A rare case report of vascular Ehlers-Danlos syndrome as a pulsatile neck mass with an internal carotid artery aneurysm.
Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a rare inherited connective tissue disorder caused by autosomal-dominant pathogenic variants in the COL3A1 gene. Defective type III collagen results in marked fragility of arteries and hollow organs, predisposing affec…
Tissue vulnerability revealed by ultrastructural skin analysis as a surrogate for arterial integrity in two cases of vascular Ehlers-Danlos syndrome.
Clinical presentation and operative outcomes in vascular Ehlers-Danlos syndrome (VEDS) are heterogeneous. We present two patients with genetically confirmed VEDS who exhibited markedly different iliac pathology phenotypes. One ruptured a common iliac artery at a near-normal diameter and the other to…
Multidisciplinary management of an older adult with vascular Ehlers-Danlos syndrome and multiple autoimmune comorbidities.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder characterised by vascular fragility and risk of arterial complications. Further overlap with autoimmune diseases and multisystem comorbidities creates unique medical management challenges.We present an early 60s female with…
Gastrointestinal involvement in Ehlers-Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant.
Ehlers-Danlos syndrome classical-like type 2 (clEDS2) is a rare autosomal recessive connective tissue disorder caused by biallelic loss-of-function variants in the gene encoding adipocyte enhancer-binding protein 1 (AEBP1). While cutaneous and skeletal manifestations are commonly observed, gastroint…
Ciprofloxacin Exposure Promotes Aortic Dissection and Arterial Rupture in a Mouse Model of Vascular Ehlers-Danlos Syndrome.
We tested the hypothesis that ciprofloxacin exposure increases the incidence of aortic dissection and arterial rupture in vascular Ehlers-Danlos (vEDS) mice. While data support that fluoroquinolones exacerbate lethal sequela in some types of aortic pathology, the potential danger of these drugs has…
What Every Vascular Surgeon Should Know About Vascular Ehlers-Danlos Syndrome.
Vascular Ehlers-Danlos syndrome (VEDS) vascular type is a rare autosomal dominant disorder caused by pathogenic variants in the COL3A1, resulting in abnormal type III collagen and a high risk of arterial dissection, rupture, and other life-threatening complications at a young age. Diagnosis requires…
Spontaneous splenic rupture and uterine serosal bleeding at 26 Weeks in COL3A1-related vascular Ehlers-Danlos syndrome.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare COL3A1-related disorder that predisposes pregnant patients to arterial and visceral rupture. We report a 35-year-old primigravida at 26 weeks who presented with abdominal pain, hemorrhagic shock, and a rapid hemoglobin decrease. CT showed splenic lace…
Genetic and molecular mechanisms of hereditary thoracic aortic aneurysm and dissection (Review).
Thoracic aortic aneurysm and dissection (TAAD) is a life‑threatening disease with an insidious onset and a largely elusive pathogenesis. Hereditary TAAD (HTAD) can be classified into syndromic forms, including Marfan syndrome, Loeys‑Dietz syndrome and vascular Ehlers‑Danlos synd…