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

Abstract

Ehlers-Danlos syndrome (EDS) type IV, also known as vascular EDS, is an inherited connective tissue disorder with an estimated prevalence of 1/100,000 to 1/250,000. In EDS type IV, vascular complications may affect all anatomical areas, with a preference for large- and medium-sized arteries. Dissections of the vertebral and carotid arteries in their extra- and intra-cranial segments are typical. The authors report the case of a patient with EDS type IV for whom the diagnosis was established based on clinical signs and who developed internal carotid artery dissection at the age of 44 years. In the absence of a specific treatment for EDS type IV, medical interventions should focus on symptomatic relief, prophylactic measures, and genetic counseling. Invasive imaging techniques are contraindicated, and a conservative approach to vascular complications is usually recommended.

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

“…Approximately 98% of the vEDS cases are caused by a pathogenic variation in the COL3A1 gene [Mehta et al, 2012;Nasser et al 2013;Shalhub et al 2019]. COL3A1 (NG_007404.1) is located at chr2q31 and composed of 51 exons.…”

“…COL3A1 (NG_007404.1) is located at chr2q31 and composed of 51 exons. Mutations in this gene cause aortic aneurysms, aortic dissection and rupture, gastrointestinal hemorrhage and perforation, uterine rupture, pneumothorax, hemothorax, and sudden death in some cases [Germain 2007;Nasser et al 2013;Shalhub et al 2019]. More than 200 mutations in the COL3A1 gene have been described so far, all of which lead to synthesis of an abnormal type III collagen protein [Malfait et al, 2017].…”

“…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.…”

Spontaneous carotid dissection

“…), environmental factors (recent infection, trauma or cervical manipulation) and risk factors (hypertension, migraine, low cholesterol levels, and body mass index) may lead to the development of CD. [1][2][3][4][5][6][7][8][9] Clinical presentation varies according to the artery involved. Ipsilateral headache and focal symptoms are often associated with the area of cerebral or retinal ischemia.…”