遗传性出血性毛细血管扩张症相关小肠血管扩张症致慢性消化道出血1例报告及文献复习

A Case Report of Chronic Gastrointestinal Bleeding Caused by Hereditary Hemorrhagic Telangiectasia-Related Small Intestinal Vascular Ectasia and Literature Review

摘要: 遗传性出血性毛细血管扩张症(Hereditary Hemorrhagic Telangiectasia, HHT)是一种常染色体显性遗传性血管发育异常疾病，常累及消化道并导致慢性隐匿性出血与难治性贫血。小肠血管扩张症因其部位隐蔽，早期诊断困难，治疗策略需个体化。本文报道1例51岁男性患者，以面色苍白、乏力10余年，反复贫血为主要表现，家族多名成员存在贫血及鼻出血史。首次入院检查提示重度贫血、粪便隐血阳性，胶囊内镜示小肠多发毛细血管扩张、溃疡及隆起样病变。予保守治疗无效后行腹腔镜下小肠部分切除术，术后病理证实空肠血管扩张症。术后2年贫血复发，胃镜示十二指肠多发毛细血管扩张灶，基因检测检出ENG基因疑似致病变异，确诊HHT1型。予沙利度胺治疗，患者出血停止、血红蛋白明显回升。本例提示，对伴家族史的慢性难治性缺铁性贫血患者，应警惕HHT相关小肠血管扩张症；胶囊内镜及基因检测有助于早期确诊；手术与抗血管生成药物如沙利度胺可作为个体化治疗方案，临床疗效确切。

Abstract: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular dysplasia that frequently involves the gastrointestinal tract and causes chronic occult bleeding and refractory anemia. Small intestinal vascular ectasia is difficult to diagnose early due to its obscure location, and treatment should be individualized. We present a 51-year-old male with a 10-year history of pallor, fatigue, and recurrent anemia, accompanied by a family history of anemia and epistaxis. Initial evaluation showed severe iron-deficiency anemia and positive fecal occult blood. Capsule endoscopy revealed multiple telangiectasias, ulcers, and nodular lesions in the small intestine. Laparoscopic partial small bowel resection was performed after ineffective conservative management, and pathological examination confirmed jejunal vascular ectasia. Anemia relapsed 2 years postoperatively. Gastroscopy identified multiple telangiectatic lesions in the duodenum, and genetic testing detected a likely pathogenic variant in the ENG gene, confirming HHT type 1. Treatment with thalidomide resulted in incomplete cessation of bleeding and a marked elevation in hemoglobin level. This case indicates that HHT-related small intestinal vascular ectasias should be highly suspected in patients with chronic refractory iron-deficiency anemia and a positive family history. Capsule endoscopy and genetic testing facilitate early diagnosis. Surgical resection and anti-angiogenic therapy with thalidomide are effective individualized strategies with favorable clinical outcomes.