hereditary hemorrhagic telangiectasia


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hereditary hemorrhagic telangiectasia

[hə′red·ə‚ter·ē ‚hem·ə′raj·ik tə¦lan·jē·ek′tā·zhə]
(medicine)
An inherited disease characterized by dilatation of groups of capillaries and a tendency to hemorrhage. Also known as Osler-Rendu-Weber disease.
References in periodicals archive ?
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.
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.

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