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 …

Hereditary hemorrhagic telangiectasia: the convergence of genotype, phenotype, and imaging in modern diagnosis and management of a multisystem disease

SW Hetts, JT Shieh, MA Ohliger, MB Conrad - Radiology, 2021 - pubs.rsna.org
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that
manifests as vascular malformations in the brain, lung, liver, gastrointestinal tract, nasal …

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 …

European Reference Network for Rare Vascular Diseases (VASCERN): when and how to use intravenous bevacizumab in hereditary haemorrhagic telangiectasia …

S Dupuis-Girod, CL Shovlin, AD Kjeldsen… - European Journal of …, 2022 - Elsevier
Hereditary haemorrhagic telangiectasia (HHT) is a rare vascular multisystemic disease that
leads to epistaxis, anaemia due to blood loss, and arteriovenous malformations (AVMs) in …

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

MS Clancy, S Palmer, S Olitsky, C Crocioni… - Annals of internal …, 2021 - acpjournals.org
IN RESPONSE: As leaders of the International HHT Guidelines process, we appreciate the
opportunity to respond to the comment from our colleague Prof. Dr. med. Geisthoff on 2 …

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 …

Comparing characteristics and treatment of brain vascular malformations in children and adults with HHT

A Kilian, GA Latino, AJ White, F Ratjen… - Journal of clinical …, 2023 - mdpi.com
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease
characterized by the development of vascular malformations (VMs) in organs such as the …

Hereditary hemorrhagic telangiectasia in pediatric age: focus on genetics and diagnosis

C Danesino, C Cantarini, C Olivieri - Pediatric Reports, 2023 - mdpi.com
Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu–Osler–Weber Syndrome (ROW) is
an autosomal dominant vascular disease, with an estimated prevalence of 1: 5000. Genes …

Current practice: rationale for screening children with hereditary hemorrhagic telangiectasia for brain vascular malformations

LA Beslow, AJ White, T Krings, AM Hammill… - American Journal of …, 2024 - ajnr.org
BACKGROUND: Hereditary hemorrhagic telangiectasia is an autosomal dominant vascular
dysplasia characterized by mucocutaneous telangiectasias, recurrent epistaxis, and organ …