Open AccessHereditary haemorrhagic telangiectasia
Author(s) -
Joanne Rimmer,
Valerie J. Lund
Publication year - 2015
Publication title -
rhinology (amsterdam. online)/rhinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.275
H-Index - 57
eISSN - 1996-8604
pISSN - 0300-0729
DOI - 10.4193/rhino14.274
Subject(s) - medicine , telangiectasia , mucocutaneous zone , disease , dermatology , genetic disorder , rare disease , vascular disease , quality of life (healthcare) , pediatrics , intensive care medicine , surgery , pathology , nursing
Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant vascular disease characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. Methodology: The genetic basis and pathophysiology of the disease are discussed. Diagnostic criteria and the clinical course of the condition are considered. The current management options, both medical and surgical, are reviewed. Conclusions: Hereditary haemorrhagic telangiectasia requires specialist treatment for the problems it causes, and is best managed in specialist centres. Epistaxis is often the major symptom, significantly affecting patients' quality of life. An understanding of the available treatment options is therefore important for the otorhinolaryngologist.