Faughnan, "The use of US health insurance data for surveillance of rare disorders:
Hereditary hemorrhagic telangiectasia," Genetics in Medicine, vol.
Arizmendez NP, Rudmik L, Poetker DM (2015) Intravenous bevacizumab for complications of
hereditary hemorrhagic telangiectasia: a review of the literature.
D'Ovidio F.Memeo M Liver involvement in a large cohort of patients with
hereditary hemorrhagic telangiectasia Echo-color-Doppler vs multislice computed tomography study.
Abbreviations HHT:
Hereditary hemorrhagic telangiectasia PAVMs: Pulmonary arteriovenous malformations.
Diagnosis and treatment of pulmonary arteriovenous malformations in
hereditary hemorrhagic telangiectasia: An overview.
White Jr., "
Hereditary hemorrhagic telangiectasia," The New England Journal of Medicine, vol.
Patients with
hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression.
Ocular manifestations in
hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease).
Molecular screening of ALK1/ACVRL1 and ENG genes in
hereditary hemorrhagic telangiectasia in France.
Most notably, mutations in the endoglin (ENG) gene lead to the autosomal dominant vascular disorder,
hereditary hemorrhagic telangiectasia type 1 (HHT1) [13].
International guidelines for the diagnosis and management of
hereditary hemorrhagic telangiectasia. J Med Genet 2011; 48: 73-87.
Diagnosis is based on the Curacao Criteria established by the Scientific Division of the
Hereditary Hemorrhagic Telangiectasia International Foundation.
