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Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis
Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant condition causing systemic fibrovascular dysplasia. It has an incidence of 1-2/100,000. Phenotypic variation is extreme ranging from asymptomatic to severely symptomatic, from cases with no o...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857569/ https://www.ncbi.nlm.nih.gov/pubmed/27185997 http://dx.doi.org/10.4103/0970-2113.180878 |
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author | Khoja, Amir M Jalan, Rahul K Jain, Dheeraj L Kajale, Omkar V |
author_facet | Khoja, Amir M Jalan, Rahul K Jain, Dheeraj L Kajale, Omkar V |
author_sort | Khoja, Amir M |
collection | PubMed |
description | Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant condition causing systemic fibrovascular dysplasia. It has an incidence of 1-2/100,000. Phenotypic variation is extreme ranging from asymptomatic to severely symptomatic, from cases with no or few mucocutaneous lesions to those with diffuse cutaneous telangiectasia. We discuss a case of Osler-Weber-Rendu disease causing diffuse cutaneous telangiectasia and hemoptysis. The patient presented with complaints of hemoptysis and was extensively examined and investigated before being diagnosed with Osler-Weber-Rendu disease. We successfully managed the patient's hemoptysis by bronchial artery embolization. This case emphasizes the need for careful examination and investigation and to consider such rare diseases when all the common causes of hemoptysis are ruled out. An early and proper diagnosis will lead to more effective management of such a rare disease with few treatment options available. |
format | Online Article Text |
id | pubmed-4857569 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-48575692016-05-16 Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis Khoja, Amir M Jalan, Rahul K Jain, Dheeraj L Kajale, Omkar V Lung India Case Report Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant condition causing systemic fibrovascular dysplasia. It has an incidence of 1-2/100,000. Phenotypic variation is extreme ranging from asymptomatic to severely symptomatic, from cases with no or few mucocutaneous lesions to those with diffuse cutaneous telangiectasia. We discuss a case of Osler-Weber-Rendu disease causing diffuse cutaneous telangiectasia and hemoptysis. The patient presented with complaints of hemoptysis and was extensively examined and investigated before being diagnosed with Osler-Weber-Rendu disease. We successfully managed the patient's hemoptysis by bronchial artery embolization. This case emphasizes the need for careful examination and investigation and to consider such rare diseases when all the common causes of hemoptysis are ruled out. An early and proper diagnosis will lead to more effective management of such a rare disease with few treatment options available. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4857569/ /pubmed/27185997 http://dx.doi.org/10.4103/0970-2113.180878 Text en Copyright: © Lung India http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Khoja, Amir M Jalan, Rahul K Jain, Dheeraj L Kajale, Omkar V Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis |
title | Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis |
title_full | Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis |
title_fullStr | Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis |
title_full_unstemmed | Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis |
title_short | Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis |
title_sort | osler-weber-rendu disease: a rare cause of recurrent hemoptysis |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857569/ https://www.ncbi.nlm.nih.gov/pubmed/27185997 http://dx.doi.org/10.4103/0970-2113.180878 |
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