[HTML][HTML] Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective

A Kritharis, H Al-Samkari, DJ Kuter - Haematologica, 2018 - ncbi.nlm.nih.gov
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu
syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation …

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding …

RF Sidonio, Jr, PC Bryant, J Di Paola… - Expert Review of …, 2023 - Taylor & Francis
Background Excessive or abnormal mucocutaneous bleeding (MCB) may impact all aspects
of the physical and psychosocial wellbeing of those who live with it (PWMCB). The evidence …

ANG2 blockade diminishes proangiogenic cerebrovascular defects associated with models of hereditary hemorrhagic telangiectasia

X Zhou, JC Pucel, A Nomura-Kitabayashi… - … and Vascular Biology, 2023 - Am Heart Assoc
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder
characterized by arteriovenous malformations and blood vessel enlargements. However …

Vascular and lymphatic malformations: perspectives from human and vertebrate studies

HP Janardhan, S Saheera, R Jung… - Circulation research, 2021 - Am Heart Assoc
Vascular malformations, affecting≈ 1% to 1.5% of the population, comprise a spectrum of
developmental patterning defects of capillaries, arteries, veins, and/or lymphatics. The …

Compendium of causative genes and their encoded proteins for common monogenic disorders

TL Apgar, CR Sanders - Protein Science, 2022 - Wiley Online Library
A compendium is presented of inherited monogenic disorders that have a prevalence of> 1:
20,000 in the human population, along with their causative genes and encoded …

Hereditary hemorrhagic telangiectasia: on the brink of a new treatment era?

A Cerrone, E Buscarini, R Berté… - … in Thrombosis and …, 2024 - thieme-connect.com
Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder with highly
variable penetrance, affecting up to 1 in 5,000 individuals. It is characterized by the …

[HTML][HTML] Vascular Biology of arterial aneurysms

D Costa, M Andreucci, N Ielapi, GF Serraino… - Annals of Vascular …, 2023 - Elsevier
Background This review aims to analyze biomolecular and cellular events responsible for
arterial aneurysm formation with particular attention to vascular remodeling that determines …

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

K Kitayama, T Ishiguro, M Komiyama, T Morisaki… - BMC Medical …, 2021 - Springer
Background Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular
disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and …

Hereditary hemorrhagic telangiectasia: success of the Osler calendar for documentation of treatment and course of disease

CT Seebauer, V Freigang, FE Schwan… - Journal of Clinical …, 2021 - mdpi.com
Hereditary hemorrhagic telangiectasia (HHT; Rendu-Osler-Weber syndrome) affects the
capillary and larger vessels, leading to arteriovenous shunts. Epistaxis is the main symptom …

Head and Neck Vascular Anomalies in Children

JS Ruthberg, SM Susarla… - Oral and …, 2024 - oralmaxsurgery.theclinics.com
Vascular anomalies represent a diverse and complex set of conditions that can significantly
impact the health and well-being of patients. Oral and maxillofacial surgeons are commonly …