Advertisement

Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers–Danlos Syndrome

  • Lindsay A. SceatsEmail author
  • Preeti A. Sukerkar
  • Shyam S. Raghavan
  • Alaleh Esmaeili Shandiz
  • Andrew Shelton
  • Cindy Kin
Stanford Multidisciplinary Seminars

Case Presentation and Evolution

A 29-year-old woman was evaluated in the emergency department for fevers and lower abdominal pain. She had recently been admitted to an outside hospital for diverticulitis and treated with intravenous antibiotics. Abdominal computed tomography (CT) was interpreted as showing complicated sigmoid diverticulitis with associated abscess. Past medical history was notable for two prior episodes of complicated diverticulitis; one episode involved colonic perforation while the patient was 3 months pregnant that resulted in pregnancy loss. This was managed with a Hartmann’s procedure that was later reversed. She had previously undergone cholecystectomy and two cesarean sections without complications.

She was initially treated with intravenous antibiotics, bowel rest, and percutaneous abscess drainage. Given her young age and history of repeated abdominal abscesses and perforation, there was clinical concern for Crohn’s disease. She underwent magnetic resonance...

References

  1. 1.
    Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175:8–26.CrossRefGoogle Scholar
  2. 2.
    Germain DP. Ehlers–Danlos syndrome type IV. Orphanet J Rare Dis. 2007;2:32.CrossRefGoogle Scholar
  3. 3.
    Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342:673–680.CrossRefGoogle Scholar
  4. 4.
    Fikree A, Chelimsky G, Collins H, Kovacic K, Aziz Q. Gastrointestinal involvement in the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175:181–187.CrossRefGoogle Scholar
  5. 5.
    Rana M, Aziz O, Purkayastha S, Lloyd J, Wolfe J, Ziprin P. Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature. J Med Case Rep. 2011;5:229.CrossRefGoogle Scholar
  6. 6.
    Blaker H, Funke B, Hausser I, Hackert T, Schirmacher P, Autschbach F. Pathology of the large intestine in patients with vascular type Ehlers–Danlos syndrome. Virchows Arch. 2007;450:713–717.CrossRefGoogle Scholar
  7. 7.
    Collins MH, Schwarze U, Carpentieri DF, et al. Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers–Danlos syndrome type IV. Pediatr Dev Pathol. 1999;2:86–93.CrossRefGoogle Scholar
  8. 8.
    El Masri H, Loong TH, Meurette G, Podevin J, Zinzindohoue F, Lehur PA. Bowel perforation in type IV vascular Ehlers–Danlos syndrome. A systematic review. Tech Coloproctol. 2018;22:333–341.CrossRefGoogle Scholar
  9. 9.
    Freeman RK, Swegle J, Sise MJ. The surgical complications of Ehlers–Danlos syndrome. Am Surg. 1996;62:869–873.PubMedGoogle Scholar
  10. 10.
    Harris SC, Slater DN, Austin CA. Fatal splenic rupture in Ehlers–Danlos syndrome. Postgrad Med J. 1985;61:259–260.CrossRefGoogle Scholar
  11. 11.
    Mast KJ, Nunes ME, Ruymann FB, Kerlin BA. Desmopressin responsiveness in children with Ehlers–Danlos syndrome associated bleeding symptoms. Br J Haematol. 2009;144:230–233.CrossRefGoogle Scholar
  12. 12.
    Berney T, La Scala G, Vettorel D, et al. Surgical pitfalls in a patient with type IV Ehlers–Danlos syndrome and spontaneous colonic rupture. Report of a case. Dis Colon Rectum. 1994;37:1038–1042.CrossRefGoogle Scholar
  13. 13.
    Sykes EM Jr. Colon perforation in Ehlers–Danlos syndrome. Report of two cases and review of the literature. Am J Surg. 1984;147:410–413.CrossRefGoogle Scholar
  14. 14.
    Casey MC, Robertson I, Waters PS, Hanaghan J, Khan W, Barry K. Non-operative management of diverticular perforation in a patient with suspected Ehlers–Danlos syndrome. Int J Surg Case Rep. 2014;5:135–137.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Lindsay A. Sceats
    • 1
    Email author
  • Preeti A. Sukerkar
    • 2
  • Shyam S. Raghavan
    • 3
  • Alaleh Esmaeili Shandiz
    • 3
  • Andrew Shelton
    • 1
  • Cindy Kin
    • 1
  1. 1.Division of Colorectal Surgery, Department of General SurgeryStanford University School of MedicineStanfordUSA
  2. 2.Department of RadiologyStanford University School of MedicineStanfordUSA
  3. 3.Department of PathologyStanford University School of MedicineStanfordUSA

Personalised recommendations