Pregnancy and Ehlers-Danlos Syndrome

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Ehlers-Danlos Syndrome (EDS) is a group of hereditary connective tissue disorders characterized by joint hypermobility, skin fragility, and varying degrees of tissue fragility. Among the 13 recognized subtypes, Classical EDS (cEDS), Hypermobile EDS (hEDS), and Vascular EDS (vEDS) are the most commonly encountered in pregnancy. Managing pregnancy in individuals with EDS requires careful planning, as the condition increases risks for both the mother and baby. A multidisciplinary approach tailored to the unique challenges of each subtype is essential to optimize care and outcomes.

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Ehlers-Danlos Syndrome and Pregnancy Basics

EDS manifests as a spectrum of connective tissue disorders, presenting with features such as:

• Joint Hypermobility: Increased risk of joint instability, particularly in weight-bearing joints.
• Skin Fragility: Greater susceptibility to tearing, bruising, and delayed wound healing.
• Vascular Fragility: Heightened risk of bleeding and arterial rupture, particularly in vEDS.

During pregnancy, these issues may be exacerbated by hormonal changes, weight gain, and increased vascular demand. A multidisciplinary care approach is essential for managing these risks and ensuring the best possible outcomes for both mother and baby.

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Misconceptions About Pregnancy with EDS

Pregnancy with EDS is often surrounded by myths and misconceptions that can lead to unnecessary fear and confusion. Addressing these misconceptions is essential for providing accurate information and empowering individuals to make informed decisions.

Many believe that individuals with EDS cannot have children, but the reality is that many successfully conceive, carry, and deliver children with proper care and planning. Another common myth is that pregnancy will always worsen EDS symptoms. However, the impact of pregnancy varies; some individuals experience worsening symptoms, while others report little to no change or even improvement due to hormonal influences. Additionally, concerns about genetic inheritance often lead to the misconception that every child of a parent with EDS will inherit the condition. In truth, EDS is typically inherited in an autosomal dominant manner, meaning each child has a 50% chance of inheriting the condition. Genetic counseling and prenatal testing can provide families with valuable information about their options.

By debunking these misconceptions, individuals with EDS can approach pregnancy with confidence, supported by accurate knowledge and comprehensive care.

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Pregnancy in EDS: General Considerations

Genetic Counseling

EDS follows an autosomal dominant inheritance pattern, meaning there is a 50% chance of passing it to offspring. Genetic counseling and prenatal testing options, such as preimplantation genetic diagnosis (PGD), help families make informed decisions about reproductive planning.

Maternal Complications

Maternal risks include joint instability, pelvic girdle pain, and varicose veins. Cardiovascular concerns, such as mitral valve prolapse and aortic dilation, may arise, particularly in vascular subtypes. A proactive approach to monitoring and managing these complications is critical.

Fetal Risks

Fetal risks include preterm delivery, intrauterine growth restriction (IUGR), and floppy infant syndrome. Close monitoring throughout pregnancy is essential to address potential complications and optimize outcomes.

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Pregnancy Complications in EDS

Hypermobility in Pregnancy

Hormonal changes, particularly the effects of relaxin, can exacerbate joint instability, contributing to pain and mobility challenges. Pelvic floor dysfunction is also common, potentially leading to incontinence or prolapse.

EDS-Related Pregnancy Complications

• Miscarriage and Fetal Loss: Rates may be higher in EDS pregnancies, although they vary by subtype.
• Preterm Birth: Cervical insufficiency and preterm premature rupture of membranes (PPROM) are significant concerns.
• Postpartum Hemorrhage: Elevated risk due to vascular and uterine fragility.
• Placental Complications: Issues such as insufficiency, abruption, and poor attachment may occur.
• Skin Changes: Severe stretch marks and other pronounced skin changes are common due to connective tissue abnormalities.

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Managing EDS During Pregnancy

Managing EDS during pregnancy requires a comprehensive and proactive approach to address the unique challenges posed by this condition. With careful planning and the involvement of a multidisciplinary team, many of the risks associated with EDS can be mitigated to ensure better outcomes for both the mother and the baby. This management spans antenatal care, delivery planning, and postpartum recovery.

Antenatal care involves regular ultrasounds and cervical length monitoring to assess fetal growth and identify potential issues like cervical insufficiency early. Managing comorbidities such as Postural Orthostatic Tachycardia Syndrome (POTS) is particularly vital for individuals with hEDS, as these conditions can exacerbate pregnancy-related symptoms. Pain management strategies, including physiotherapy, safe exercises, and acupuncture, play a crucial role in maintaining joint stability and reducing discomfort throughout pregnancy.

