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Optimal management of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler–Weber–Rendu syndrome, is a group of related disorders inherited in an autosomal dominant fashion and characterized by the development of arteriovenous malformations (AVM) in the skin, mucous membranes, and/or internal organs...

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Autores principales: Garg, Neetika, Khunger, Monica, Gupta, Arjun, Kumar, Nilay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4206399/
https://www.ncbi.nlm.nih.gov/pubmed/25342923
http://dx.doi.org/10.2147/JBM.S45295
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author Garg, Neetika
Khunger, Monica
Gupta, Arjun
Kumar, Nilay
author_facet Garg, Neetika
Khunger, Monica
Gupta, Arjun
Kumar, Nilay
author_sort Garg, Neetika
collection PubMed
description Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler–Weber–Rendu syndrome, is a group of related disorders inherited in an autosomal dominant fashion and characterized by the development of arteriovenous malformations (AVM) in the skin, mucous membranes, and/or internal organs such as brain, lungs, and liver. Its prevalence is currently estimated at one in 5,000 to 8,000. Most cases are due to mutations in the endoglin (HHT1) or ACVRLK1 (HHT2) genes. Telangiectasias in nasal and gastrointestinal mucosa generally present with recurrent/chronic bleeding and iron deficiency anemia. Larger AVMs occur in lungs (~40%–60% of affected individuals), liver (~40%–70%), brain (~10%), and spine (~1%). Due to the devastating and potentially fatal complications of some of these lesions (for example, strokes and brain abscesses with pulmonary AVMs), presymptomatic screening and treatment are of utmost importance. However, due to the rarity of this condition, many providers lack an appreciation for the whole gamut of its manifestations and complications, age-dependent penetrance, and marked intrafamilial variation. As a result, HHT remains frequently underdiagnosed and many families do not receive the appropriate screening and treatments. This article provides an overview of the clinical features of HHT, discusses the clinical and genetic diagnostic strategies, and presents an up-to-date review of literature and detailed considerations regarding screening for visceral AVMs, preventive modalities, and treatment options.
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spelling pubmed-42063992014-10-23 Optimal management of hereditary hemorrhagic telangiectasia Garg, Neetika Khunger, Monica Gupta, Arjun Kumar, Nilay J Blood Med Review Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler–Weber–Rendu syndrome, is a group of related disorders inherited in an autosomal dominant fashion and characterized by the development of arteriovenous malformations (AVM) in the skin, mucous membranes, and/or internal organs such as brain, lungs, and liver. Its prevalence is currently estimated at one in 5,000 to 8,000. Most cases are due to mutations in the endoglin (HHT1) or ACVRLK1 (HHT2) genes. Telangiectasias in nasal and gastrointestinal mucosa generally present with recurrent/chronic bleeding and iron deficiency anemia. Larger AVMs occur in lungs (~40%–60% of affected individuals), liver (~40%–70%), brain (~10%), and spine (~1%). Due to the devastating and potentially fatal complications of some of these lesions (for example, strokes and brain abscesses with pulmonary AVMs), presymptomatic screening and treatment are of utmost importance. However, due to the rarity of this condition, many providers lack an appreciation for the whole gamut of its manifestations and complications, age-dependent penetrance, and marked intrafamilial variation. As a result, HHT remains frequently underdiagnosed and many families do not receive the appropriate screening and treatments. This article provides an overview of the clinical features of HHT, discusses the clinical and genetic diagnostic strategies, and presents an up-to-date review of literature and detailed considerations regarding screening for visceral AVMs, preventive modalities, and treatment options. Dove Medical Press 2014-10-15 /pmc/articles/PMC4206399/ /pubmed/25342923 http://dx.doi.org/10.2147/JBM.S45295 Text en © 2014 Garg et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Review
Garg, Neetika
Khunger, Monica
Gupta, Arjun
Kumar, Nilay
Optimal management of hereditary hemorrhagic telangiectasia
title Optimal management of hereditary hemorrhagic telangiectasia
title_full Optimal management of hereditary hemorrhagic telangiectasia
title_fullStr Optimal management of hereditary hemorrhagic telangiectasia
title_full_unstemmed Optimal management of hereditary hemorrhagic telangiectasia
title_short Optimal management of hereditary hemorrhagic telangiectasia
title_sort optimal management of hereditary hemorrhagic telangiectasia
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4206399/
https://www.ncbi.nlm.nih.gov/pubmed/25342923
http://dx.doi.org/10.2147/JBM.S45295
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