title: Hepatic angiodynamic profile in paediatric patients with hereditary haemorrhagic telangiectasia type 1 and type 2.
abstract: BACKGROUND
  Liver involvement is a common manifestation of hereditary haemorrhagic telangiectasia (HHT). Although a number of studies have been carried out in adult patients, no study has ever been focused on investigating HHT-related hepatic involvement in paediatric patients. The present study aimed for the first time to systematically estimate the prevalence of HHT-associated liver involvement and to characterize HHT-associated hepatic angiodynamic features in paediatric age.
  
  
  METHODS
  The study was designed as a cross-sectional survey in an HHT paediatric cohort, subclassified as HHT1 and HHT2 according to the mutated gene. The evaluation of the angiodynamic profile was performed by duplex ultrasound examination. Investigation by multi-slice computed tomography (MSCT) or magnetic resonance angiography (MRA) was performed in patients >12 years.
  
  
  RESULTS
  MSCT/MRA examination disclosed silent hepatic involvement in 7/20 (35.0 %) children, and nodular regenerative hyperplasia in two cases. Diameter of common hepatic artery was significantly larger in HHT2 (0.45 ± 0.15 cm) compared to HHT1 (0.33 ± 0.09, p < 0.01) and control children (0.32 ± 0.08, p < 0.05). None of the patients had clinical manifestations of liver involvement. Angiodynamic profiles were different between paediatric and adult HHT patients.
  
  
  CONCLUSIONS
  Liver involvement can be detected in paediatric HHT patients, albeit with a lower frequency compared to adults. Paediatric HHT2 children show a higher frequency of liver involvement and a trend to hepatic artery dilation when compared to HHT1 children.
authors.affiliation: 1 Department of Biomedical Science and Human Oncology-Pediatric Unit, Policlinico Hospital - University of Bari Aldo Moro, Italy.|a These authors should be considered joint first authors of this work.
authors.forename: Paola
authors.initials: P
authors.lastname: Giordano
authors.affiliation: 1 Department of Biomedical Science and Human Oncology-Pediatric Unit, Policlinico Hospital - University of Bari Aldo Moro, Italy.|a These authors should be considered joint first authors of this work.
authors.forename: Mariantonietta
authors.initials: M
authors.lastname: Francavilla
authors.affiliation: 2 A. Murri Internal Medicine Unit, Policlinico Hospital - University of Bari Aldo Moro, Bari, Italy.|a These authors should be considered joint first authors of this work.
authors.forename: Paolo
authors.initials: P
authors.lastname: Buonamico
authors.affiliation: 3 Center for Rare Diseases, Interdepartmental Center for Hereditary Haemorrhagic Telangiectasia, C. Frugoni Internal Medicine Unit, Policlinico Hospital - University of Bari Aldo Moro, Bari, Italy.|a These authors should be considered joint first authors of this work.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Suppressa
authors.affiliation: 3 Center for Rare Diseases, Interdepartmental Center for Hereditary Haemorrhagic Telangiectasia, C. Frugoni Internal Medicine Unit, Policlinico Hospital - University of Bari Aldo Moro, Bari, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Lastella
authors.affiliation: 1 Department of Biomedical Science and Human Oncology-Pediatric Unit, Policlinico Hospital - University of Bari Aldo Moro, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Sangerardi
authors.affiliation: 1 Department of Biomedical Science and Human Oncology-Pediatric Unit, Policlinico Hospital - University of Bari Aldo Moro, Italy.
authors.forename: Vito L
authors.initials: VL
authors.lastname: Miniello
authors.affiliation: 4 Interdisciplinary Department of Medicine-Radiology Unit, Policlinico Hospital - University of Bari Aldo Moro, Bari, Italy.
authors.forename: Arnaldo
authors.initials: A
authors.lastname: Scardapane
authors.affiliation: 3 Center for Rare Diseases, Interdepartmental Center for Hereditary Haemorrhagic Telangiectasia, C. Frugoni Internal Medicine Unit, Policlinico Hospital - University of Bari Aldo Moro, Bari, Italy.
authors.forename: Gennaro M
authors.initials: GM
authors.lastname: Lenato
authors.affiliation: 3 Center for Rare Diseases, Interdepartmental Center for Hereditary Haemorrhagic Telangiectasia, C. Frugoni Internal Medicine Unit, Policlinico Hospital - University of Bari Aldo Moro, Bari, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Sabbà
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics; D000293:Adolescent; D000367:Age Factors; D001165:Arteriovenous Malformations / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D058070:Asymptomatic Diseases; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D000072226:Computed Tomography Angiography / Q000379:methods; D003430:Cross-Sectional Studies; D004108:Dilatation, Pathologic; D018450:Disease Progression; D000071063:Endoglin / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006499:Hepatic Artery / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008099:Liver / Q000098:blood supply*; D018810:Magnetic Resonance Angiography; D008297:Male; D061330:Multidetector Computed Tomography; D009154:Mutation; D010641:Phenotype; D011169:Portal Vein / Q000002:abnormalities / Q000000981:diagnostic imaging; D011237:Predictive Value of Tests; D015995:Prevalence; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D013997:Time Factors; D018616:Ultrasonography, Doppler, Duplex
chemical_list: C064206:ENG protein, human; D000071063:Endoglin; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II
keywords: Hereditary haemorrhagic telangiectasia; hepatic arterio-venous malformations; hepatic artery diameter; hyperdynamic state