Intrapartum care focuses on minimizing risks during labor and delivery. Tailored delivery plans should account for tissue fragility and potential complications such as uterine rupture or excessive bleeding. Using less invasive labor positions can reduce the likelihood of joint dislocations, while close monitoring during delivery ensures timely interventions if complications arise.

Postpartum care emphasizes recovery and long-term health. Physical therapy for pelvic floor rehabilitation and core strengthening is essential to aid recovery and prevent issues like pelvic organ prolapse. Regular follow-ups allow healthcare providers to monitor for delayed wound healing and vascular complications, ensuring that any concerns are addressed promptly.

By addressing these aspects of care holistically, individuals with EDS can navigate pregnancy and postpartum recovery with greater safety and confidence.

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EDS Pregnancy Delivery Options

Delivery Planning

Mode of delivery should be tailored to the patient’s EDS subtype and overall risk factors. Vaginal delivery may be suitable for less severe cases, while cesarean delivery is often preferred for those with significant tissue or vascular fragility. Epidurals and other forms of regional anesthesia are generally safe but must be administered with caution due to potential issues with dural tears or spinal instability.

Complications During Delivery

• Uterine Rupture: Increased risk due to connective tissue fragility.
• Perineal Tears: Women with EDS are more prone to severe perineal injuries, often requiring advanced suturing techniques.

Strategies for Safer Labor:

• Scheduled cesarean deliveries in high-risk cases.
• Use of absorbable or non-absorbable sutures to reduce complications from poor wound healing.

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Postpartum Care for EDS Mothers

Recovery Challenges

Hormonal fluctuations postpartum can worsen joint instability, pain, and fatigue. Postpartum depression is also more common in women with EDS, necessitating mental health support.

Physical Therapy and Lifestyle Adjustments

Pelvic floor exercises and joint-strengthening programs help reduce the risk of long-term complications like pelvic organ prolapse and chronic pain. Lifestyle adjustments, including ergonomic tools and practical parenting strategies, are essential for managing physical demands.

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Specific Considerations for Pregnancy with Specific Types of EDS

Pregnancy in Hypermobile Ehlers-Danlos Syndrome

Overview of hEDS

Hypermobile EDS (hEDS) is the most prevalent subtype of Ehlers-Danlos Syndrome, accounting for 80–90% of diagnosed cases. It is estimated to affect 0.75–2% of the general population, though many individuals remain undiagnosed due to overlapping symptoms with hypermobility spectrum disorders (HSD).

Key features include:

• Joint Hypermobility: Leading to frequent dislocations and instability, which can become more pronounced during pregnancy.
• Tissue Fragility: Often resulting in poor wound healing or increased bruising, making recovery more challenging.
• Comorbid Conditions: Conditions such as Postural Orthostatic Tachycardia Syndrome (POTS), Mast Cell Activation Syndrome (MCAS), and gastrointestinal issues are commonly seen, adding layers of complexity to pregnancy and postpartum care.

While these challenges can seem overwhelming, it’s important to note that many individuals with hEDS experience successful pregnancies. With the right care team and management plan, the journey can be navigated more safely.

Pregnancy Outcomes in hEDS

Pregnancy with hEDS often brings a mix of hope and uncertainty. While many individuals achieve favorable outcomes, unique challenges may arise:

• Increased Pelvic Girdle Pain and Joint Dislocations: Hormonal changes, particularly the effects of relaxin, can increase joint laxity, making it difficult to manage mobility and discomfort.
• Postpartum Pelvic Organ Prolapse: Pelvic floor dysfunction is a common concern, but proactive rehabilitation can help mitigate long-term effects.
• Preterm Birth and Miscarriage: Though generally less common than in vascular EDS, cervical insufficiency increases the risk, underscoring the importance of regular monitoring and early intervention.

Management and Delivery Recommendations

Navigating pregnancy with hEDS requires individualized care and a supportive healthcare team to address the unique needs of each person.

• Antenatal Care:
  Regular cervical monitoring is essential to identify and manage cervical insufficiency early. Managing comorbidities like POTS and MCAS through coordinated care can prevent additional complications. Pelvic stabilization techniques, such as support belts and physiotherapy, offer relief and support as the body changes.
• Intrapartum Care:
  Delivery plans should prioritize safety while preserving a sense of control for the individual. Pain relief methods, including carefully administered epidurals, can provide comfort while accounting for the fragility of tissues like the dura. Techniques to support the perineum during delivery help reduce the risk of tearing, which can complicate recovery.
• Postpartum Care:
  Recovery doesn’t end at delivery. Early pelvic floor rehabilitation, managed by a knowledgeable physical therapist, is key to reducing the risk of prolapse and supporting long-term health. Additionally, ongoing care for chronic pain and associated conditions ensures that new parents can focus on their families with fewer physical limitations.

