家族性发病：一例罕见的家族性特发性结肠静脉曲张病例。
It Runs in the Family: A Rare Case of Familial Idiopathic Colonic Varices.
作者信息
Haddadin Rakahn, Akah Ozoemena, Ameen Maryam, Trad George, Ryan John, Gemil Hatim
机构信息
Department of Internal Medicine, HCA Healthcare, MountainView Hospital, 2880 N Tenaya Way, Las Vegas, NV 89128, USA.
Ross University School of Medicine, 10315 USA Today Way, Miramar, FL 33025, USA.
出版信息
J Community Hosp Intern Med Perspect. 2025 May 5;15(3):103-107. doi: 10.55729/2000-9666.1473. eCollection 2025.
BACKGROUND
Colonic varices (CV) remain an extremely rare condition, the usual cause of which is portal hypertension due to liver disease, chronic pancreatitis or malignancy. Here we present a case of familial idiopathic CV in a middle-aged female, complicated by a polyp removal during colonoscopy.
CASE PRESENTATION
A 57-year-old female with a past medical history of 5 months of melena, polyps and hemorrhoids diagnosed with idiopathic CV during diagnostic colonoscopy. She had no prior history of liver disease, pancreatic disease, non-steroidal anti-inflammatory drugs (NSAID) use, or blood thinner use. She was later found to have a family history of the condition.
CONCLUSION
The rarity of this case is of particular concern for clinicians due to its life threatening complication of severe lower gastrointestinal bleed - a true medical emergency. This is particularly difficult in the absence of usual predisposing triggers. Differential diagnoses should be considered in patients that present with rectal bleeding of unknown cause.
背景
结肠静脉曲张（CV）仍然是一种极为罕见的病症，其常见病因是由肝脏疾病、慢性胰腺炎或恶性肿瘤导致的门静脉高压。在此，我们报告一例中年女性家族性特发性CV病例，该病例在结肠镜检查期间因息肉切除而出现并发症。
病例介绍
一名57岁女性，有5个月黑便、息肉和痔疮病史，在诊断性结肠镜检查中被诊断为特发性CV。她既往无肝脏疾病、胰腺疾病、使用非甾体抗炎药（NSAID）或血液稀释剂的病史。后来发现她有该病症的家族病史。
结论
由于该病例存在严重下消化道出血这一危及生命的并发症——一种真正的医疗急症，其罕见性尤其引起临床医生的关注。在没有常见诱发因素的情况下，这尤其棘手。对于出现不明原因直肠出血的患者，应考虑进行鉴别诊断。
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