Zarif Zaman, MGCS, CGC; Sonja J. Henry, MS, CGC; Laura E. Birkeland, MS, CGC; Elizabeth M. Petty, MD
WMJ. 2022;121(4):e71-e74
ABSTRACT
Introduction: The vascular form of Ehlers-Danlos syndromes occurs due to alterations in the COL3A1 gene. It has been associated with major vascular and hollow organ complications, leading to increased morbidity and mortality rates with pregnancy.
Case Presentation: We report a woman (gravida 9, para 9) diagnosed with vascular Ehlers-Danlos syndrome in her 70s after bowel rupture. Genetic testing revealed a null mutation in COL3A1 that is predicted to result in haploinsufficiency. Preceding diagnosis, she had 9 pregnancies with minimal complications.
Discussion: While no evidence-based guidelines for obstetric care in vascular Ehlers-Danlos syndrome have been well-established, patients often are counseled and followed as high-risk pregnancies.
Conclusions: Null mutations resulting in haploinsufficiency likely have lower pregnancy risks than reported in the literature for vascular Ehlers-Danlos syndrome overall. Thus, understanding the specific COL3A1 mutation may help optimize counseling regarding pregnancy and facilitate decision-making regarding management.