Integration of clinical parameters, genotype and epistaxis severity score to guide treatment for hereditary hemorrhagic telangiectasia associated bleeding

Integration of clinical parameters, genotype and epistaxis severity score to guide treatment for hereditary hemorrhagic telangiectasia associated bleeding

Abstract Background Hereditary Hemorrhagic Telangiectasia (HHT) is a rare inherited disorder characterized by development of mucocutaneous telangiectases and visceral organ arteriovenous malformations, which can lead to recurrent, spontaneous bleeding and development of iron deficiency anemia. The p...

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Bibliographic Details
Main Authors: Joan D. Beckman, Quefeng Li, Samuel T. Hester, Ofri Leitner, Karen L. Smith, Raj S. Kasthuri
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Telangiectasia, hereditary hemorrhagic
Anemia
Epistaxis, Osler-Rendu-weber disease
ACVRL1 protein, human
Endoglin
Iron
Online Access:http://link.springer.com/article/10.1186/s13023-020-01453-1

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http://link.springer.com/article/10.1186/s13023-020-01453-1

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