title: Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia.
abstract: BACKGROUND
  Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess.
  
  
  OBJECTIVE
  To estimate the risk of cerebral abscess among patients with HHT.
  
  
  METHODS
  All patients with HHT included in the Danish HHT data base, between January 1995 and October 2012, have been clinically evaluated for the presence of neurological symptoms and history of previous cerebral abscess.
  
  
  RESULTS
  A total of 337 patients with HHT have been included in the Danish database. Of these, 264 were screened for the presence of PAVM. In 117 patients, a PAVM was diagnosed; among these, we identified nine patients with a history of cerebral abscess. The prevalence of cerebral abscess among patients with HHT and PAVM was therefore 7.8%. The patients with a history of cerebral abscess were genetically evaluated, and seven had ENG mutations, one had an ALK1 mutation, and in one case, a mutation could not be identified.
  
  
  CONCLUSIONS
  Patients with untreated PAVM have a considerable risk of sustaining cerebral abscesses. A cerebral abscess may be the first symptom leading to an HHT diagnosis. Patients with unexplained cerebral abscess should be evaluated for HHT and PAVM.
authors: Department of Otorhinolaryngology, Odense University Hospital, Odense, Denmark.
authors: A D
authors: AD
authors: Kjeldsen
authors: P M
authors: PM
authors: Tørring
authors: H
authors: H
authors: Nissen
authors: P E
authors: PE
authors: Andersen
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics; D000328:Adult; D000792:Angiography; D015703:Antigens, CD / Q000235:genetics; D001164:Arteriovenous Fistula / Q000175:diagnosis / Q000453:epidemiology; D001922:Brain Abscess / Q000453:epidemiology*; D004252:DNA Mutational Analysis; D003718:Denmark; D004452:Echocardiography; D000071063:Endoglin; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011651:Pulmonary Artery / Q000002:abnormalities; D011667:Pulmonary Veins / Q000002:abnormalities; D011956:Receptors, Cell Surface / Q000235:genetics; D012189:Retrospective Studies; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000453:epidemiology*; D055815:Young Adult
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II
keywords: cerebral abscess; hereditary haemorrhagic telangiectasia; pulmonary arteriovenous malformation; screening