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Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage
  1. Inês Pimenta1,
  2. Rita Varudo1,
  3. Filipa Castelao2 and
  4. Filipe André Gonzalez1
  1. 1Intensive Care Department, Hospital Garcia de Orta EPE, Almada, Portugal
  2. 2Neuroradiology, Hospital Garcia de Orta EPE, Almada, Portugal
  1. Correspondence to Dr Filipe André Gonzalez; filipeandregonzalez{at}gmail.com

Abstract

Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.

  • genetics
  • intensive care
  • interventional radiology
  • connective tissue disease
  • neurosurgery

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Footnotes

  • Contributors All authors contributed to the writing of the article and were involved with the patient’s care. IP: conception of the article, revising intellectual content and drafting of the manuscript. RV: writing of the initial draft. FC: participated in revision of the case and selection of relevant images. FAG: revising and preparation of the final manuscript. All authors read and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.