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遗传性毛细血管扩张症表现为胃肠道出血,而体表无可见的毛细血管扩张。

Hereditary telangiectasia manifested as gastrointestinal bleeding without external visible telangiectasia.

作者信息

McCaffery T D, Lilly J O

出版信息

Am J Gastroenterol. 1975 Apr;63(4):327-32.

PMID:1079404
Abstract

Gastrointestinal bleeding is one of the most common problems confronting the physician. In most instances, the source of the bleeding is easily identified, e.g., peptic ulcer disease, bleeding esophageal varices or a colonic lesion. Recurrent gastrointestinal bleeding, however, represents one of the major enigmas confronting the practicing physician. The patient experiences intermittent episodes of weakness, easy fatigability and anemia with occult blood in the stool. Multiple barium radiographic examinations and often endoscopy and exploratory laparotomy are unrevealing as to the etiology of the bleeding. We have had occasion to investigate three such patients. Multiple evaluations of these individuals did not reveal the source of the bleeding until many years later--Rendu-Osler-Weber Disease (ROW). At the time of their evaluations these patients did not reveal the usual telangiectatic areas present on the skin and oral mucous membrane. The diagnosis was suggested by the presence of multiple gastric mucosal telangiectasia identified by gastroscopic examination. This report emphasizes the need for thorough endoscopic evaluation of patients with gastrointestinal bleeding and describes the gastroscopic findings that indicated hereditary telangiectasia as the probable source of bleeding from the gastrointestinal tract.

摘要

胃肠道出血是医生面临的最常见问题之一。在大多数情况下,出血来源很容易确定,例如消化性溃疡病、食管静脉曲张出血或结肠病变。然而,反复胃肠道出血是执业医生面临的主要谜团之一。患者会出现间歇性的虚弱、易疲劳和贫血症状,粪便潜血阳性。多次钡剂造影检查,通常还有内镜检查和剖腹探查,都未能揭示出血的病因。我们有机会对三名这样的患者进行调查。对这些患者进行多次评估后,直到多年后才发现出血来源——遗传性出血性毛细血管扩张症(ROW)。在评估时,这些患者并未表现出皮肤和口腔黏膜上常见的毛细血管扩张区域。胃镜检查发现多处胃黏膜毛细血管扩张提示了诊断。本报告强调了对胃肠道出血患者进行全面内镜评估的必要性,并描述了提示遗传性毛细血管扩张症可能是胃肠道出血来源的胃镜检查结果。

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