By on June 21, 2016

What is Ehlers Danlos Syndrome?

Ehlers Danlos syndrome refers to a group of genetic disorders of connective tissue, primarily the skin, joints, and blood vessel walls. Common symptoms include overly-flexible joints that may dislocate, skin hyperextensibility or over-elastic skin, and fragile tissue.

Typically classified as six types (unfortunately not numbered 1-6…), the symptoms frequently overlap between the types of Ehlers Danlos Syndrome:

  • I and II – Classic
  • III – Hypermobility
  • IV – Vascular
  • VI – Kyphoscoliosis
  • VIIa/b – Arhtrochalsia
  • VIIc – Dermatosparaxis

Ehlers Danlos Syndrome and Pregnancy

The primary issues for pregnancy involve the risk of cervical insufficiency or preterm birth, the risk of poor wound healing, and the risk of severe vascular complications, like aortic root dilation and aneurysms. Type IV is most likely to be associated with severe vascular complications and aortic root dilation.

Aortic root dilation occurs when the aortic root becomes enlarged, and may lead to symptoms, such as chest pain, angina, or shortness of breath and pregnancy is often discouraged for these patients. For other types, there is a smaller risk of aortic root dilation, so echocardiogram is advised to assess the size of the aortic root.

Classic Ehlers Danlos Syndrome has been associated with preterm birth, which is most likely due to cervical insufficiency. However, this is not a universal problem with many reports of term pregnancies in these patients. Therefore, it’s unclear if a cervical cerclage is beneficial. Type III has been reported to have positive pregnancy outcomes, but data are limited.

Maternal Fetal Medicine blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!