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PubMed This is a summary of 22 peer-reviewed journal articles Updated
Hematology

Is Gaucher Disease Treatment Safe During Pregnancy?

At a Glance

Enzyme replacement therapy (ERT) is safe and the standard of care for managing Gaucher disease during pregnancy. Oral substrate reduction therapy (SRT) is not recommended during pregnancy or breastfeeding. Patients on SRT should work with their doctor to switch to ERT before trying to conceive.

In this answer

3 sections

01

Enzyme Replacement Therapy (ERT) During Pregnancy

02

Substrate Reduction Therapy (SRT) During Pregnancy

03

The Risks of Stopping Treatment

If you are pregnant or planning to become pregnant, continuing treatment for Gaucher disease is crucial for both your health and your baby’s health. Enzyme replacement therapy (ERT) is considered safe and is the standard of care for pregnant women with Gaucher disease [1][2]. However, if you are currently taking substrate reduction therapy (SRT)—which consists of oral medications—you will need to work with your care team to switch to ERT. SRT is generally not recommended during pregnancy or breastfeeding due to a lack of safety data [3][4].

Enzyme Replacement Therapy (ERT) During Pregnancy

ERT—such as imiglucerase, velaglucerase alfa, and taliglucerase alfa—is the preferred and safest way to manage Gaucher disease during pregnancy and while breastfeeding [3][1][2]. While comprehensive clinical trials in pregnant women are naturally limited, extensive clinical experience shows that ERT is safe for both mother and baby [5][6].

Women taking ERT during pregnancy have rates of healthy, full-term births comparable to the general population [5]. Continuing your ERT infusions throughout pregnancy provides several critical benefits:

  • Prevents Disease Worsening: Pregnancy places extra metabolic stress on your body, and staying on ERT keeps your spleen and liver volumes stable [5][2].
  • Reduces Bleeding Risks: ERT helps maintain healthy platelet levels, which significantly lowers the risk of postpartum hemorrhage (heavy bleeding after delivery) [7][8].
  • Supports Healthy Blood Counts: By preventing anemia (low red blood cells), ERT reduces the likelihood that you will need blood transfusions during or after delivery [7][9].
  • Monitoring and Dose Adjustments: As your weight and blood volume naturally increase during pregnancy, your care team will closely monitor you. They may need to adjust your ERT dosage or infusion frequency to ensure the medication remains effective.

Because ERT is safe for maternal health and managing the disease, it is also supported for use while breastfeeding [5][7].

Substrate Reduction Therapy (SRT) During Pregnancy

Oral SRT medications, including eliglustat and miglustat, are generally contraindicated (not recommended) during pregnancy and lactation [3][4][10].

The primary reason for this is a lack of established safety data regarding how these medications might affect a developing fetus or a nursing infant [11][12]. SRT drugs are processed by the liver in ways that vary widely from person to person. Because individual differences in liver processing make the drug’s safety unpredictable during pregnancy, doctors advise against using it [11][13].

What if I get pregnant unexpectedly on SRT?

If you discover you are pregnant while taking SRT, clinical guidelines advise stopping the medication promptly [14][15]. Do not simply stop your medication without a plan. Contact your hematologist or metabolic specialist immediately. They will guide you on how to safely and quickly transition to ERT infusions so that you and your baby remain protected without experiencing a dangerous gap in your treatment.

Transitioning from SRT to ERT for Family Planning

If you are currently taking SRT and want to start a family, proactive family planning is essential.

  1. Schedule a Pre-Conception Consultation: Speak with your specialist well before you start trying to conceive [3].
  2. Plan a Washout Period: You will need to stop taking your SRT medication to allow it to fully clear from your system. Stopping the medication before conception is the clinical consensus [4][14].
  3. Stabilize on ERT: Your doctor will transition you to intravenous ERT [16][17]. It is important to ensure your Gaucher disease symptoms are fully stable on ERT before you get pregnant [17]. This entire transition process can take several months, so it is important to start early.

The Risks of Stopping Treatment

You might wonder if you can simply pause all your Gaucher disease treatments while pregnant. Medical experts strongly advise against leaving Gaucher disease untreated or undertreated during pregnancy [18][19].

Without medication, the physical demands of pregnancy can cause your Gaucher symptoms to flare up or worsen. Potential complications of untreated Gaucher disease during pregnancy include:

  • Severe thrombocytopenia (low blood platelets), which drastically increases the risk of life-threatening bleeding during childbirth [20][18].
  • Severe anemia, which can deprive both you and your baby of necessary oxygen and energy [9].
  • Increased risk of bone crises and deterioration of bone health, especially during the postpartum period [21][22].

