Secondary publication Sudden Aortic Rupture in Ehlers-Danlos Syndrome Type IV / 대한법의학회지

Ehlers-Danlos syndrome type IV (EDS IV) is a hereditary disorder of the connective tissue, characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations of the gene for type III procollagen (COL3A1), resulting in insufficient collagen production or a defect in the structure of collagen. EDS IV can have fatal complications such as the rupture of great vessels or organs, which can cause hemorrhaging and sudden unexpected death. Here, we report a case of a 43-year-old female who collapsed after a struggle with a neighbor. In this patient, the bifurcation of the bilateral common iliac artery ruptured, with no evidence of trauma, inflammation, or atherosclerosis. Genetic analysis of COL3A1 showed the presence of a c.2771G>A (p.Gly924Arg) mutation, which may be associated with EDS IV. The forensic pathologist should consider the possibility that the spontaneous visceral or arterial rupture was caused by EDS IV. Genetic analysis is not currently a routine procedure during autopsy. However, in this case, we suggest that the patient possibly had an underlying EDS IV condition, and we recommended family members of the deceased to seek genetic analysis and counseling.

Ehlers-Danlos Syndrome Type IV and the Management of Its Vascular Complication / 대한혈관외과학회지

Ehlers-Danlos syndrome type IV (EDS IV), the vascular type of EDS, is an inherited connective tissue disorder due to abnormal procollagen III synthesis by mutation of the COL3A1 gene. EDS is classified into 6 types based on clinical, biochemical, and molecular characteristics. Among them, EDS IV has the worst prognosis because of the major vascular catastrophes and the difficulty of vascular repair due to fragile connective tissue. Arterial, digestive, or uterine ruptures are the main lethal symptoms of EDS IV, and thin translucent skin, extensive bruising, and characteristic facial appearance are the other major symptoms. Although many successful results have been reported after open surgery or endovascular repair for EDS IV, surgical or endovascular procedures are still challenging to perform and sometimes are associated with serious hemorrhagic complications in EDS IV patients. In general, open surgery is not recommended except in an emergency situation, and conservative treatment is the preferred strategy for the treatment of vascular complications in EDS IV. Aneurismal diseases are observed in many EDS IV patients, and abdominal aortic aneurysm and iliac arterial aneurysm are the frequent presentations. Therefore, when treating patients with aneurysms, the vascular surgeon should consider the high possibility of connective tissue disease, especially EDS IV. Without the preoperative recognition of EDS IV, routine surgical or endovascular procedures may result in major bleeding and subsequent increased morbidity and mortality. In this article, the characteristics, clinical outcomes, and treatment strategies of EDS IV are reviewed.

Genetic Analysis of Three Korean Patients with Clinical Features of Ehlers-Danlos Syndrome Type IV

Ehlers-Danlos syndrome (EDS) is a hereditary disorder of the connective tissue. EDS type IV (EDS IV), the vascular type of the disease, is characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations in the gene for type III procollagen (COL3A1). However, recent studies suggest that the causative mutation of EDS IV is not homogeneous. We report our experience with three patients presenting with clinical features of type IV EDS. A 48-yr-old woman presented with acute aortic dissection (patient 1) and 36-yr-old and 21-yr-old women presented with carotidcavernous fistula (patients 2 and 3, respectively). All three patients bruised easily. Two patients (patients 1 and 3) had thin transparent skin with visible veins. Genetic analysis of COL3A1 revealed a Gly732Val (c.2195G>T) mutation in patient 1 and a duplication of 15 base pairs (c.3221_3235dup) which resulted in an interposition of five amino acids (p.Gly1074_Pro1078dup) in patient 2. However, no mutations were observed in COL3A1 or transforming growth factor beta receptors 1 and 2 in patients 3, which might be either due to a deletion of single or multiple exons in the COL3A1 gene or due to a genetic heterogeneity. This is the first report of genetically confirmed cases of EDS IV in Korea.