Unique Considerations

Pregnancy and postpartum recovery can take a toll physically and emotionally, but support and planning make a world of difference:

• Fatigue and Chronic Pain: These can worsen postpartum, making multidisciplinary support critical for recovery. Physical therapy, pain specialists, and mental health providers are valuable parts of the care team.
• Anxiety and Depression: The emotional impact of pregnancy with hEDS can be significant. Access to mental health care, along with a strong support system, helps build resilience during this vulnerable time.
• Breastfeeding: While breastfeeding is generally safe, ergonomic adjustments may be needed to accommodate joint instability in the shoulders and arms, ensuring the comfort of both parent and baby.

Remember, the challenges of hEDS during pregnancy are real, but they don’t have to define the experience. With the right care and support, many parents with hEDS find joy and fulfillment in their pregnancy and parenting journeys.

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Pregnancy in Vascular Ehlers-Danlos Syndrome

Overview of vEDS

Vascular Ehlers-Danlos Syndrome (vEDS) is a rare but serious form of EDS, affecting an estimated 1 in 50,000–200,000 individuals. This subtype represents about 5–10% of EDS cases and is associated with life-threatening complications due to extreme fragility of arterial walls, uterine tissue, and internal organs.

For individuals with vEDS, pregnancy can feel especially daunting. The risks involved are significant, but proactive planning, specialized care, and support make it possible to navigate this journey more safely.

Pregnancy Outcomes in vEDS

The reality of pregnancy with vEDS can be emotionally challenging, but understanding the risks can help with preparation and decision-making:

• Maternal Mortality: Approximately 5.7% of pregnancies in individuals with vEDS result in maternal death, often due to arterial or uterine rupture. These risks highlight the importance of delivering in a facility equipped to handle emergencies.
• Prematurity: About 8.8% of pregnancies result in preterm delivery, often due to complications like preterm premature rupture of membranes (PPROM). Though difficult, these outcomes are often manageable with skilled neonatal care.

Management and Delivery Recommendations

Every individual with vEDS deserves compassionate, expert care tailored to their needs:

• Scheduled Cesarean Section: Planning delivery between 35 and 37 weeks significantly reduces risks of labor-induced arterial or uterine rupture. Ensuring access to vascular surgeons and high-risk obstetric care during delivery provides critical safeguards.
• Postpartum Monitoring: The postpartum period is a time of heightened vulnerability, as complications like delayed arterial dissections can occur weeks after delivery. Regular imaging and close follow-up with a vascular specialist are essential to ensure recovery.

Genetic Counseling

A 50% chance of passing vEDS to offspring can weigh heavily on family planning decisions. Genetic counseling offers a safe space to explore options, from prenatal genetic testing to preimplantation genetic diagnosis (PGD). This process helps families make informed, thoughtful decisions about their future.

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Pregnancy with Hypermobility  (e.g. HSD, JHS, BJH)

Pregnancy can be an intricate experience for individuals with connective tissue disorders, particularly those with hypermobility syndromes such as Joint Hypermobility Syndrome (JHS), Hypermobility Spectrum Disorders (HSD), and Benign Joint Hypermobility Syndrome (BJHS). While often grouped with hypermobile Ehlers-Danlos Syndrome (hEDS) due to overlapping symptoms, hypermobility syndromes generally pose fewer systemic risks compared to EDS subtypes with vascular or severe systemic involvement. Understanding the distinctions between these conditions is crucial for tailoring care and anticipating potential challenges during pregnancy.

Key Differences: EDS vs. HSD and other Hypermobility Syndromes

• Ehlers-Danlos Syndrome (EDS): Involves a range of subtypes, some of which, like vascular EDS, carry life-threatening risks such as arterial rupture or uterine complications. hEDS has significant overlap with HSD but includes specific diagnostic criteria and more frequent systemic comorbidities like dysautonomia and gastrointestinal issues.
• Hypermobility Spectrum Disorders (HSD): Represents a broader category of joint hypermobility with fewer systemic complications than EDS. While individuals with HSD may share symptoms like joint pain and instability, they are less likely to experience the connective tissue fragility seen in EDS.
• Joint Hypermobility Syndrome (JHS) and BJHS: Historically used to describe joint hypermobility with associated symptoms like pain and instability, these terms often apply to individuals without systemic involvement. These conditions generally carry fewer pregnancy-related risks compared to EDS subtypes.

