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Gaucher Disease and Reproductive Health

Living with a chronic hereditary condition like Gaucher disease can be complex. Among its challenges: having Gaucher disease or having a family member with the condition may affect how you approach family planning. If you’re living with Gaucher disease, you’re not alone. Having any inherited condition means you may want to seek out expert guidance to protect your health and the health of your children.

A prospective parent may feel overwhelmed, but expert care can help answer questions and assure optimal health care for both mother and baby.

To gain some perspective, we spoke to Pramod K. Mistry, MD, PhD, FRCP, director of the Yale Gaucher Center for Lysosomal Diseases and Professor of Pediatrics and Medicine at Yale School of Medicine. Dr. Mistry is a board-certified internal medicine doctor. For the past 30 years, he has been treating people affected by Gaucher disease across multiple continents, including many who have had successful pregnancies. He is a National Gaucher Foundation medical advisory board member and a board member of several national and international groups studying Gaucher disease and its diverse manifestations, including effects on the liver, spleen, and bones.

How Families May Pass on Genetic Conditions

Rare diseases affect millions of Americans. Gaucher disease is one such rare disease, and it is among a group of conditions that are more common among the Ashkenazi Jewish population.  Because of this relative prevalence, it’s especially important to educate not only Jewish people but others at risk for genetic conditions about their reproductive health.  

All human beings are carriers of dozens of genetic diseases. When two carriers for the same condition, such as Gaucher disease, plan a pregnancy, there is a 1 in 4 chance of the baby being affected. The likelihood of Gaucher disease in the baby increases to 1 in 2 if one parent has Gaucher disease and the other is a carrier of Gaucher disease. Learn more about Gaucher disease inheritance and genetics.

How a Genetic Condition Affects Your Reproductive System

Different inherited genetic conditions can have different effects on the body’s systems, including reproduction. Symptoms of Gaucher disease include bone loss and an enlarged liver and spleen, among other problems.

Research has shown that Gaucher disease may affect the reproductive system by causing:

  • Later puberty (in children of any sex)
  • Delayed menarche (start of periods)
  • Heavy periods (menorrhagia)

Intravenous enzyme replacement therapy (ERT), which people receive via infusion, and oral substrate reduction therapy (SRT), taken by mouth, reverse and prevent many of the effects of type 1 Gaucher disease. These therapies help the visceral (organ-related) symptoms associated with Gaucher disease, including for people with type 2 and type 3 Gaucher disease. Types 2 and 3, which are rarer in the United States, involve currently untreatable neurological symptoms in addition to physical signs.

In Dr. Mistry’s study of ongoing research and his own practice, Gaucher disease doesn’t appear to make it harder to conceive a child. However, “There clearly seems to be an increased risk of miscarriages in untreated women. And the more severe the mutation or symptoms, the higher the risk of miscarriage.”

Gaucher disease doesn’t seem to affect the reproductive system’s hormonal function. Dr. Mistry says that for those seeking to prevent pregnancy, it’s fine to use hormonal birth control methods like the pill.

Pregnancy and Gaucher Disease

In addition to the risk of miscarriage, pregnancy and Gaucher disease bring other potential health issues, such as:

  • Possible onset or worsening of Gaucher disease symptoms with pregnancy
  • Anemia (low levels of red blood cells needed to carry oxygen)
  • Thrombocytopenia (low blood platelet count, which can affect clotting) and bleeding complications
  • Enlarged spleen, which could interfere with fetal growth
  • Bone loss during breastfeeding, especially for longer than six months

“Because of these issues, reproductive health is a very important aspect of caring for people with Gaucher disease,” Dr. Mistry says. “It is one of our top priorities to help keep patients and their babies safe through pregnancy.”

Dr. Mistry says the issue of thrombocytopenia is particularly concerning. The condition can lead to more blood loss during delivery. In some cases, it causes severe bleeding that’s hard to stop (called postpartum hemorrhage) and requires blood transfusions. Receiving adequate enzyme treatment can reduce the risk of bleeding and the progression of Gaucher disease during pregnancy.

