Ehlers-Danlos Syndrome

Question 1

Which type of Ehler’s Danlos (EDS) places women most at risk for OB complications?

Answer 1

Type 4, vascular type

Question 2

What is the mutation in Type 4 EDS?

Answer 2

COL3A1 -> abnl type 3 procollagen production

Question 3

How is EDS Type 4 inherited?

Answer 3

AD

Rate of de novo mutations is high, sporadic cases account for about half of all cases

Question 4

What are the characteristic findings in EDS Type 4?

Answer 4

Translucent skin
Bruising tendency
Characteristic facial aspect (acrogeria - prominent cheekbones, sunken cheeks)
No hyperelasticity of the skin
Increased fragility of arteries, intestines, and uterus -> incr rupture rate
Ruptured vasculature may occur with aneurysm, AV fistula, or spontaneously
Median age of death = 50

Question 5

What is the maternal/fetal mortality rate in EDS Type 4?

Answer 5

Pepin et al - 183 pregnancies in 81 women
167 liveborn infants, 3 stillbirths, 10 SABs, 3 EABS
Maternal mortality 11.5% (12/81 died in the peri- or postpartum period
Causes of death = uterine rupture during labor in 5, great vessel rupture during labor in 2, great vessel rupture postpartum in 5
Increased risk of PPROM

Question 6

What imaging should be ordered with Type 4 EDS considering pregnancy?

Answer 6

Close monitoring of vascular status including evaluation of aortic size and presence of aneurysms

Question 7

What are the delivery considerations for women with Type 4 EDS?

Answer 7

Increased risk of uterine rupture -> general recommendation for C/S before labor onset
Recommended timing for delivery: 32w, 34-36w
Because of poor tissue integrity, incisions typically have delayed healing and increased tendency for dehiscense -> retention sutures x 14d