Pregnancy Considerations For Hypermobile Women

1. Joint Instability and Pain:
   • In all hypermobility conditions, pregnancy hormones like relaxin and progesterone increase joint laxity, leading to heightened joint instability. This effect is often more pronounced in individuals with HSD and JHS but does not typically escalate to life-threatening risks.
2. Pelvic Girdle Pain (PGP):
   • PGP is common in pregnancy due to increased instability in the sacroiliac joints and pubic symphysis. It affects individuals with all hypermobility syndromes but tends to be manageable with physical therapy and supportive devices.
3. Labor and Delivery:
   • For individuals with HSD or JHS, labor and delivery are generally low-risk, with no absolute indication for cesarean section. However, joint positioning during labor should be carefully managed to minimize strain or dislocation.
   • Unlike vascular EDS, where cesarean delivery is often recommended to prevent arterial or uterine rupture, individuals with HSD or JHS may pursue vaginal delivery unless other complications arise.
4. Postpartum Recovery:
   • Postpartum healing may be slower in individuals with any hypermobility syndrome due to connective tissue laxity, particularly in cases of perineal tearing or cesarean wounds. Early physical therapy is beneficial for improving recovery outcomes.

Unique Challenges in Hypermobility Syndromes

• Cervical Insufficiency: Cervical laxity, a concern in both hEDS and hypermobility syndromes, may increase the risk of preterm labor. Regular monitoring during pregnancy can mitigate this risk.
• Pelvic Floor Dysfunction: Weakness in the pelvic floor muscles is a shared challenge across hypermobility conditions, potentially leading to incontinence or prolapse postpartum. Targeted pelvic floor exercises during and after pregnancy are critical.
• Fatigue and Pain Management: Hypermobile individuals may experience heightened fatigue and musculoskeletal pain due to the physical demands of pregnancy. These challenges often require a combination of pacing, supportive devices, and gentle strengthening exercises.

The Risks Are Lower For Hypermobiility Compared to EDS

While EDS subtypes like vascular EDS present high risks for pregnancy-related complications, hypermobility syndromes, including HSD and JHS, are generally associated with lower systemic risks. Individuals with HSD or JHS are less likely to experience severe complications like uterine rupture or major vascular events. Instead, their pregnancy challenges often center on joint instability, musculoskeletal pain, and postpartum recovery.

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EDS and Parenthood

Adaptive Parenting Strategies

Parenting with EDS requires creative solutions to address physical limitations and chronic pain. Ergonomic tools, modified routines, and supportive caregiving strategies help individuals balance parenting responsibilities with their health needs.

Emotional and Psychological Considerations

Fears about genetic inheritance and the ability to parent with chronic conditions are common. Emotional support, counseling, and community connections can help alleviate these concerns.

Community Support

Joining support groups provides a valuable source of shared experiences, practical advice, and emotional resilience for parents managing EDS.

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Conclusion

Pregnancy with Ehlers-Danlos Syndrome presents unique challenges but is manageable with a personalized, multidisciplinary approach. By addressing misconceptions, empowering families with accurate information, and advocating for improved research and care, individuals with EDS can experience safer pregnancies and fulfilling parenthood.
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FAQ

What are the complications associated with EDS and pregnancy?

Pregnancy with EDS can involve complications such as joint instability, preterm delivery, cervical insufficiency, postpartum hemorrhage, and vascular or uterine fragility, depending on the subtype.

Are stretch marks more common in Ehlers-Danlos pregnancies?

Yes, individuals with EDS are more prone to severe stretch marks (striae gravidarum) due to the fragility and reduced elasticity of their connective tissue.

How does EDS affect pain during pregnancy?

Pregnancy can exacerbate joint instability and pain in individuals with EDS, particularly due to hormonal changes that increase ligament laxity.

What should I know about hypermobile Ehlers-Danlos Syndrome (hEDS) and pregnancy?

hEDS pregnancies are generally favorable but may involve challenges like pelvic girdle pain, joint dislocations, and a higher risk of pelvic organ prolapse postpartum.

Does hypermobility worsen during pregnancy?

Yes, hypermobility often worsens during pregnancy due to hormonal effects, particularly from relaxin, which increases joint laxity.

Can EDS symptoms worsen after pregnancy?

EDS symptoms, particularly joint instability and pain, can worsen postpartum due to hormonal shifts and physical strain during delivery.