Is Gaucher Disease Treatment Safe During Pregnancy?

In a word, yes. ERT is well tolerated and safe during pregnancy. Women with Gaucher disease who receive treatment tend to have healthier pregnancies. And they have a lower risk of miscarriage and postpartum hemorrhage.

“Studies have shown it is safe, and we encourage continuing ERT throughout pregnancy,” Dr. Mistry says. “Some doctors feel more comfortable advising women to use ERT only during the second and third trimesters and have a break during the first trimester. But there is no real evidence that ERT affects conception or the first trimester of pregnancy.”

“ERT has three decades of data,” Dr. Mistry points out. “Over time, we’ve seen it’s clearly safe.”

For pregnant women with Gaucher disease who haven’t received treatment, most experts recommend considering ERT. Dr. Mistry describes this practice as standard of care worldwide because treatment reduces the risk of postpartum hemorrhage and other complications.

What about substrate reduction therapy and pregnancy?

SRT is a newer oral treatment for Gaucher disease. At this time, the Food and Drug Administration (FDA) has not approved SRT during pregnancy. If you are on SRT and become or plan to become pregnant, your doctor will help you switch to ERT. After pregnancy and breastfeeding, you can return to SRT.

Specialized Care During Pregnancy

Throughout pregnancy, Dr. Mistry recommends expectant mothers receive continual monitoring from a Gaucher disease expert.

“The state of pregnancy itself appears to lead to an acceleration of Gaucher disease symptoms and signs,” he explains.

These changes may include:

  • Falling white cell, platelet, and hemoglobin count
  • Worsening anemia
  • Further enlargement of the spleen
  • Poor bone health

Your Gaucher specialist-OB team

When providing health care for women around pregnancy, Dr. Mistry partners with Kristen Lawrence, MD, BA, MSCE, a maternal-fetal specialist who takes care of women with high-risk pregnancies. Your Gaucher disease program may be multidisciplinary, including maternity specialists. Otherwise, your Gaucher specialist may be able to partner, as Dr. Mistry does, with your local OB-GYN. This type of multidisciplinary care is essential to provide good health outcomes for the mother and the baby.

Close monitoring of Gaucher disease can help ensure you receive the appropriate treatment and dosage. The team’s care might include:

  • Blood platelet counts
  • Monitoring hemoglobin levels
  • Monitoring levels of blood biomarkers, such as chitotriosidase and glucosylsphingosine
  • Regular telehealth or in-person visits to monitor Gaucher disease
  • Ultrasound scans to assess spleen size

Labor and delivery with Gaucher disease

Particularly because of their risk of hemorrhage, expectant mothers with Gaucher disease need to deliver in a hospital with complete care capabilities, Dr. Mistry says. That rules out home birth and most birthing centers.

“Even if your platelet count has been good, there are bleeding risks due to poor platelet function and coagulation abnormalities known to occur in Gaucher disease. The bleeding risk is sometimes surprisingly out of proportion to platelet counts. Therefore, you need a kind of care that can only be provided by high-risk OBs working in close collaboration with a Gaucher specialist.”

If you have continuing low platelet counts, your doctor will discuss risks associated with receiving epidural anesthesia. An epidural always has a slight risk of bleeding. The treatment involves an injection into the space around your spinal cord. Bleeding in that area can be dangerous. With Gaucher disease, that bleeding risk may increase and needs expert evaluation. Your doctor may recommend alternative pain management methods depending on your evaluation.

In addition to your platelet counts, specialized tests can help predict your risk of bleeding during delivery, Dr. Mistry suggests. Generally, hematologists regard a platelet count under 100 as posing a possible bleeding risk. But platelet function improves on ERT. A more sophisticated test, thromboelastography, tests the blood’s ability to clot (coagulability). It provides quick results that tell your doctor about your blood’s coagulability—even during labor and delivery. And it can guide health care providers in administering platelets or clotting factors to reduce a mother’s bleeding risk.

