Treatment of vascular Ehlers-Danlos syndrome: a systematic review.

Published on Aug 1, 2013in Annals of Surgery9.476
· DOI :10.1097/SLA.0b013e31829c7a59
David Bergqvist71
Estimated H-index: 71
Martin Björck47
Estimated H-index: 47
Anders Wanhainen33
Estimated H-index: 33
OBJECTIVE:To provide the collected evidence from all literature reports.BACKGROUND:Vascular Ehlers-Danlos syndrome (EDS) is a rare connective tissue disorder with serious hemorrhagic consequences. Most experience on treatment is based on case reports and small case series.METHOD:A systematic literature review was performed. PubMed and reference lists were scrutinized.RESULTS:A total of 231 patients were identified with no gender preponderance. Aneurysms were present in 40%, often multiple. In 33%, there was an arterial rupture without an underlying aneurysm. Carotidocavernous fistula was seen in 18%. After open surgery the mortality was 30%; after endovascular procedures, it was 24%; in a group of miscellaneous cases, it was 60%; and the overall mortality was 39%. The median age of patients at death was 31 years. The median follow-up time was 12 months (5 days-7 years), but in 20% cases, it was not reported. In only 29 of the 119 recent patients (24%) the mutation was verified with molecular genetic testing.CONCLUSIONS:Vascular EDS is a serious disorder with high mortality, which does not seem to have been influenced by new treatment methods. Invasive methods should be used only when necessary, primarily to save the patients' life. Whenever possible, the genetic molecular defect should be identified. The results of this review may be affected by publications bias. Ideally, a prospective registry should be created.
  • References (88)
  • Citations (47)
📖 Papers frequently viewed together
857 Citations
269 Citations
201059.10The Lancet
16 Authors (K.T. Ong, ..., Pierre Boutouyrie)
199 Citations
78% of Scinapse members use related papers. After signing in, all features are FREE.
#1Michael J. Pickup (U of T: University of Toronto)H-Index: 1
#2Michael S. Pollanen (U of T: University of Toronto)H-Index: 21
We describe two previously unreported associations in four cases. The first two cases demonstrate an association between segmental mediolytic arteriopathy and vascular Ehlers-Danlos syndrome. The second two cases illustrate an association between vascular Ehlers-Danlos syndrome and traumatic subarachnoid hemorrhage. In case 1, there was acute subarachnoid hemorrhage and mesenteric artery dissection. In case 2, there was an acute mesenteric artery dissection with intestinal infarction. In both ca...
23 CitationsSource
#1Philippe Charlier (UVSQ: Versailles Saint-Quentin-en-Yvelines University)H-Index: 10
Last. Lorin de la Grandmaison G (UVSQ: Versailles Saint-Quentin-en-Yvelines University)H-Index: 15
view all 6 authors...
This article describes the case of a sudden death in a 45-year-old female consecutive to acute and extensive arterial dissection in a context of Ehlers–Danlos syndrome type IV. The interest of this case report is that autopsy findings led to the suspicion of a clinical diagnosis prompting as carrying out a genetic testing which definitively confirms the diagnosis, opening the way to genetic council for family members. Criteria for this disease diagnosis and full methodology are described, that m...
4 CitationsSource
#1Klaus D. Hagspiel (UVA: University of Virginia)H-Index: 40
#2Hugo Bonatti (UVA: University of Virginia)H-Index: 31
Last. Nancy L. Harthun (UVA: University of Virginia)H-Index: 14
view all 5 authors...
Ehlers-Danlos syndrome type IV is a life-threatening genetic connective tissue disorder. We report a 24-year-old woman with EDS-IV who presented with metachronous bilateral aneurysms/pseudoaneurysms of the posterior tibial arteries 15 months apart. Both were treated successfully with transarterial coil embolization from a distal posterior tibial approach.
11 CitationsSource
#1Ho Sang Kim (PNU: Pusan National University)H-Index: 3
#2Chang Hwa Choi (PNU: Pusan National University)H-Index: 15
Last. Sang Phil Kim (PNU: Pusan National University)H-Index: 1
view all 4 authors...
