Associates' Presentations
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Gastrointestinal manifestations of heredity hemorrhagic telangiectasia (HHT): Clinical, endoscopic and radiological findings.
S. C. Loo, M.D., (Associate), Medical College of Wisconsin.
Case - Mr. C. is a 41 year old AA who presented with a two week history of lightheadedness, shortness of breath, dyspnea on exertion, and fatigue. He reported moderate alcohol use and a family history of "bleeding problems". Exam was significant for tachycardia, pale oral mucosa, and a liver span of 10-12 cm with no bruits or thrills. Hb was 2.5 mg/dl. EGD showed multiple telangiectasias (3-4 mm) in the proximal duodenum. Colonoscopy showed 2 cm and 8 cm telangiectasia in the cecum and mid-transverse colon respectively. He refused further diagnostic workup prior to discharge.
Discussion - HHT is an autosomal disorder which leads to telangiectasias on the skin and mucosal surfaces. The two most common causes of blood loss are epistaxis and GI bleeding. Epistaxis typically occurs as round, red lesions; sometimes surrounded by an anemic halo. Three different combinations of A-V malformations have been described; 1) AVM between the hepatic artery and vein causing high output failure, 2.) AVM between the portal vein leading to portal hypertension with esophageal varices. Characteristic hepatic angiographic features in HHT include dilation of the hepatic artery and its branches, numerous small telangiectatic lesions scattered throughout the liver and early visualization of the hepatic veins. Dynamic CT scan has the same diagnostic yield as celia angiography. MRI was not found to be superior to CT scan.
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