HEREDITARY HAEMORRHAGIC TELANGIECTASIA
European Journal of Molecular & Clinical Medicine,
2022, Volume 9, Issue 7, Pages 7333-7337
AbstractHereditary 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
In this case report we present a 67 year old male with epistaxis on and off since 20 years ,aggravated since last few days around 300-400 ml along with generalised weakness who came with family history of similar complaints in 13 members of the family managed with bilateral electrocauterisation of nasal cavities with post op sesame oil application and tab tranexemic acid 250mg OD.Patient is on regular follow up.
Optimal treatment is best delivered a multidisciplinary approach with appropriate diagnosis , screening and local and/or systemic management of lesions.Anti-angiogenic agents such as bevacizumab have emerged as a promising systemic therapy in reducing bleeding complications but are not curative. Other pharmacological agents include iron supplementation, antifibrinolytics and hormone treatment
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