Internal medicine (Tokyo, Japan) · 2019
Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Sakai Kosuke, Toda Maiko, Kyoyama Hiroyuki, Nishimura Hiroaki, Kojima Akitoshi, Kuwabara Yoshiki, Kobayashi Yumiko, Kikuchi Satoshi, Hirata Yusuke, Moriyama Gaku, Watanabe Wataru, Akutsu Koichi, Nakai Maki, Yamada Takeshi, Gemma Akihiko, Uematsu Kazutsugu
Аннотация
Type III collagen is the major protein in the walls of blood vessels and hollow organs; it is decreased in patients with vascular Ehlers-Danlos syndrome (EDS). A 52-year-old man was admitted for severe back pain, and right hemothorax was suspected by chest computed tomography. Immediately after embolization for bleeding bronchial artery, aortic dissection occurred and was treated conservatively in the intensive-care unit. Vascular EDS with a mutation of COL3A1 cDNA (c.3175G>A) was diagnosed. When vascular EDS is suspected, the patient should be treated prophylactically, and a genetic examination should be performed to confirm the diagnosis.