Gaucher's (go-SHAYZ) disease occurs when certain harmful fatty substances accumulate to excessive levels in your liver, spleen, lungs, bone marrow and, less commonly, brain. This accumulation of fatty material in tissues interferes with how your body works and may cause organ enlargement and bone pain.
Gaucher's disease is caused by a deficiency of the enzyme glucocerebrosidase, which helps the body process the fatty substance glucocerebroside. The disease is sometimes called glucocerebrosidase deficiency.
Gaucher's disease can occur at any age. It's most common in Jewish people of Eastern and Central European descent (Ashkenazi).
Treatment for Gaucher's disease may involve enzyme replacement and other therapies.
Signs and symptoms of Gaucher's disease can vary widely depending on the type of the disease and the person affected. Siblings, even identical twins, with the disease may have different levels of severity.
The major types of Gaucher's disease and associated symptoms are:
When to see a doctor
The cause of Gaucher's disease is a deficit of the enzyme glucocerebrosidase. This enzyme normally breaks down fatty substances (lipids) called glucocerebrosides. When the enzyme is scarce, however, the fatty substances can build up in your brain and other organs, and within your bone marrow.
Gaucher's disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher's genetic mutation for their child to develop the condition. So far, researchers have noted more than 300 genetic mutations associated with Gaucher's disease. Even when both parents are carriers, there's still only a 25 percent chance that their child will develop the disease, compared with a 50 percent chance of their child being an unaffected carrier, and a 25 percent chance of his or her not being a carrier and not having the disease.
Autosomal recessive inheritance pattern
To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one ...
The risk of having type 1 Gaucher's disease or being a carrier is higher if you're of Eastern or Central European Jewish (Ashkenazi) ancestry. Types 2 and 3 can occur in any ethnic group, except for a certain form of type 3 that's more common in people of Swedish descent.
A family history of any type of Gaucher's disease increases the risk of being either a carrier of Gaucher's or of developing the disease.
All types of Gaucher's disease tend to be progressive. Possible complications depend on the type of Gaucher's disease.
Complications of all types
Complications of type 2
As these problems progress and become more severe, they can become debilitating and lead to death.
Complications of type 3
Preparing for your appointment
You're likely to start by seeing your family doctor, a general practitioner or a pediatrician, depending on your age. However, you may then be referred to a doctor who specializes in blood disorders (hematologist). Depending on the type of complications you experience, you may also need to consult other doctors, such as a doctor who specializes in brain and nervous system disorders (neurologist).
Here's some information to help you get ready for your appointment, and to know what to expect from your doctor.
What you can do
Preparing a list of questions may help you make the most of your time with your doctor. For Gaucher's disease, some basic questions to ask your doctor include:
Don't hesitate to ask any other questions that occur to you.
What to expect from your doctor
Tests and diagnosis
Making the diagnosis
Tracking the progression
Preconception screening and prenatal testing
For pregnant women who are carriers of the Gaucher's gene, doctors may recommend prenatal testing for genetic mutations that can determine whether the fetus is at risk of Gaucher's disease. Tests that evaluate cells in the amniotic fluid (amniocentesis) or evaluate tissue from the placenta (chorionic villus sampling) can detect all types of Gaucher's in the fetus. If you're considering one of these tests, ask your doctor for a referral to a genetic counselor who can help you look at the risks and benefits.
Treatments and drugs
Some people with type 1 disease have such mild symptoms that they may not need treatment. There's no specific treatment for type 2 Gaucher's disease.
To treat type 1 or 3 Gaucher's disease, your doctor may recommend:
Coping and support
Having any chronic illness can be difficult, but having a rare disease like Gaucher's may be even harder. Few people know about the disease, and even fewer understand the challenges you face. You may find that talking to someone else who has the disease or has a child with Gaucher's is helpful.
The National Gaucher Foundation has a mentor program that connects people who have the disease. To find out more you can visit its website or call 800-504-3189. Additionally, your doctor may know if there are any local support groups in your area.
Last Updated: 2011-07-08
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