Ehlers-Danlos syndrome (EDS) type IV is characterized by its clinical manifestations, which are easy bruising, thin skin with visible veins, and rupture of arteries, uterus, or intestines. Arterial complications are the leading cause of death in vascular EDS because they are unpredictable and surgical repair is difficult due to tissue fragility. The authors report a case presented with cervical radiculopathy due to a segmental fusiform aneurysm of the cervical vertebral artery. Transfemoral cere...
4 CitationsSource
#2Marjolijn RenardH-Index: 18
Last. Bart Loeys (UGent: Ghent University)H-Index: 56
view all 3 authors...
Purpose of reviewThoracic aortic aneurysm (TAA) dissection is an important cause of death in the western world. Especially in young adults, the genetic contribution to this disease is estimated to be high, as at least one out of five probands has a positive family history for aortic aneurysms/dissec
84 CitationsSource
#1Lisa B.E. ShieldsH-Index: 4
#2Cristin M. Rolf (UK: University of Kentucky)H-Index: 2
Last. John C. Hunsaker (UK: University of Kentucky)H-Index: 23
view all 4 authors...
Abstract: Ehlers–Danlos syndrome (EDS) type IV is a connective tissue disorder characterized by the inability to produce sufficient amounts of collagen or a defect in the structure of collagen. The most serious complications include a rupture of a viscus or vascular rupture with or without mural dissection. Death may result from internal hemorrhage. This report describes three cases of sudden and unexpected death caused by EDS type IV. Two cases involved hemothorax as a result of dissection of t...
17 CitationsSource
#1Benjamin S. Brooke (Johns Hopkins University)H-Index: 25
14 CitationsSource
#1K.T. Ong (Paris V: Paris Descartes University)H-Index: 5
#2Jérôme PerduH-Index: 7
Last. Pierre Boutouyrie (Paris V: Paris Descartes University)H-Index: 66
view all 16 authors...
Summary Background Vascular Ehlers-Danlos syndrome is a rare severe disease that causes arterial dissections and ruptures that can lead to early death. No preventive treatment has yet been validated. Our aim was to assess the ability of celiprolol, a β 1 -adrenoceptor antagonist with a β 2 -adrenoceptor agonist action, to prevent arterial dissections and ruptures in vascular Ehlers-Danlos syndrome. Methods Our study was a multicentre, randomised, open trial with blinded assessment of clinical ev...
199 CitationsSource
#1Aladdin YilmazH-Index: 1
#2Thomas DessingH-Index: 1
Last. Luca BottaH-Index: 14
view all 3 authors...
6 CitationsSource
#1Guntram Borck (University of Cologne)H-Index: 29
#2Peter Beighton (UCT: University of Cape Town)H-Index: 51
Last. Christian Kubisch (University of Cologne)H-Index: 43
view all 5 authors...
The vascular type of Ehlers–Danlos syndrome (EDS IV) is associated with a high risk of life-threatening medical complications, including ruptures of large arteries, the intestine, and the uterus during pregnancy. An arterial rupture occurring in an individual with EDS is regarded as almost diagnostic of EDS IV, which is caused by heterozygous mutations in COL3A1. Here however, we report on a man with skin lesions typical of EDS, easy bruising and recurrent inguinal hernias who had a spontaneous ...
33 CitationsSource
Cited By47
Last. Osman Celbis (İnönü University)H-Index: 8
view all 6 authors...
Abstract Ehlers-Danlos Syndrome (EDS) is a connective tissue disease with heterogeneous subgroups. In type IV EDS, also known as vascular EDS (VEDS), the underlying genetic anomaly consists of a mutation of the COL3A1 gene encoding the type III procollagen. As a result of the mutation, pathological findings due to excessive brittleness of the tubular organs or vessels occur. In our case, we present a patient with sudden death due to colon perforation which was diagnosed with EDS type IV after fu...
#1D. Sheeran (University of Virginia Health System)
#2Adam M. Zelickson (University of Virginia Health System)
Last. Minhaj S. Khaja (UM: University of Michigan)H-Index: 5
view all 6 authors...