What are the delivery options for individuals with Ehlers-Danlos Syndrome?

Delivery planning depends on the EDS subtype. Vaginal delivery may be possible for some, but cesarean delivery is often recommended in vascular EDS due to the risk of uterine or arterial rupture.

Is Ehlers-Danlos Syndrome considered a high-risk pregnancy?

Yes, EDS pregnancies are often considered high-risk due to complications like joint instability, preterm delivery, and tissue fragility. Close monitoring and specialized care are essential.

What should people with EDS avoid during pregnancy?

Individuals with EDS should avoid excessive physical strain, activities that risk joint dislocation, and any interventions that may exacerbate tissue fragility without medical guidance.

Are miscarriages common with EDS?

Miscarriages are more common in certain EDS subtypes, particularly in cases with cervical insufficiency or vascular fragility, such as in vEDS.

Can Ehlers-Danlos Syndrome cause weight gain during pregnancy?

While EDS itself does not directly cause weight gain, pregnancy-related changes in mobility and lifestyle may lead to weight gain that feels more significant due to joint and pain issues.

Does EDS affect facial appearance during pregnancy?

EDS may lead to increased bruising or visible veins on the face due to fragile connective tissue but does not typically cause significant facial changes during pregnancy.

Why do people with EDS often feel fatigued?

Chronic fatigue in EDS results from a combination of joint instability, chronic pain, and comorbid conditions like POTS or MCAS, which can worsen during pregnancy.

Should people with Ehlers-Danlos Syndrome have children?

The decision to have children is personal and should involve genetic counseling and medical consultations to understand the risks and plan for a safe pregnancy and delivery.

What gynecological issues are associated with Ehlers-Danlos Syndrome?

EDS can contribute to pelvic organ prolapse, cervical insufficiency, and painful menstruation, which may influence pregnancy and postpartum recovery.

Is it safe to get an epidural with EDS?

Epidurals are generally safe for individuals with EDS but require careful administration due to potential risks like dural tears or complications from tissue fragility.

Does hypermobility get worse with pregnancy?

Yes, hormonal changes during pregnancy, particularly the release of relaxin and progesterone, can increase joint laxity, potentially worsening symptoms like joint instability, pelvic girdle pain, and musculoskeletal discomfort.

Is it easier to give birth if you're hypermobile?

While hypermobility can provide greater flexibility in the pelvic joints, which may facilitate labor, it can also increase the risk of joint instability or dislocations during delivery. Proper positioning and support during labor are essential to minimize complications.

Is hypermobility bad for pregnancy?

Hypermobility itself is not inherently bad for pregnancy, but it can increase risks of pelvic girdle pain, joint instability, and pelvic floor dysfunction. With proactive management and support, most individuals with hypermobility have successful pregnancies.

Does hypermobility make childbirth easier?

Increased joint flexibility from hypermobility may ease certain aspects of labor, such as pelvic expansion. However, it can also increase the risk of joint strain or dislocations, requiring careful management during delivery to ensure safety.

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References

• Blagowidow, N. (2021). Obstetrics and gynecology in Ehlers-Danlos syndrome: A brief review and update. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 187(4), 593–598. https://doi.org/10.1002/ajmg.c.31945
• Karthikeyan, A., & Venkat-Raman, N. (2018). Hypermobile Ehlers-Danlos syndrome and pregnancy. Obstetric Medicine, 11(3), 104–109. https://doi.org/10.1177/1753495X18754577
• Pearce, G., Bell, L., Magee, P., & Pezaro, S. (2023). Co-created solutions for perinatal professionals and childbearing needs for people with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. International Journal of Environmental Research and Public Health, 20(20), 6955. https://doi.org/10.3390/ijerph20206955
• Pearce, G., Bell, L., Pezaro, S., & Reinhold, E. (2023). Childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A large international survey of outcomes and complications. International Journal of Environmental Research and Public Health, 20(20), 6957. https://doi.org/10.3390/ijerph20206957
• Pezaro, S., Brock, I., Buckley, M., Callaway, S., Demirdas, S., Hakim, A., Harris, C., High Gross, C., Karanfil, M., Le Ray, I., McGillis, L., Nasar, B., Russo, M., Ryan, L., & Blagowidow, N. (2024). Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines. PLOS ONE, 19(5), e0302401. https://doi.org/10.1371/journal.pone.0302401
• The VEDS Movement. (n.d.). Pregnancy and vascular Ehlers-Danlos syndrome. Retrieved from https://thevedsmovement.org/what-to-expect/pregnancy/