Gaucher Disease and Breastfeeding

Mothers with Gaucher disease don’t appear to have issues with breastfeeding. And ERT doesn’t seem to pass to a baby in breast milk.

Whether breastfeeding is healthy for the new parent with Gaucher disease is another question. For anyone, breastfeeding brings a risk of bone problems due to the high demand for calcium. A breastfeeding mother can lose up to 7% of her bone density, although it usually returns after breastfeeding ends. Therefore, Dr. Mistry says, it is important to monitor bone health during and after pregnancy.

For someone with low bone density due to Gaucher disease, this bone loss could be problematic. The bone density doesn’t rebound as it does in someone without Gaucher disease. For that reason, many doctors recommend people with Gaucher disease breastfeed for no longer than six months. Be sure to discuss your breastfeeding plan with your doctor.

Genetic Screening: What Couples Should Know

All of this information might make family planning intimidating. But your Gaucher specialist can help you work through all the information, understand your risk, and make an informed decision.

An important part of risk management is understanding your baby’s risk of having Gaucher disease. Gaucher specialists are sensitive to the emotion regarding this topic. But obtaining expert advice can put to rest many of the fears people have.

“In many people with Ashkenazi Jewish background, a mutation called N370S is very prevalent. Affected people can vary widely in their signs and symptoms, from mild to severe effects of Gaucher disease. Therefore, regular monitoring by a Gaucher specialist plays an important role in helping manage your child’s health.”

The experts you consult with can determine your and your partner’s status and whether you have Gaucher disease or are a carrier for Gaucher disease (having one version of a gene mutation). A genetic counselor is an integral part of the team who helps you understand the specific mutation and what it might mean for children.

“For every parent, the health of their loved one is the most important, and the mother’s health and safety is also paramount,” Dr. Mistry says. “Today, even in certain communities where there is a strong overlay of tradition, the new generation of patients in the 21st century want to get tested and then decide how to handle that genetic information.”

What About IVF and PGD?

For families where both parents have the N370S mutation, Dr. Mistry would counsel a couple to talk to their Gaucher team about next steps. When mutations other than N370S are present, the Gaucher specialist will pay particular attention to the type of mutations and type of Gaucher disease that could result.

Some families may wish to confirm that their children are born without the gene mutations that cause Gaucher disease. Modern medical technology offers many options to protect the health of your baby without being unduly fearful.

You may opt to:

  • Conceive a baby and have prenatal tests to learn the baby’s risk
  • Use in vitro fertilization (IVF) with donor eggs or sperm
  • Use IVF and have preimplantation genetic diagnosis (PGD) to transfer only embryos without Gaucher disease
  • Use a surrogate mother and donor sperm

At-Home and In-Clinic Genetic Screening

The American College of Obstetricians and Gynecologists (ACOG) provides general guidelines for carrier screening before or during pregnancy. Most OB-GYNs perform this type of screening if your ancestry indicates a possible risk. Find out more about prenatal screening and genetic counseling for Gaucher disease.

Another option to consider is at-home testing. One nonprofit company, JScreen, offers simple, at-home screening for more than 200 conditions, including Gaucher disease, as well as genetic counseling pertaining to the screening. However, some testing organizations only screen for a limited number of genetic conditions, specifically those that are fatal. Most do not provide genetic counseling as part of the screening. Find out what you should know about at-home genetic and ancestry testing kits.

In Illinois, Missouri, New Jersey, and some New York hospitals, your newborn will be tested for Gaucher disease, among many other genetic conditions. Other states don’t routinely test babies for Gaucher disease. Learn more about testing for Gaucher disease.

How the National Gaucher Foundation Can Help

Throughout your lifetime of living with Gaucher disease, the National Gaucher Foundation is here for you. We offer resources to optimize your health with Gaucher disease and connect you with the support you need.

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