一个独特的表现家族性异常性结肠
John Gallagher1, Bill Quach2, Tomoki Sempokuya2
1Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE.
ACG case reports journal
|November 6, 2023
概括
这项研究报告了结肠静脉,这是一种罕见的结肠静脉扩张的疾病,偶然在一个患有西格腺癌的妇女身上发现. 她的女儿也患有类似的静脉,这表明可能是遗传原因.
科学领域:
- 胃肠病学 胃肠病学
- 血管医学 血管医学
- 遗传学 遗传学 是一个
背景情况:
- 结肠静脉是一种异常的,在结肠中扩大的静脉.
- 它们通常发生在门高血压的次要作用下,通常与肝硬化有关.
- 患者可能出现胃肠道出血或贫血.
研究的目的:
- 报告一种罕见的异常性结肠静脉瘤病例.
- 为了调查一个潜在的遗传联系在一个母亲和女儿的结肠静脉.
- 讨论在患有西格状腺癌的患者中偶发性结肠静脉瘤的影响.
主要方法:
- 进行了诊断性结肠镜检查,以查西格腺癌.
- 检查了患者病史和家族病史.
- 评估了门户压力梯度.
主要成果:
- 在一个患有西格腺癌的54岁妇女身上偶然发现了结肠静脉.
- 患者的门压梯度是正常的.
- 她38岁的女儿出现了类似的结肠静脉瘤.
结论:
- 异常性结肠静脉瘤可以在没有肝硬化或 portal 压力升高的情况下发生.
- 这种家族性发生表明,结肠静脉的潜在遗传病因.
- 对于无法解释的结肠变节,可能需要对遗传因素进行进一步的调查.
相关概念视频
Esophageal Varices-I: Introduction
153
Esophageal varices are dilated, tortuous veins which are found mainly in the submucosa of the lower esophagus but which may also appear higher up or extend into the stomach. They develop due to increased pressure in the portal venous system, often as a result of liver cirrhosis. This condition scars and damages the liver, impeding normal blood flow through the portal vein. To compensate, blood seeks alternative pathways, forming fragile new vessels (varices) in the esophagus and stomach. These...
153
Esophageal Varices-II: Clinical Features and Management
73
Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
73
Varicose Veins I: Introduction
9
Varicose veins, or varicosities, are abnormally dilated and twisted superficial veins caused by venous valve incompetence. This condition commonly affects the lower extremities, especially the saphenous veins, due to the higher pressure from prolonged standing and walking. However, varicosities can also occur in other areas, such as the esophagus, vulva, spermatic cords, and anorectal region.Etiology and typesPrimary varicose veins, often idiopathic, are more common in women due to inherent...
9
Varicose Veins II: Diagnostic Studies and Interprofessional Care
14
Varicose veins, or varicosities, develop when the valves in the veins, which control blood flow, weaken or damage. It causes blood to pool and the veins to enlarge. Understanding the clinical manifestations, diagnostic approaches, and management options for varicose veins is crucial for effective treatment and relief.Clinical manifestationsClinical manifestations of varicose veins include a heavy, achy feeling or pain after prolonged standing or sitting. This discomfort can often be relieved by...
14
Barrett Esophagus-II: Clinical Manifestations and Management
164
Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
164
Esophageal Strictures-II: Clinical Features and Management
77
Patients with esophageal strictures often experience a range of symptoms. Initially, they may have difficulty swallowing solid foods, which can progress to include liquids. Additional symptoms may involve chest pain or discomfort, regurgitating food and fluids, heartburn, unintentional weight loss, coughing or choking during meals, and hoarseness.
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
77