Thoracic aortic emergencies reflect a wide range of etiologies, pathologic processes, and clinical presentations. Accurate identification with an appropriate treatment algorithm is best accomplished in a multidisciplinary setting with interventional radiologists, vascular surgeons, and cardiothoracic surgeons. While knowledge of thoracic stent graft equipment and technique is essential in the treatment of thoracic aortic emergencies, many clinical settings may employ alternative treatment techni...
#1Liz SageH-Index: 1
#2Melissa Russo (Brown University)
Last. Sherene ShalhubH-Index: 13
view all 8 authors...
Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare, syndromic, heritable condition with life-threatening complications that include aortic and arterial aneurysms, dissection, and rupture. This study describes the formation of the vEDS Research Collaborative and methods used for stakeholder engagement. Methods The vEDS Research Collaborative was established with an engagement award from the Patient-Centered Outcomes Research Institute to create a framework for a patient-researche...
Abstract Vascular Ehlers-Danlos syndrome (vEDS), also known as type IV Ehlers-Danlos syndrome, is a rare inherited connective tissue disease that affects 1 in 50,000 to 250,000 individuals. It is characterized by catastrophic vascular complications and hollow viscus rupture; 80% of patients with vEDS experience a vascular complication by the age of 40 years, and median life expectancy is 40 to 50 years. The central vasculature and visceral vasculature are most commonly affected; peripheral invol...
Abstract Vascular Ehlers-Danlos syndrome (EDS IV ) is a rare genetic disorder characterised by an alteration in the COL3A1 gene which encodes type III collagen. It is the most common type of collagen in vessels of medium size and certain organs such as the intestines and the uterus. The alteration of this type of collagen produces aneurisms and ruptures of vessels and organs. A high level of clinical suspicion is required for diagnosis. It is a complex disease whose management requires a multidi...
#1Haruki OuchiH-Index: 1
#2Hiroshi NishiH-Index: 18
Last. Masaomi NangakuH-Index: 62
view all 11 authors...
#1Mohamed M. Salem (BIDMC: Beth Israel Deaconess Medical Center)H-Index: 4
#2Luis C. Ascanio (BIDMC: Beth Israel Deaconess Medical Center)H-Index: 3
Last. Abdulrahman Y. Alturki (BIDMC: Beth Israel Deaconess Medical Center)H-Index: 7
view all 6 authors...
Background Isolated cervical pseudoaneurysms of the internal carotid artery (ICA) in patients with Marfan syndrome are extremely rare. Case Description A 73-year-old female with Marfan syndrome and history of multiple aortic aneurysms presented to an outside hospital with dysphagia, a mass in her neck, dizziness, nausea, and vomiting. A computed tomography angiogram showed bilateral cervical ICA pseudoaneurysms, more significant on the right side. A laryngoscopy demonstrated edematous vocal cord...
#1Yoshiro Ito (University of Tsukuba)H-Index: 4
#2Tetsu SatowH-Index: 16
Last. Jun TakahashiH-Index: 46
view all 5 authors...
Background Vascular Ehlers-Danlos syndrome (vEDS) is a vascular disease associated with a genetic collagen abnormality. It is characterized by vessel fragility, vessel rupture, and massive hemorrhage. Carotid-cavernous fistula (CCF) is the most frequent neurovascular complication of vEDS. However, CCF treatment using conventional diagnostic angiography and neuroendovascular therapy can result in a high rate of major complications. Case Description We report a case of a right CCF in a 48-year-old...
2 CitationsSource
#1Qasim Rahman (UA: University of Arizona)
#2S Naidu (Mayo Clinic)H-Index: 1
Last. William M. Stone (Mayo Clinic)H-Index: 20
view all 4 authors...
Ehlers-Danlos syndrome (EDS) refers to a group of genetic disorders involving the connective tissues. Type IV EDS impairs type III collagen that is responsible for vessel integrity. Patients with type IV EDS are susceptible to vascular and visceral complications, including aortic aneurysms, pseudoaneurysms, dissections, and spontaneous rupture of internal organs. Treating aneurysms with open surgery versus endovascular techniques each carry a unique risk-to-benefit ratio that must be applied to ...
#1Carlos BleiseH-Index: 5
Last. Pedro LylykH-Index: 19
view all 5 authors...