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.