Álvarez Kevin, Jordi López, Jose Angel Hernández
Servicio de Cardiología, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Las Palmas, España.
Servicio de Neumología, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Las Palmas, España.
Reumatol Clin (Engl Ed). 2019 Nov-Dec;15(6):e128-e129. doi: 10.1016/j.reuma.2017.08.009. Epub 2017 Oct 16.
Vascular Ehlers-Danlos syndrome (EDS IV) is a rare genetic disorder characterized by an alteration in the COL3A1 gene which encodes type III collagen. It is the most common type of collagen in vessels of medium size and certain organs such as the intestines and the uterus. The alteration of this type of collagen produces aneurisms and ruptures of vessels and organs. A high level of clinical suspicion is required for diagnosis. It is a complex disease whose management requires a multidisciplinary team to treat the different complications that may occur. We report the case of a 50-year-old man diagnosed with EDS IV detected incidentally after hemothorax secondary to a coughing spell.
血管型埃勒斯-当洛综合征（EDS IV型）是一种罕见的遗传性疾病，其特征是编码III型胶原蛋白的COL3A1基因发生改变。III型胶原蛋白是中等大小血管以及某些器官（如肠道和子宫）中最常见的胶原蛋白类型。这种胶原蛋白的改变会导致血管和器官出现动脉瘤和破裂。诊断需要高度的临床怀疑。这是一种复杂的疾病，其治疗需要多学科团队来处理可能出现的不同并发症。我们报告了一例50岁男性患者的病例，该患者在因咳嗽发作导致血胸后偶然被诊断为EDS IV型。