Comparing Treatments During Pregnancy

Treatment Type Route of Administration Safety During Pregnancy & Breastfeeding Recommendation
ERT (e.g., imiglucerase, velaglucerase alfa) Intravenous (IV) Infusion Safe; extensive clinical experience shows healthy outcomes. Standard of Care. Continue use to prevent complications [5][1].
SRT (e.g., eliglustat, miglustat) Oral Safety not established; potential risks are unpredictable. Not Recommended. Transition to ERT before conception [3][4].

By actively managing your medication with your medical team, you can protect your health and optimize the chances of a safe, healthy pregnancy and delivery.

Common questions in this guide

Are Bisphosphonates Safe for Gaucher Disease Bone Loss?Do ERT or SRT Treat Gaucher Neurological Symptoms?Does Gaucher Disease Cause Growth Delays?Can Treatment Reverse Bone Damage in Gaucher Disease?How Is a Gaucher Disease Bone Crisis Treated in the ER?Will My Child Inherit Gaucher Disease?Do You Need a Bone Marrow Biopsy for Gaucher Disease?Is There a Cure or Gene Therapy for Gaucher Disease?Should Children With Gaucher Disease Avoid Contact Sports?Should Ashkenazi Jews Get Gaucher Carrier Screening?Gaucher Disease: Do I Need Multiple Myeloma Screening?What Is Oculomotor Apraxia in Type 3 Gaucher Disease?What Is the Parkinson's Risk With Gaucher Disease?What Blood Tests Are Used to Monitor Gaucher Disease?Why is a CYP2D6 Test Needed for Gaucher Disease SRT?
Is enzyme replacement therapy (ERT) safe during pregnancy?
Yes, enzyme replacement therapy is considered safe for both mother and baby. It is the standard of care for managing Gaucher disease during pregnancy and helps prevent complications like severe bleeding and anemia.
Can I take substrate reduction therapy (SRT) while pregnant?
Substrate reduction therapy medications, such as eliglustat and miglustat, are generally not recommended during pregnancy or breastfeeding. There is not enough safety data regarding how these oral medications might affect a developing baby.
What should I do if I get pregnant unexpectedly while taking SRT?
If you become pregnant unexpectedly while on SRT, contact your specialist immediately. They will guide you on safely stopping the medication and transitioning to ERT infusions to ensure continuous treatment without harming your baby.
Can I simply stop all my Gaucher disease treatments while pregnant?
Doctors strongly advise against leaving Gaucher disease untreated during pregnancy. Without medication, the physical demands of pregnancy can worsen your symptoms and dramatically increase the risk of serious complications like heavy bleeding during delivery.
Will my ERT dosage need to change while I am pregnant?
Your care team may need to adjust your ERT dosage or infusion frequency. As your weight and blood volume naturally increase during pregnancy, these dosage adjustments ensure the medication remains fully effective.

Questions for Your Doctor

5 questions

  • •How frequently will my platelet counts and hemoglobin be monitored during my pregnancy?
  • •Will my ERT dosage or infusion frequency need to increase as my blood volume and weight change during pregnancy?
  • •If I am currently on SRT, exactly how long of a washout period and stabilization period on ERT do you recommend before I start trying to conceive?
  • •Are home infusions an option for my ERT, especially in my third trimester when traveling to the clinic might be uncomfortable?
  • •How will you coordinate my Gaucher disease care with my OB/GYN or maternal-fetal medicine specialist for my delivery plan?

Questions for You

3 questions

  • •Have I noticed any recent changes in my Gaucher symptoms, such as increased fatigue, easy bruising, or bone pain, that I should report to my doctor?
  • •If I am taking oral SRT, have I discussed my family planning timeline with my partner and my medical team so we can start the transition process early?
  • •Am I mentally and practically prepared for the time commitment of transitioning from oral pills to regular IV infusions?

References

References (22)
  1. 1

    An Overview of Gaucher Disease.

    Méndez-Cobián DA, Guzmán-Silahua S, García-Hernández D, et al.

    Diagnostics (Basel, Switzerland) 2024; (14(24)) doi:10.3390/diagnostics14242840.

    PMID: 39767201
  2. 2

    Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options.

    Van Rossum A, Holsopple M

    Hospital pharmacy 2016; (51(7)):553-63 doi:10.1310/hpj5107-553.

    PMID: 27559188
  3. 3

    Spanish consensus on managing pregnancy in women with Gaucher disease.

    Calderón EJ, Rodríguez-Fernández A, Calderón-Baturone I, et al.

    Orphanet journal of rare diseases 2025; (20(1)):146 doi:10.1186/s13023-025-03684-6.

    PMID: 40155919
  4. 4

    Recommendations for oral treatment for adult patients with type 1 Gaucher disease.

    Torralba-Cabeza MÁ, Morado-Arias M, Pijierro-Amador A, et al.

    Revista clinica espanola 2022; (222(9)):529-542 doi:10.1016/j.rceng.2022.02.008.

    PMID: 35676195
  5. 5

    Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry.

    Revel-Vilk S, Deegan P, Day-Salvatore D, et al.

