Hereditary Hemorrhagic Telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia is a familial disease characterized by the presence of telangiectasia of the skin and mucous membranes. It is indicated clinically by recurrent bleeding, most commonly epistaxis. Involvement of multiple systems occurs, and vascular lesions have been recognized in the lips, oral cavity, respiratory tract, alimentary tract, urinary tract, liver, spleen, eye, brain, meninges, spinal cord, and bone. The incidence of gastrointestinal hemorrhage is significant and has proved to be a difficult diagnostic and therapeutic problem. We report here the vascular abnormalities and hemodynamic alterations that have been found in an investigation of gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia (Table I). There are many reports in the literature describing telangiectasia and phlebectasia of various abdominal organs. These lesions have been recognized at the time of gastroscopy and sigmoidoscopy and at surgery and autopsy. We have been able to find only a single report in the radiologic literature which presented angiographic features of vascular pathology in an abdominal organ of a patient with hereditary hemorrhagic telangiectasia. Ranniger and Odman (12) described multiple arteriovenous anastomoses in the liver of such a patient. This case report was subsequently incorporated into a paper that discussed intrahepatic arteriovenous fistulas with pulmonary vascular obstruction (5). One other case with radiographic documentation was reported in the surgical literature. Graham et al. (9) illustrated an aortogram showing an hepatic artery aneurysm with portal vein fistula in a patient with familial hereditary telangiectasia. A preliminary report of the early progress of our investigation is to be published and will probably represent the first composite radiologic review of the visceral angiodysplasias that are an integral part of hereditary hemorrhagic telangiectasia (10). A separate manuscript will present a detailed clinico-angiographic-pathologic correlation (6). The primary vascular lesion of hereditary hemorrhagic telangiectasia involves capillary and venous channels (1–3, 11, 13). The vessel walls are thin and delicate, consisting of a single layer of endothelial cells supported by a fine layer of connective tissue. An elastic lamina is absent. Angiectasia is a prominent feature and vessel tortuosity is common. Coiled, conglomerate vascular masses are commonly referred to as arteriovenous fistulas, but actually represent anastomotic forms of arteriovenous angioma. The fragile walls of the vascular lesions permit bleeding as a response to minimal trauma. Typical telangiectasia may be found on the surface of the liver, kidneys, and intestines. Marked involvement of the gastric and intestinal mucosa is common. The lesions predominate in the submucosa of the gut but may extend into the muscularis externa and also appear as phlebectasia on the serosal surface of the organ.