The vascular ehlers-danlos syndrome

  • Dominique P. Germain

Opinion statement

Vascular Ehlers-Danlos syndrome (EDS) is a life-threatening inherited disorder of connective tissue causing severe arterial and gastrointestinal fragility and rupture, as well as complications of surgical and radiologic interventions. The diagnosis should be considered in patients under the age of 45 years who present with arterial tearing or dissection, colonic perforation, or visceral rupture. As for many orphan diseases, delayed diagnosis can lead to inaccurate care. Therefore, vascular EDS is particularly important to surgeons, radiologists, and obstetricians because knowledge of the diagnosis may help in the management of visceral complications. There are currently no specific treatments for this genetic condition, and medical intervention is limited to symptomatic treatment, precautionary measures, genetic counseling, and prenatal diagnosis. A clinical trial is ongoing to study the effectiveness of ß blockers with vasodilating properties in vascular EDS. Complications require hospitalization, observation in an intensive care unit, and sometimes emergency surgical intervention. CT, echography, and MRI are the most useful imaging modalities. Arteriography is contraindicated. Whenever possible, a wait-and-see attitude with close surveillance is preferable to unwarranted surgery. Surgical treatment carries a high mortality, whereas the mortality rate associated with endovascular treatment is unknown. To improve the likelihood of good surgical outcome, the surgeon must be informed of the patient’s condition. The intent of surgery is to control hemorrhage if an artery, with or without aneurysm, has ruptured and to reconstruct the arterial vasculature. For vascular repair, simple procedures should be preferred, because more complex techniques can result in further injury and hemorrhage. Postoperative surveillance must be prolonged with close medical follow-up and serial CT scans. Pregnant women with vascular EDS should be considered high-risk cases and be provided special care.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References and Recommended Reading

