Clinical practice guideline: nosebleed (epistaxis)

DE Tunkel, S Anne, SC Payne… - … –Head and Neck …, 2020 - Wiley Online Library
Objective Nosebleed, also known as epistaxis, is a common problem that occurs at some
point in at least 60% of people in the United States. While the majority of nosebleeds are …

Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment

CL Shovlin - Blood reviews, 2010 - Elsevier
Hereditary haemorrhagic telangiectasia, inherited as an autosomal dominant trait, affects
approximately 1 in 5000 people. The abnormal vascular structures in HHT result from …

Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia

ME Faughnan, JJ Mager, SW Hetts… - Annals of internal …, 2020 - acpjournals.org
Description: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant
disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of …

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

ME Faughnan, VA Palda, G Garcia-Tsao… - Journal of medical …, 2011 - jmg.bmj.com
Background HHT is an autosomal dominant disease with an estimated prevalence of at least
1/5000 which can frequently be complicated by the presence of clinically significant …

Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output

S Dupuis-Girod, I Ginon, JC Saurin, D Marion, E Guillot… - Jama, 2012 - jamanetwork.com
Context The only treatment available to restore normal cardiac output in patients with
hereditary hemorrhagic telangiectasia (HHT) and cardiac failure is liver transplant. Anti …

Valuing the “burden” and impact of rare diseases: a scoping review

J Delaye, P Cacciatore, A Kole - Frontiers in Pharmacology, 2022 - frontiersin.org
Introduction: Rare diseases (RDs) are a severe, chronic, degenerative and often life-
threatening group of conditions affecting more than 30 million people in Europe. Their …

Quality of life in rare genetic conditions: a systematic review of the literature

JS Cohen, BB Biesecker - … Journal of Medical Genetics Part A, 2010 - Wiley Online Library
Quality of life (QoL) refers to an individual's sense of overall well‐being encompassing
physical, psychological, emotional, social, and spiritual dimensions. Although genetics …

An epistaxis severity score for hereditary hemorrhagic telangiectasia

JB Hoag, P Terry, S Mitchell, D Reh… - The …, 2010 - Wiley Online Library
Abstract Objectives/Hypothesis: Hereditary hemorrhagic telangiectasia (HHT)‐related
epistaxis leads to alterations in social functioning and quality of life. Although more than …

Hereditary haemorrhagic telangiectasia

R Hermann, CL Shovlin, RS Kasthuri, M Serra… - Nature reviews Disease …, 2025 - nature.com
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an
autosomal dominant trait and caused by loss-of-function pathogenic variants in genes …

Intravenous bevacizumab for refractory hereditary hemorrhagic telangiectasia–related epistaxis and gastrointestinal bleeding

VN Iyer, DR Apala, BS Pannu, A Kotecha… - Mayo Clinic …, 2018 - Elsevier
Objective To present a multiyear clinical experience with intravenous bevacizumab for the
management of severe gastrointestinal bleeding and/or epistaxis in patients with hereditary …