglustat (Cerdelga) and miglustat (Zavesca). These are pills that stop the process of fat formation in the body with a lack of enzymes.

No treatment can prevent type 3 brain damage, but researchers are always looking for new ways to fight the disease.

Other treatments that may relieve your symptoms include:

Blood transfusions for anemia
Medications to strengthen your bones, prevent the buildup of fat, 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's rarely used.

What to expect

Since each person's illness is different, you should consult with your doctor to make sure you are receiving the proper treatment. Treatment can help you feel better and live longer.

You may consider participating in a clinical trial. Scientists are using them to study new treatments for Gaucher disease. These trials test new drugs to make sure they are safe and work. They are often a way to try new drugs that are not available to everyone. Your doctor can tell you if any of these tests are right for you.

If your child is Gaucher, he may not grow as fast as other children. He may be late for puberty.

Depending on your symptoms, you may need to avoid contact sports or limit your activity. Some people suffer from severe pain and fatigue. It may take extra effort to be active. However, small things can make a big difference. For example, wheelchairs or crutches can help you when you have difficulty walking. Daytime naps are also helpful.

If you have severe symptoms, you may need regular care and be unable to live on your own.

Whether you have a medical condition or are caring for someone with it, it's hard to deal with. When you get support from other people facing the same problems, it can help you feel less isolated. Sharing information and advice can make your daily life easier.

Consider getting professional advice. It can also help you deal with your feelings and frustrations about Gaucher disease.