University of Wisconsin–Madison Medical College of Wisconsin

Nine Successful Pregnancy Outcomes in a Woman With Vascular Ehlers-Danlos Syndrome: A Case Report and Literature Review

Zarif Zaman, MGCS, CGC; Sonja J. Henry, MS, CGC; Laura E. Birkeland, MS, CGC; Elizabeth M. Petty, MD

WMJ. 2022;121(4):e71-e74

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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.

Author Affiliations: Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin (Zaman, Henry, Birkeland, Petty); Center for Perinatal Care, UnityPoint Health Meriter Hospital, Madison, Wis (Birkeland).
Corresponding Author: Zarif Zaman, MGCS, CGC, 8961 Edgewater Pl. Parkland, FL 33076; email; ORCID ID 0000-0003-1640-3042
Acknowledgements: The authors express gratitude to the patient and her family for their cooperation during the diagnostic process and their agreement in the publication of this case.
Financial Disclosures: None declared.
Funding/Support: None declared.
Consent for Publication: Informed consent for the publication of this case report and accompanying images were obtained from the patient. It has been uploaded separately and is available on request.
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