title: Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.
abstract: BACKGROUND
  Hereditary hemorrhagic telangiectasia is a genetic disease characterized by teleangiectasias involving virtually every organ. There are limited data in the literature regarding the natural history of liver vascular malformations in hemorrhagic telangiectasia and their associated morbidity and mortality.
  
  
  OBJECTIVE
  This prospective cohort study sought to assess the outcome of liver involvement in hereditary hemorrhagic telangiectasia patients.
  
  
  METHODS
  We analyzed 16 years of surveillance data from a tertiary hereditary hemorrhagic telangiectasia referral center in Italy. We considered for inclusion in this study 502 consecutive Italian patients at risk of hereditary hemorrhagic telangiectasia who presented at the hereditary hemorrhagic telangiectasia referral center and underwent a multidisciplinary screening protocol for the diagnosis of hereditary hemorrhagic telangiectasia. Of the 502 individuals assessed in the center, 154 had hepatic vascular malformations and were the subject of the study; 198 patients with hereditary hemorrhagic telangiectasia and without hepatic vascular malformations were the controls. Additionally, we report the response to treatment of patients with complicated hepatic vascular malformations.
  
  
  RESULTS
  The 154 patients were included and followed for a median period of 44 months (range 12-181); of these, eight (5.2%) died from VM-related complications and 39 (25.3%) experienced complications. The average incidence rates of death and complications were 1.1 and 3.6 per 100 person-years, respectively. The median overall survival and event-free survival after diagnosis were 175 and 90 months, respectively. The rate of complete response to therapy was 63%.
  
  
  CONCLUSIONS
  This study shows that substantial morbidity and mortality are associated with liver vascular malformations in hereditary hemorrhagic telangiectasia patients.
authors.affiliation: Gastroenterology Department, HHT Center, Maggiore Hospital, Largo Dossena 2, 26013, Crema, Italy. ebuscarini@rim.it
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Buscarini
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Leandro
authors.forename: Dario
authors.initials: D
authors.lastname: Conte
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
authors.forename: Erica
authors.initials: E
authors.lastname: Daina
authors.forename: Guido
authors.initials: G
authors.lastname: Manfredi
authors.forename: Guido
authors.initials: G
authors.lastname: Lupinacci
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Brambilla
authors.forename: Fernanda
authors.initials: F
authors.lastname: Menozzi
authors.forename: Federico
authors.initials: F
authors.lastname: De Grazia
authors.forename: Pietro
authors.initials: P
authors.lastname: Gazzaniga
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Inama
authors.forename: Roberto
authors.initials: R
authors.lastname: Bonardi
authors.forename: Pasquale
authors.initials: P
authors.lastname: Blotta
authors.forename: Pierangelo
authors.initials: P
authors.lastname: Forner
authors.forename: Carla
authors.initials: C
authors.lastname: Olivieri
authors.forename: Annalisa
authors.initials: A
authors.lastname: Perna
authors.forename: Maurizio
authors.initials: M
authors.lastname: Grosso
authors.forename: Giacomo
authors.initials: G
authors.lastname: Pongiglione
authors.forename: Edoardo
authors.initials: E
authors.lastname: Boccardi
authors.forename: Fabio
authors.initials: F
authors.lastname: Pagella
authors.forename: Giorgio
authors.initials: G
authors.lastname: Rossi
authors.forename: Alessandro
authors.initials: A
authors.lastname: Zambelli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001165:Arteriovenous Malformations / Q000150:complications / Q000175:diagnosis / Q000401:mortality* / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D005260:Female; D006499:Hepatic Artery / Q000002:abnormalities*; D006503:Hepatic Veins / Q000002:abnormalities*; D006801:Humans; D008099:Liver / Q000098:blood supply*; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis / Q000401:mortality* / Q000628:therapy; D016896:Treatment Outcome; D055815:Young Adult