title: Effects of VEGF on phenotypic severity in children with hereditary hemorrhagic telangiectasia.
abstract: The purpose of this study was to estimate vascular endothelial growth factor (VEGF) and transforming growth factor (TGF)-beta1 serum levels in children with hereditary hemorrhagic telangiectasia (HHT) type 1 and type 2 and to correlate them to the presence of arteriovenous malformations (AVMs). High VEGF levels were initially found in an infant who had been hospitalized with intestinal bleeding and suspected HHT. This case led to the evaluation of VEGF and TGF-beta1 by standard enzyme-linked immunosorbent assay in 13 children with HHT and familiarity. Patients were divided into 2 groups on the basis of the presence/absence of pulmonary AVMs. No significant difference was found for VEGF and TGF-beta1 levels in HHT patients versus controls. Among HHT patients, serum levels of VEGF in those without AVM were significantly lower than those with AVM and normal controls. No difference for TGF-beta1 levels was found in these patient subgroups. Low VEGF levels may represent a protection factor against the onset of pulmonary AVMs in HHT children. However, neither VEGF nor TGF-beta1 can be used as biochemical markers for an early diagnosis in HHT. The diagnosis of HHT still requires clinical criteria, which permitted to confirm the presence of the disease in the infant with intestinal bleeding.
authors.affiliation: Department of Biomedicine of Evolutionary Age daggerInternal Medicine and Public Health, HHT Inter-Departmental Centre, University of Bari, Bari, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Giordano
authors.forename: Gennaro M
authors.initials: GM
authors.lastname: Lenato
authors.forename: Paola
authors.initials: P
authors.lastname: Pierucci
authors.forename: Patrizia
authors.initials: P
authors.lastname: Suppressa
authors.forename: Maria
authors.initials: M
authors.lastname: Altomare
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Del Vecchio
authors.forename: Giovanna
authors.initials: G
authors.lastname: Di Bitonto
authors.forename: Domenico
authors.initials: D
authors.lastname: De Mattia
authors.forename: Ginevra
authors.initials: G
authors.lastname: Guanti
authors.forename: Carlo
authors.initials: C
authors.lastname: Sabbà
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008171:Lung Diseases / Q000097:blood* / Q000209:etiology; D008297:Male; D010641:Phenotype; D012720:Severity of Illness Index; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000097:blood* / Q000150:complications; D053773:Transforming Growth Factor beta1 / Q000097:blood*; D042461:Vascular Endothelial Growth Factor A / Q000097:blood*
chemical_list: D053773:Transforming Growth Factor beta1; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A