  1. 1.
    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. A major review of clinical and genetic features of vascular EDS with epidemiologic data.PubMedCrossRefGoogle Scholar
  2. 2.
    Germain DP, Herrera-Guzman Y: Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Genet 2004, 47:1–9.PubMedGoogle Scholar
  3. 3.
    Jarmulowicz M, Phillips WG: Vascular Ehlers-Danlos syndrome undiagnosed during life. J R Soc Med 2001, 94:28–30.PubMedGoogle Scholar
  4. 4.
    Ascione R, Gomes WJ, Bates M, et al.: Emergency repair of type A aortic dissection in type IV Ehlers-Danlos syndrome. Cardiovasc Surg 2000, 8:75–78.PubMedCrossRefGoogle Scholar
  5. 5.
    Sayin AG, Bozkurt AK, Cangel U, et al.: A brachial aneurysm in childhood caused by Ehlers-Danlos syndrome. J Cardiovasc Surg 2001, 42:687–689.Google Scholar
  6. 6.
    Yost BA, Vogelsang JP, Lie JT: Fatal hemoptysis in Ehlers-Danlos syndrome. Old malady with a new curse. Chest 1995, 107:1465–1467.PubMedGoogle Scholar
  7. 7.
    Evans RH, Fraser AG: Spontaneous coronary artery rupture and cardiac tamponade in Ehlers-Danlos syndrome type IV. Int J Cardiol 1996, 54:283–286.PubMedCrossRefGoogle Scholar
  8. 8.
    Meldon S, Brady W, Young JS: Presentation of Ehlers-Danlos syndrome: iliac artery pseudoaneurysm rupture. Ann Emerg Med 1996, 28:231–234.PubMedCrossRefGoogle Scholar
  9. 9.
    Imamura A, Nakamoto H, Inoue T, et al.: Ruptured dissecting aneurysm in bilateral iliac arteries caused by Ehlers-Danlos syndrome type IV: report of a case. Surg Today 2001, 31:85–89.PubMedCrossRefGoogle Scholar
  10. 10.
    Wimmer PJ, Howes DS, Rumoro DP, Carbone M: Fatal vascular catastrophe in Ehlers-Danlos syndrome: a case report and review. J Emerg Med 1996, 14:25–31.PubMedCrossRefGoogle Scholar
  11. 11.
    Kato T, Hattori H, Yorifuji T, et al.: Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood. Pediatr Neurol 2001, 25:336–339.PubMedCrossRefGoogle Scholar
  12. 12.
    Schieving WI: Cerebrovascular involvement in Ehlers-Danlos syndrome. Curr Treat Options Cardiovasc Med 2004, 6:231–236.Google Scholar
  13. 13.
    Koh JH, Kim JS, Hong SC, et al.: Skin manifestations, multiple aneurysms, and carotid-cavernous fistula in Ehlers-Danlos syndrome type IV. Circulation 1999, 100:e57-e58.PubMedGoogle Scholar
  14. 14.
    Chuman H, Trobe JD, Petty EM, et al.: Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. J Neuroophthalmol 2002, 22:75–81.PubMedGoogle Scholar
  15. 15.
    Gelbmann CM, Kollinger M, Gmeinwieser J, et al.: Spontaneous rupture of liver in a patient with Ehlers Danlos disease type IV. Dig Dis Sci 1997, 42:1724–1730.PubMedCrossRefGoogle Scholar
  16. 16.
    Mistry BM, Solomon H, Garvin PJ, et al.: Spontaneous rupture of the liver upon revascularization during transplantation. Transplantation 2000, 69:2214–2218.PubMedCrossRefGoogle Scholar
  17. 17.
    Solomon JA, Abrams L, Lichtenstein GR: GI manifestations of Ehlers-Danlos syndrome. Am J Gastroenterol 1996, 91:2282–2288.PubMedGoogle Scholar
  18. 18.
    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.PubMedCrossRefGoogle Scholar
  19. 19.
    Athanassiou AM, Turrentine MA: Myocardial infarction and coronary artery dissection during pregnancy associated with type IV Ehlers-Danlos syndrome. Am J Perinatol 1996, 13:181–183.PubMedGoogle Scholar
  20. 20.
    Debie B, Hamer F, Dahan K, et al.: Rupture of the renal artery and renal parenchyma in a pregnant woman with vascular form of Ehlers-Danlos syndrome. Prog Urol 2005, 15:303–305.PubMedGoogle Scholar
  21. 21.
    Pope FM, Narcisi P, Nicholls AC, et al.: COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol 1996, 135:163–181.PubMedCrossRefGoogle Scholar
  22. 22.
    HGMD. Human Gene Mutation Database Cardiff: Collagen III alpha I. mg/hgmd0.html.Google Scholar
  23. 23.
    Shores J, Berger KR, Murphy EA, et al.: Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan’s syndrome. N Engl J Med 1994, 330:1335–1341.PubMedCrossRefGoogle Scholar
  24. 24.
    Boutouyrie P, Germain DP, Fiessinger JN, et al.: Increased carotid wall stress in vascular Ehlers-Danlos syndrome. Circulation 2004, 109:1530–1535.PubMedCrossRefGoogle Scholar
  25. 25.
    Sugawara Y, Ban K, Imai K, et al.: Successful coil embolization for spontaneous arterial rupture in association with Ehlers-Danlos syndrome type IV: report of a case. Surg Today 2004, 34:94–96.PubMedCrossRefGoogle Scholar
  26. 26.
    Sultan S, Morasch M, Colgan MP, et al.: Operative and endovascular management of extracranial vertebral artery aneurysm in Ehlers-Danlos syndrome: a clinical dilemma—case report and literature review. Vasc Endovascular Surg 2002, 36:389–392.PubMedGoogle Scholar
  27. 27.
    Germain DP: Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg 2002, 16:391–397.PubMedCrossRefGoogle Scholar
  28. 28.
    Oderich GS, Panneton JM, Bowers TC, et al.: The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 2005, 42:98–106. A major review of clinical and surgical management of vascular EDS.PubMedCrossRefGoogle Scholar
  29. 29.
    Schieving WI, Link MJ, Piepgras DG, et al.: Intracranial aneurysm surgery in Ehlers-Danlos syndrome type IV. Neurosurgery 2002, 51:607–611.CrossRefGoogle Scholar
  30. 30.
    Fuchs JR, Fishman SJ: Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. J Pediatr Surg 2004, 39:e1-e3.PubMedCrossRefGoogle Scholar
  31. 31.
    Wiedeman JE, Ritter EM: Use of porcine small intestinal submucosa in Ehlers-Danlos syndrome type IV. Am Surg 2003, 69:424–426.PubMedGoogle Scholar
  32. 32.
    Kinanne J, Priebe C, Caty M, Kupperman N: Perforation of the colon in an adolescent girl. Pediatr Emerg Care 1995, 11:230–232.CrossRefGoogle Scholar
  33. 33.
    Germain DP: Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects. Ann Dermatol Venereol 1995, 122:187–204.PubMedGoogle Scholar
  34. 34.
    De Paepe A, Malfait F: Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol 2004, 127:491–500.PubMedCrossRefGoogle Scholar
  35. 35.
    Yasui H, Adachi Y, Minami T, et al.: Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome. Am J Hematol 2003, 72:71–72.PubMedCrossRefGoogle Scholar
  36. 36.
    Rochelson B, Caruso R, Davenport D, Kaelber A: The use of prophylactic desmopressin (DDAVP) in labor to prevent hemorrhage in a patient with Ehlers-Danlos syndrome. N Y State J Med 1991, 91:268–369.PubMedGoogle Scholar

Copyright information

© Current Science Inc. 2006

Authors and Affiliations

  • Dominique P. Germain
    • 1
  1. 1.Clinical Genetics UnitHôpital Européen Georges PompidouParisFrance

Personalised recommendations