Ruptured Dissecting Aneurysm in Bilateral Iliac Arteries Caused by Ehlers-Danlos Syndrome Type IV: Report of a Case

Abstract

Ehlers-Danlos syndrome (EDS) is an inherited disorder of connective tissue characterized by hyperextensible skin, hypermobile joints, and abnormalities of the cardiovascular system. Ten types and several subtypes of EDS have so far been recognized based on genetic, clinical, and biochemical characteristics. The spectrum of the disorder varies from mild to life-threatening vascular complications. EDS type IV is a particularly dangerous form with a lethal spontaneous rupture of the major arteries and aneurysmal formation. We present herein a case of a ruptured dissecting aneurysm in the bilateral iliac arteries caused by EDS type IV. A previously healthy 33-year-old man without any physical features of this connective tissue disorder experienced a metachronous vascular rupture two times. Successful synthetic bypass grafting was performed with great difficulty. The diagnosis of EDS type IV was made afterwards based on an electrophoresis analysis of a skin biopsy specimen which revealed a lack of type III collagen. Surgical intervention in cases of arterial complications in EDS type IV patients have been reported to be both difficult and frequently unsuccessful. The early clinical recognition of this syndrome is therefore of great importance due to the hazards of such surgical therapies.

Vascular Ehlers-Danlos Syndrome: Imaging Findings

“…Previous case reports have discussed involvement of the thoracic and abdominal aorta, the celiac axis, and the splenic, hepatic, pancreaticoduodenal, renal, iliac, carotid, cervical, and intracranial arteries [16][17][18][19][20][21][22][23]. In our study, the main characteristic in patients with vascular EDS is the tendency to have multiple abnormalities in various vascular segments at a relatively young age.…”

Internal carotid artery dissection in a patient with Ehlers-Danlos syndrome type IV: diagnosis and management

“…Standard vascular sutures usually lead to tearing, and the best choices for these patients are arterial ligatures, as long as they do not compromise the blood supply to the organ, or a carotid bypass. Other precautions include the delicate and atraumatic handling of the artery and the use of soft, coated clamps or occlusion balloons instead of standard clamps 1,3,9,12 . However, no conclusive data about the use of stents are available 12 .…”

“…The presence of two or more major diagnostic criteria suggests the diagnosis, and biochemical or molecular genetic tests should be performed for confirmation. 2 Biochemical tests evaluate collagen type III by means of electrophoresis of proteins in fibroblasts cultured in material collected for skin biopsy 9 . Molecular tests evaluate DNA directly, and include the complete sequencing of the COL3A1 gene (reference criterion for laboratory investigation because it detects 95% of the mutations that cause the disease 4 ) and the analysis of deletions and insertions more frequently associated with the disease using different techniques, such as polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) 10. In clinical practice, it is very difficult to perform genetic tests to confirm EDS type IV.…”

A Novel <b><i>COL3A1 </i></b>c.2644G>T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome

“…2 , 3 ). Enoxoparin was stopped, and clopidogrel together with acetylsalicylic acid was continued [Imamura et al, 2001;Nasser et al, 2013]. All exons of the ACTA2 gene were amplified and sequenced for Moya Moya disease.…”