Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Khoja, Amir M, Jalan, Rahul K, Jain, Dheeraj L, Kajale, Omkar V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
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
_version_ 1782430672775806976
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
work_keys_str_mv AT khojaamirm oslerweberrendudiseaseararecauseofrecurrenthemoptysis
AT jalanrahulk oslerweberrendudiseaseararecauseofrecurrenthemoptysis
AT jaindheerajl oslerweberrendudiseaseararecauseofrecurrenthemoptysis
AT kajaleomkarv oslerweberrendudiseaseararecauseofrecurrenthemoptysis