The National Gaucher Foundation has received several inquiries from people identified as carriers who are experiencing Gaucher disease (pronounced go-SHAY) symptoms. Many people are curious about whether or not Gaucher disease carriers can have symptoms.
The short answer is no, but it is possible that some people were misdiagnosed. This post explores how Gaucher disease works and what carrier status is. We also offer possible reasons why carriers might experience symptoms.
How Gaucher Disease Works
Gaucher disease is a genetic disorder in which patients do not have enough of a critical enzyme that breaks down glucocerebroside, a fatty chemical. Since the body cannot break it down, fat-laden cells called Gaucher cells accumulate in the organs and bone marrow.
Gaucher disease symptoms include:
- Swollen belly: Buildup of Gaucher cells in the spleen and/or liver causes the organs to become enlarged. This enlargement often results in a swollen, painful belly.
- Fragile, painful bones: Gaucher disease reduces mineral content of bones and weakens them. The disease also causes severe pain or “bone crisis” due to reduced blood flow to the bones.
- Anemia: Gaucher cells in bone marrow interfere with normal production of blood cells. This causes anemia, or low red blood cell counts.
- Bleeding problems: Low platelets, the blood cells responsible for clotting, cause frequent bleeding problems.
- Fatigue: Anemia causes fatigue, which is why many patients experience excessive tiredness on a regular basis. However, even non-anemic patients with Gaucher disease may have significant fatigue.
What Does It Mean If You Are a Carrier?
If you are a carrier, it means you do not have the disease but may pass the Gaucher gene to your children. Experts estimate that 1 in 10 Jews of Ashkenazi (Eastern European) descent and 1 in 200 in the general population are carriers.
Most genes come in pairs. For each pair, you get one gene from your mother and one from your father. When one gene in the pair is defective, you are a carrier. When both are defective, you will have Gaucher disease.
What are the chances your child will be a carrier or have Gaucher disease? It all depends on the genetic makeup of your partner:
- If your partner is not a carrier: Each child has a 50 percent chance of being a carrier, and a 50 percent chance of being unaffected.
- If your partner is also a carrier: Each of your children has a 25 percent chance of having Gaucher disease, a 50 percent chance of being a carrier and a 25 percent chance of being unaffected.
- If your partner has Gaucher disease: Each of your children has a 50 percent chance of having Gaucher disease and a 50 percent chance of being a carrier.
Learn more about Gaucher disease inheritance and genetics.
What if I’m a Carrier With Gaucher Disease Symptoms?
According to Gaucher disease experts, true carriers do not have symptoms. If genetic testing indicates that you are a carrier and you are experiencing symptoms of Gaucher disease, there are a couple of possible reasons:
- You may actually have Gaucher disease: Researchers have identified over 400 mutations associated with Gaucher disease. Older genetic screenings only looked for some of these, so it’s possible that the screening missed a mutation.
- Your symptoms may be related to something else: Many symptoms of Gaucher disease are also the result of other, more common, conditions.
Is Genetic Testing for Carrier Status Accurate?
A targeted mutation test will identify approximately 89 percent of Gaucher disease carriers. A sequencing test of the entire glucocerebrosidase (GBA) gene will uncover over 99 percent of carriers.
While genetic testing alone cannot always identify Gaucher disease, an enzyme test called a beta-glucosidase leukocyte (BGL) test will almost certainly show whether or not you have Gaucher disease. All patients with Gaucher disease will have low enzyme activity but the result can be unclear in very rare cases. In these instances, genetic testing can help clarify whether or not you have Gaucher disease.
Finding Testing Resources
For more information on testing for Gaucher disease, check out these resources:
- National Society of Genetic Counselors: The National Society of Genetic Counselors is an online directory where you can search for a genetic counselor in your area.
- Center for Jewish Genetics: The Center for Jewish Genetics is an educational resource for hereditary cancers and Jewish genetic disorders. The center offers subsidized genetic counseling and screening.
- JScreen: JScreen is a nonprofit public health initiative that provides easy home test kits for people of Jewish descent. Genetic counselors from Emory University School of Medicine assess the results and provide additional information and resources.
- Victor Center for the Prevention of Jewish Genetic Diseases: The Victor Center for the Prevention of Jewish Genetic Diseases provides affordable genetic counseling and screening for healthy people who are at risk of being carriers.
- Jewish Genetic Disease Consortium: The Jewish Genetic Disease Consortium is an alliance of nonprofits that encourages genetic screening for everyone who has any Jewish heritage.
Find out more about resources for Gaucher disease patients and families.