Background

“xxx” presented with epistaxis in 2019 to the Royal Victoria Infirmary paediatric ENT department, Newcastle Upon Tyne NHS Foundation Trust. She had been experiencing recurrent bilateral epistaxis since the age of 4 and first presented to our department at the age of 7. General examination was significant for cutaneous telangiectasia on her left cheek and both hands. Family history identified her maternal grandmother and maternal granduncle suffering from epistaxis but no family history of diagnosed HHT. Examination under anaesthesia of her nose identified multiple mucosal telangiectasias which were subsequently cauterised. Given her symptoms of recurrent epistaxis and the presence of telangiectasia (Curaçao score 2), she was referred for genetic testing which established a de-novo ENG mutation consistent with HHT type 1.
Treatment was initiated with prophylactic twice-daily applications of nasal petroleum jelly and daily Sterimar spray. Tranexamic acid was provided for “xxx” and her parents to administer as a rescue medication in the case of particularly severe episodes.