    Journal of inherited metabolic disease 2026; (49(2)):e70161 doi:10.1002/jimd.70161.

    PMID: 41714274
  6. 6

    Response to Letter to the Editor on "Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options".

    Van Rossum A, Holsopple M

    Hospital pharmacy 2017; (52(11)):727-728 doi:10.1177/0018578717737135.

    PMID: 29276249
  7. 7

    Risk of postpartum hemorrhage in multiparous women with Gaucher disease: A call for reconsidering enzyme replacement therapy in all pregnant patients.

    Cohen Y, Frydman D, Rotem R, et al.

    Journal of inherited metabolic disease 2021; (44(5)):1165-1173 doi:10.1002/jimd.12382.

    PMID: 33829536
  8. 8

    Clinical features and infection risks of Chinese children with different types of Gaucher disease.

    Gan C, Wu Y, Qin T

    Frontiers in pediatrics 2025; (13()):1595394 doi:10.3389/fped.2025.1595394.

    PMID: 40980139
  9. 9

    Gaucher disease carrier with gestational thrombocytopenia and anemia: a case report.

    Sugiura T, Fujiwara A, Yo T, et al.

    Journal of medical case reports 2022; (16(1)):203 doi:10.1186/s13256-022-03388-6.

    PMID: 35562809
  10. 10

    How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations.

    Ruskin JN, Ortemann-Renon C, Msihid J, et al.

    Molecular genetics and metabolism 2020; (131(1-2)):211-218 doi:10.1016/j.ymgme.2020.09.003.

    PMID: 33012655
  11. 11

    Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1.

    Vu L, Cox GF, Ibrahim J, et al.

    Molecular genetics and metabolism reports 2020; (22()):100552 doi:10.1016/j.ymgmr.2019.100552.

    PMID: 31993325
  12. 12

    Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series.

    Serratrice C, Swiader L, Serratrice J

    Journal of medical case reports 2015; (9()):146 doi:10.1186/s13256-015-0617-5.

    PMID: 26100396
  13. 13

    Type 1 Gaucher disease (CYP2D6-eliglustat).

    Becquemont L

    Therapie 2017; (72(2)):323-326 doi:10.1016/j.therap.2016.09.019.

    PMID: 28242126
  14. 14

    Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials.

    Lukina E, Balwani M, Belmatoug N, et al.

    JIMD reports 2021; (57(1)):76-84 doi:10.1002/jmd2.12172.

    PMID: 33473343
  15. 15

    Effect of eliglustat on the pharmacokinetics of digoxin, metoprolol, and oral contraceptives and absorption of eliglustat when coadministered with acid-reducing agents.

    Thibault N, Ibrahim J, Peterschmitt MJ, et al.

    Molecular genetics and metabolism 2020; (129(4)):278-285 doi:10.1016/j.ymgme.2020.01.001.

    PMID: 32029355
  16. 16

    Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

    Balwani M, Burrow TA, Charrow J, et al.

    Molecular genetics and metabolism 2016; (117(2)):95-103.

    PMID: 26387627
  17. 17

    Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe.

    Belmatoug N, Di Rocco M, Fraga C, et al.

    European journal of internal medicine 2017; (37()):25-32 doi:10.1016/j.ejim.2016.07.011.

    PMID: 27522145
  18. 18

    Gaucher Disease: Clinical, Biological and Therapeutic Aspects.

    Dandana A, Ben Khelifa S, Chahed H, et al.

    Pathobiology : journal of immunopathology, molecular and cellular biology 2016; (83(1)):13-23 doi:10.1159/000440865.

    PMID: 26588331
  19. 19

    Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report.

    Bohara S, Bhattarai S, Khadka M, et al.

    Annals of medicine and surgery (2012) 2024; (86(11)):6780-6783 doi:10.1097/MS9.0000000000002566.

    PMID: 39525705
  20. 20

    Gaucher Disease for Hematologists

    Özdemir GN, Gündüz E

    Turkish journal of haematology : official journal of Turkish Society of Haematology 2022; (39(2)):136-139 doi:10.4274/tjh.galenos.2021.2021.0683.

    PMID: 35439918
  21. 21

    Changes in Angiogenesis and Bone Turnover Markers in Patients with Gaucher Disease Developing Osteonecrosis.

    D'Amore S, Poole KE, Ramaswami U, et al.

    Metabolites 2024; (14(11)) doi:10.3390/metabo14110601.

    PMID: 39590837
  22. 22

    Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation.

    Herrera S, Pérez-López J, Moltó-Abad M, et al.

    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017; (32(7)):1575-1581 doi:10.1002/jbmr.3121.

    PMID: 28263001

This page provides general educational information about Gaucher disease treatments during pregnancy. Always consult your obstetrician and metabolic specialist or hematologist for medical advice tailored to your specific pregnancy and treatment needs.

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