Online ISSN: 2515-8260

HEREDITARY HAEMORRHAGIC TELANGIECTASIA

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Dr Arpita Krishna1 ,Dr Gopika Balachandran2 , Dr Manu S Babu3 , Dr Mayur Ingale4 , Dr Yash Jain

Abstract

Hereditary hemorrhagic telangiectasia or Osler Weber Rendu syndrome is an autosomal dominant vascular disorder that affects multiple systems. It is characterised by skin and mucosal telangiectasias and arteriovenous malformations. Hereditary hemorrhagic telangiectasia is a disease more commonly associated with significant morbidity than mortality.It is a rare genetic disorder known for its debilitating symptoms.More than 90% of patients with HHT experience epistaxis,which may cause anaemia if uncontrolled(1,2) and they average upto 18 bleeds per month. Patients also present with arteriovenous malformations in various organs and suffer from many complications including bleeding ,anemia,iron-deficiency, and high output high failure. Families with the same mutation exhibit considerable phenotypic variation

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