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

Park, Jong Kwon

Abstract

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.