title: Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.
abstract: OBJECTIVE
  Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. Three causative genes are known: ENG (HHT-1), ACVRL1 (HHT-2), and SMAD4 (mutated in HHT in association with juvenile polyposis). Gastrointestinal bleeding is the most common symptom after epistaxis. The stomach and the duodenum are the main gastrointestinal sites of telangiectases. Our aim was to explore gastrointestinal tract of consecutive HHT patients to assess distribution, number, size, and type of telangiectases in relation to genotype.
  
  
  METHODS
  HHT patients underwent gastroduodenoscopy, video capsule endoscopy, and colonoscopy. Molecular analysis of ENG and ACVRL1 was performed to identify the disease-causing mutation.
  
  
  RESULTS
  Twenty-two patients (13 men; mean age: 59 ± 9 years) were analyzed: 7 with HHT-1, 13 with HHT-2, and 2 undefined. Gastrointestinal telangiectases were identified as follows: at gastroduodenoscopy in 86% of HHT-1 patients and in 77% of HHT-2 patients, at video capsule endoscopy in all HHT-1 patients and in 84% of HHT-2 patients, and at colonoscopy in 1 patient for each group. HHT-1 showed multiple telangiectases with a higher prevalence, more relevant in the duodenum.
  
  
  CONCLUSIONS
  Our data demonstrate extensive involvement of the gastrointestinal tract with a more severe association in HHT-1. Gastroduodenoscopy provides significant information on gastrointestinal involvement, and video capsule endoscopy may be added in selected patients. Colonic polyps/adenomas were identified as occasional findings.
authors.affiliation: Department of Molecular Medicine, General Biology and Medical Genetics, University of Pavia, Pavia, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Canzonieri
authors.affiliation: Gastrointestinal Endoscopy Unit, Foundation I.R.C.C.S. Policlinico San Matteo, Pavia, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Centenara
authors.affiliation: Department of Molecular Medicine, General Biology and Medical Genetics, University of Pavia, Pavia, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Ornati
authors.affiliation: Department of Otorhinolaryngology, Foundation I.R.C.C.S. Policlinico San Matteo, Pavia, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Pagella
authors.affiliation: Department of Otorhinolaryngology, Foundation I.R.C.C.S. Policlinico San Matteo, Pavia, Italy.
authors.forename: Elina
authors.initials: E
authors.lastname: Matti
authors.affiliation: Gastrointestinal Endoscopy Unit, Foundation I.R.C.C.S. Policlinico San Matteo, Pavia, Italy.
authors.forename: Costanza
authors.initials: C
authors.lastname: Alvisi
authors.affiliation: Department of Molecular Medicine, General Biology and Medical Genetics, University of Pavia, Pavia, Italy.
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
authors.affiliation: Gastrointestinal Endoscopy Unit, Foundation I.R.C.C.S. Policlinico San Matteo, Pavia, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Perego
authors.affiliation: Department of Molecular Medicine, General Biology and Medical Genetics, University of Pavia, Pavia, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Olivieri
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D018256:Adenomatous Polyps / Q000150:complications / Q000175:diagnosis; D000368:Aged; D015703:Antigens, CD / Q000235:genetics*; D053704:Capsule Endoscopy; D000071063:Endoglin; D016099:Endoscopy, Gastrointestinal; D005260:Female; D041981:Gastrointestinal Tract / Q000473:pathology*; D005838:Genotype; D006801:Humans; D033162:Incidental Findings; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011956:Receptors, Cell Surface / Q000235:genetics*; D051901:Smad4 Protein / Q000235:genetics*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C497796:SMAD4 protein, human; D051901:Smad4 Protein; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II