Hereditary hemorrhagic telangiectasia: systemic therapies, guidelines, and an evolving standard of care

H Al-Samkari - Blood, The Journal of the American Society of …, 2021 - ashpublications.org
Hereditary hemorrhagic telangiectasia (HHT) management is evolving because of the
emergence and development of antiangiogenic therapies to eliminate bleeding …

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 …

[HTML][HTML] Hereditary hemorrhagic telangiectasia

J McDonald, DA Stevenson - 2021 - europepmc.org
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple
arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct …

The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care

CL Shovlin, E Buscarini, C Sabbà, HJ Mager… - European Journal of …, 2022 - Elsevier
Hereditary haemorrhagic telangiectasia (HHT) is a complex, multisystemic vascular
dysplasia affecting approximately 85,000 European Citizens. In 2016, eight founding centres …

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

CL Shovlin, I Simeoni, K Downes… - Blood, The Journal …, 2020 - ashpublications.org
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia.
Care delivery for HHT patients is impeded by the need for laborious, repeated phenotyping …

Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu disease)

Y Alkhalid, Z Darji, R Shenkar, M Clancy… - Vascular …, 2023 - journals.sagepub.com
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease,
is a rare disorder with a case prevalence as high as one in 5000, causing arteriovenous …

Ischemic stroke and pulmonary arteriovenous malformations: a review

KK Topiwala, SD Patel, JL Saver, CD Streib… - Neurology, 2022 - AAN Enterprises
The potential of covert pulmonary arteriovenous malformations (PAVMs) to cause early
onset, preventable ischemic strokes is not well known to neurologists. This is evident by their …

Central nervous system vascular malformations: a clinical review

B Sabayan, C Lineback, A Viswanathan… - Annals of clinical …, 2021 - Wiley Online Library
CNS vascular malformation is an umbrella term that encompasses a wide variety of
pathologies, with a wide range of therapeutic and diagnostic importance. This range spans …

Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation

KE Joyce, E Onabanjo, S Brownlow, F Nur… - Blood …, 2022 - ashpublications.org
The abnormal vascular structures of hereditary hemorrhagic telangiectasia (HHT) often
cause severe anemia due to recurrent hemorrhage, but HHT causal genes do not predict the …

[HTML][HTML] Safety, tolerability, and effectiveness of anticoagulation and antiplatelet therapy in hereditary hemorrhagic telangiectasia

ZM Virk, E Zhang, J Rodriguez-Lopez, A Witkin… - Journal of Thrombosis …, 2023 - Elsevier
Background Antithrombotic therapy (anticoagulation and antiplatelet therapy) is frequently
needed in patients with hereditary hemorrhagic telangiectasia (HHT); however, data …