Open AccessOsler-Weber-Rendu disease: A rare cause of recurrent hemoptysis
Author(s) -
Amir M Khoja,
R Jalan,
Dheeraj Jain,
Omkar V Kajale
Publication year - 2016
Publication title -
lung india
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 25
eISSN - 0974-598X
pISSN - 0970-2113
DOI - 10.4103/0970-2113.180878
Subject(s) - medicine , telangiectasia , asymptomatic , mucocutaneous zone , rare disease , dermatology , disease , angiomatosis , bronchiectasis , radiology , surgery , pathology , lung
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.