Hereditary hemorrhagic telangiectasias as a rare cause of recurrent gastrointestinal bleeding.
نویسندگان
چکیده
363 resonance imaging or high-resolution computed tomography. Coronary angiography showed normal coronary vessels. Upper gastrointestinal endoscopy revealed multiple telangiectasias of 2 to 6 mm in diameter in the duodenum and stomach (FIGURE 1B) and single telangiectasias in the esophagus. Capsule endoscopy was performed showing numerous flat telangiectasias distributed mainly in the jejunum and duodenum (FIGURE 1C). Subsequently, the patient underwent 4 push enteroscopy procedures with argon plasma coagulation of the dominant lesions. Since the procedures had a moderate effect, the patient was additionally put on oral estrogen -progesteron hormonal therapy. During the follow-up, the clinical symptoms resolved and control levels of hemoglobin ranged from 11.5 to 12 g/dl. HHT, also known as Osler–Weber–Rendu disease, is a dominantly inherited genetic disorder of blood vessel development, characterized by epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations (AVMs). Mutations in at least 5 genes are associated with HHT; A 52-year-old man was referred to our department because of gastrointestinal bleeding presenting as tarry stools, severe to moderate anemia, and fatigue for over 6 months. His past medical history included recurrent epistaxis and 2 syncopal episodes over the previous 8 years. His father died in his forties of heart attack, and the remaining family history was unremarkable. Several months before admission, the patient underwent endoscopic evaluation in another hospital, showing multiple gastric and duodenal vascular lesions and small hyperplastic colon polyps removed during colonoscopy. At that time, the treatment was confined to blood transfusions and oral iron supplementation. On admission, a physical examination showed red macular telangiectasias on the labial mucosa, tongue (FIGURE 1A), and trunk. Severe normocytic anemia with a hemoglobin level of 7.7 g/dl was found. On the basis of clinical picture, he was diagnosed with hereditary hemorrhagic telangiectasia (HHT) based on the Curaçao criteria.1 No arteriovenous malformations of the brain, lungs, and liver were identified on magnetic
منابع مشابه
Clinical practice recurrent severe obscure gastro intestinal-bleeding in a 20 year old man.
Morbus Osler-Weber-Rendu syndrome also known as Hereditary hemorrhagic telangiectasia (HHT) and Meckel's diverticulum is a rare combination disorder. Our case presented with the recurrent obscure gastrointestinal (GI) bleeding for several years. He came with a massive active lower gastrointestinal bleeding. Ultimatively, he underwent an exploratory laparotomy along with intraoperative colonosco...
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Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and familial occurrence. The cutaneous manifestation appear clinically as punctuate, linear, or splinter-like telangiectasias of the upper body, oral, and n...
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Osler–Weber–Rendu syndrome, also known as Hereditary Hemorrhagic Telangiectasia (HHT), is an autosomal dominant disorder. Telangiectasias and Arterio-Venous Malformations (AVMs) are vascular lesions present in HHT, most commonly causing epistaxis and gastrointestinal bleeding. While epistaxis presents as early as childhood, the gastrointestinal manifestations of HHT develop with increasing age.
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عنوان ژورنال:
- Polskie Archiwum Medycyny Wewnetrznej
دوره 126 5 شماره
صفحات -
تاریخ انتشار 2016