Gaucher Disease


The information provided below is for readers based in the United States of America. Readers outside of the United States of America should seek the information from local sources.

What is Gaucher disease?

Gaucher disease is a problem with components of cells called lysosomes, which accumulate chemical compounds called glycolipids. This can happen in tissues of a variety of organs, such as the liver, bones, spleen, brain, and spinal cord, resulting in a range of severities and disabilities, depending on which organs are affected. The glycolipids accumulate because the individual lacks an enzyme called glucocerebrosidase, which normally enables chemical degradation glycolipids inside the lysosomes. The person lacks the enzyme due to a genetic abnormality. Each of us carries two copies of the gene needed to make the enzyme, but we need only one working copy to make adequate supplies of the enzyme. The problem comes in when two parents get together, each of whom carries an abnormal copy of the gene. Such parents are carriers of the condition. Each time they conceive a child, there is a 25 percent chance that the child will receive two defective copies of the gene. Thus, Gaucher disease is known as a “recessive genetic condition.” As for the reason why a gene copy can be abnormal, dozens of different genetic mutations have been identified in the glucocerebrosidase gene.

How common is Gaucher disease during pregnancy?

There are several types of Gaucher disease, all of which are numbered. Types II and III are the rarest forms. Type I is the most common form and generally the least severe, as it usually does not affect the brain and spinal cord. Since it is more common than the other types, Gaucher disease type I is more common during pregnancy. Gaucher disease type I is particularly common among Ashkenazi Jews (Jews whose origin is in central and eastern Europe) and the difference in frequency of Gaucher disease between this population and non-Jews is striking. Whereas all types of Gaucher disease are rare among non-Jews, having an overall prevalence of 1 case per 40,000 people, about 1 in every 15 Ashkenazi Jews carry a gene for Gaucher disease type 1 and is, therefore, a carrier for the condition. In the same population, the presence of two Gaucher genes (and therefore the disease) shows up in 1 per 855 individuals. Meanwhile, Gaucher disease type III is most common among people from the Norrbottnian section of Sweden.

Since the gene that is defective is carried on autosomes, non-sex chromosomes, the incidence of the gene and disease is equal in males and females. Type I is usually recognized either in childhood or young adulthood, so it is fairly common among Ashkenazi Jewish women during pregnancy. Type III can be deadly during childhood or by young adulthood, but also can take a mild course, so it occurs occasionally among pregnant women. On the other hand, Gaucher disease type II tends to be very severe and progresses very rapidly, often with a fatal result in early childhood, or during fetal life.

How is Gaucher disease during pregnancy diagnosed?

Gaucher disease is a laboratory diagnosis. One way to do this is to measure the activity of the glucocerebrosidase enzyme white blood cells leukocytes from a sample of your blood. Activity measured at below 15 percent of the average activity of normal individuals is diagnostic, meaning that its enough information to conclude that you have the condition. The same method can be used to identify carriers, as they tend to have roughly the normal activity level. Additionally, there are tests for several different genetic mutations that if present can tell doctors that you have the disease, and also if youre a carrier.

Does Gaucher disease cause problems during pregnancy?

In some women, Gaucher disease can turn mild anemia, a common and mild condition during pregnancy, into a severe one. It can also reduce your number of platelets to the point of provoking postpartum bleeding, plus it puts mothers-to-be at risk of infection, and may possibly increase the risk of spontaneous abortion (miscarriage). Additionally, Gaucher disease can cause enlargement of certain internal organs, such as the liver and spleen. With a developing baby inside you at the same time, this can make your abdomen even more crowded than in a normal pregnancy. Despite all of this, most pregnancies of women with Gaucher disease are manageable and suffer no serious complications.

Does Gaucher disease during pregnancy cause problems for the baby?

If Gaucher disease is untreated and leads to serious bleeding problems or severe anemia, this can put the baby in jeopardy. Otherwise, there are few serious risks.

What to consider about taking medications when you are pregnant or breastfeeding:

  • The risks to yourself and your baby if you do not treat the Gaucher disease. These can be significant if your disease leads to bleeding and anemia.
  • The risks and benefits of each medication you use when you are pregnant.  
  • The risks and benefits of each medication you use when you are breastfeeding

What should I know about using medication to treat Gaucher disease during pregnancy?

The treatment is enzyme replacement therapy (ERT). The woman is given glucocerebrosidase, which generally reverses all complications of the disease. So long as your doctors know that you have the condition, the ERT is given on a long-term basis, including during pregnancy. It is not harmful to the developing baby since it is chemically the same as the enzyme that youre supposed to be making anyway, and which the baby is making too. A potential medication problem may come into play if you do not take your treatment and it leads to bleeding. In such cases, managing your bleeding becomes tricky.

Who should NOT stop taking medication for Gaucher disease during pregnancy?

Every pregnant woman who is taking ERT for Gaucher disease should NOT stop the treatment, particularly during pregnancy. There is no dilemma in this case. The disease puts the child at risk. The treatment does not.

What should I know about choosing a medication for my Gaucher disease during pregnancy?

Management of Gaucher disease is a straightforward issue of supplying the needed enzyme. In the years to come, however, it is likely that gene therapy will jump ahead of ERT as the treatment of choice for Gaucher disease.

You may find Pregistrys expert reports about the individual medications to treat this condition here. Additional information can also be found in the sources listed at the end of the report.

What should I know about taking a medication for my Gaucher disease when I am breastfeeding?

As with pregnancy, ERT supplies you with an enzyme that you are supposed to have in your blood under normal conditions. If it does get into your breastmilk, it will simply be degraded in the infants digestive tract.

What alternative therapies besides medications can I use to treat my Gaucher disease during pregnancy?

For the time being, there is no alternative to ERT; however, as mentioned above, gene therapy is a very likely treatment in the near future.

What can I do for myself and my baby when I have Gaucher disease during pregnancy?

Simply continue with your ERT and show up for your blood tests and fetal monitoring.

Resources for Gaucher disease in pregnancy:

For more information about Gaucher disease during and after pregnancy, contact (800-994-9662 [TDD: 888-220-5446]).


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Last Updated: 30-01-2020
General information

It is very common for women to worry about having a miscarriage or giving birth to a child with a birth defect while they are pregnant. Many decisions that women make about their health during pregnancy are made with these concerns in mind.

For many women these concerns are very real. As many as 1 in 5 pregnancies end in a miscarriage, and 1 in 33 babies are born with a birth defect. These rates are considered the background population risk, which means they do not take into consideration anything about the health of the mom, the medications she is taking, or the family history of the mom or the baby’s dad. A number of different things can increase these risks, including taking certain medications during pregnancy.

It is known that most medications, including over-the-counter medications, taken during pregnancy do get passed on to the baby. Fortunately, most medicines are not harmful to the baby and can be safely taken during pregnancy. But there are some that are known to be harmful to a baby’s normal development and growth, especially when they are taken during certain times of the pregnancy. Because of this, it is important to talk with your doctor or midwife about any medications you are taking, ideally before you even try to get pregnant.

If a doctor other than the one caring for your pregnancy recommends that you start a new medicine while you are pregnant, it is important that you let them know you are pregnant.

If you do need to take a new medication while pregnant, it is important to discuss the possible risks the medicine may pose on your pregnancy with your doctor or midwife. They can help you understand the benefits and the risks of taking the medicine.

Ultimately, the decision to start, stop, or change medications during pregnancy is up to you to make, along with input from your doctor or midwife. If you do take medications during pregnancy, be sure to keep track of all the medications you are taking.