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Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia

OBJECTIVE:Gastrointestinal bleeding occurs in a number of patients with hereditary hemorrhagic telangiectasia (HHT) and may lead to a high transfusion need. The aim of this study was to estimate the occurrence and severity of gastrointestinal bleeding in a geographically well defined HHT population.METHODS:All HHT families in the county of Fyn, Denmark, (470,000 population) have been identified. Probands and their first degree relatives, and all descendants from probands for whom one parent had HHT were eligible for inclusion in the study. A total of 77 patients with HHT were identified; of these, 76 patients (mean age: 52 yr) were evaluated and interviewed with regard to gastrointestinal bleeding, that is, a history of either hematemesis or melena. Patients charts were reviewed.RESULTS:A total of 25 HHT patients (33%) had a history of either hematemesis or melena. Of these, 12 (48%) had received blood transfusions. Seven patients had severe bleeding (that is, ≥6 units of blood within 6 months before inclusion in the study). Endoscopy had been performed in 16 of the 25 (64%) patients. Telangiectatic lesions were documented in nine at upper endoscopy and in one at sigmoidoscopy. Telangiectatic lesions were observed in all patients with severe bleeding, but in two patients epistaxis is likely to have contributed to the anemia. Among 51 HHT patients without a history of gastrointestinal bleeding, only five (10%) had previously received blood transfusions; however, none fulfilled the definition of severe bleeding. In the HHT population 29 patients were ≥60 yr old, but all patients with severe bleeding were ≥60 yr.CONCLUSIONS:A history of gastrointestinal bleeding is common in patients with HHT (33%). This study documents that 25% of HHT patients ≥60 yr suffer from severe gastrointestinal bleeding.