title: Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT).
abstract: BACKGROUND
  Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease. HHT is characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs) and neurological symptoms.
  
  
  OBJECTIVE
  To estimate (i) the prevalence of PAVM, and (ii) the occurrence of neurological symptoms in a geographical well-defined population of HHT patients.
  
  
  METHODS
  HHT family members were invited to a clinical examination including registration of HHT manifestations, screening for pulmonary arteriovenous malformations and neurological evaluation. Two groups served as controls: (i) first-degree relatives without any signs of HHT; and (ii) age- and gender-matched controls.
  
  
  METHODS
  Odense University Hospital.
  
  
  METHODS
  HHT patients identified in a cross-sectional family survey carried out in the County of Fyn, Denmark.
  
  
  RESULTS
  Included in the study were 169 HHT family members representing 24 families. They included both HHT patients and their first-degree relatives. The criteria of HHT were fulfilled in 75 participants; of these, 59 had a screening procedure performed, and PAVMs were demonstrated at pulmonary angiography (PA) in 18. Seven of the HHT patients had a history of cerebral stroke, compared with none of their healthy first-degree relatives.
  
  
  CONCLUSIONS
  The prevalence of PAVM was 24% amongst HHT patients. The study confirmed an increased prevalence of neurological symptoms amongst HHT patients; the odds ratio was estimated to be 7.6. In order to enable prevention of these complications, screening for PAVM should become an integral part of the medical care for HHT patients.
authors.affiliation: Genetic Epidemiologic Research Unit, Odense University, Odense, Denmark. a.d.kjeldsen@ishmed.ou.dk
authors.forename: A D
authors.initials: AD
authors.lastname: Kjeldsen
authors.forename: H
authors.initials: H
authors.lastname: Oxhøj
authors.forename: P E
authors.initials: PE
authors.lastname: Andersen
authors.forename: A
authors.initials: A
authors.lastname: Green
authors.forename: P
authors.initials: P
authors.lastname: Vase
mesh_terms: D000328:Adult; D000368:Aged; D001165:Arteriovenous Malformations / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D003718:Denmark / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D015995:Prevalence; D011651:Pulmonary Artery / Q000002:abnormalities*; D011667:Pulmonary Veins / Q000002:abnormalities*; D020521:Stroke / Q000453:epidemiology* / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications*