title: Hereditary haemorrhagic telangiectasia, an Australian cohort: clinical and investigative features.
abstract: OBJECTIVE
  The present study aims to describe the phenotypic features of patients with hereditary haemorrhagic telangiectasia (HHT) seen at Royal Melbourne Hospital, Victoria, Australia, and to customise a protocol for surveillance of patients with HHT.
  
  
  METHODS
  This is a retrospective study in a tertiary referral hospital of all patients referred to the Clinical Genetics Service between 2007 and 2011 with a suspected diagnosis of HHT. Data abstracted from patient clinical records were analysed for clinical features, types of HHT and genetic testing results where available.
  
  
  RESULTS
  Our cohort comprising 40 females and 23 males patients was assessed using the Curacao criteria. Twenty-two patients fulfilled the criteria for a definite diagnosis, 30 had a possible diagnosis, and 11 patients were assessed as unlikely to have HHT at the time of data analysis. Seventeen patients had pulmonary arteriovenous malformations (AVM), five had cerebral AVM, five had hepatic AVM, three had confirmed bowel telangiectasia, and one patient had a pancreatic AVM. Two female patients with HHT had complicated pregnancies during their follow up with us. Three families had mutations in the endoglin (ENG gene), three had mutations in the ACVRL1 gene, and two families had mutations in the SMAD4 gene.
  
  
  CONCLUSIONS
  HHT is a multisystemic disorder and needs involvement of a team with experience in managing patients with HHT.
authors.affiliation: Department of Genetics, Royal Melbourne Hospital, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Salaria
authors.forename: J
authors.initials: J
authors.lastname: Taylor
authors.forename: M
authors.initials: M
authors.lastname: Bogwitz
authors.forename: I
authors.initials: I
authors.lastname: Winship
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001315:Australia / Q000453:epidemiology; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000453:epidemiology* / Q000628:therapy; D014739:Victoria / Q000453:epidemiology; D055815:Young Adult
keywords: ACVRL1 gene; ENG gene; HHT; SMAD4 gene; arteriovenous malformation (AVM); hereditary haemorrhagic telangiectasia