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...

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Main Authors: Amir M Khoja, Rahul K Jalan, Dheeraj L Jain, Omkar V Kajale
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Lung India
Subjects:
Online Access:http://www.lungindia.com/article.asp?issn=0970-2113;year=2016;volume=33;issue=3;spage=313;epage=316;aulast=Khoja
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author Amir M Khoja
Rahul K Jalan
Dheeraj L Jain
Omkar V Kajale
author_facet Amir M Khoja
Rahul K Jalan
Dheeraj L Jain
Omkar V Kajale
author_sort Amir M Khoja
collection DOAJ
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.
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spelling doaj.art-900e3d29a9674f729e00c337783778ab2022-12-21T19:53:58ZengWolters Kluwer Medknow PublicationsLung India0970-21130974-598X2016-01-0133331331610.4103/0970-2113.180878Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysisAmir M KhojaRahul K JalanDheeraj L JainOmkar V KajaleOsler-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.http://www.lungindia.com/article.asp?issn=0970-2113;year=2016;volume=33;issue=3;spage=313;epage=316;aulast=KhojaBronchial artery embolizationhemoptysisOsler-Weber-Rendu diseasetelangiectasia
spellingShingle Amir M Khoja
Rahul K Jalan
Dheeraj L Jain
Omkar V Kajale
Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis
Lung India
Bronchial artery embolization
hemoptysis
Osler-Weber-Rendu disease
telangiectasia
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 Bronchial artery embolization
hemoptysis
Osler-Weber-Rendu disease
telangiectasia
url http://www.lungindia.com/article.asp?issn=0970-2113;year=2016;volume=33;issue=3;spage=313;epage=316;aulast=Khoja
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