A 25-year-old patient presents with recurrent massive epistaxis requiring hospitalisation on three occasions. Examination shows multiple spider telangiectasias on the nasal mucosa and lips. His father had similar episodes. The underlying condition, inheritance pattern, and the vessel most commonly involved in epistaxis in this condition are:

• A Idiopathic — sporadic — Kiesselbach's plexus
• B Hereditary haemorrhagic telangiectasia (HHT/Osler-Weber-Rendu) — autosomal dominant — nasal telangiectasias fed by branches of the sphenopalatine artery ✓
• C Von Willebrand disease — autosomal recessive — ethmoidal arteries
• D Juvenile angiofibroma — sporadic — internal maxillary artery

Explanation

Hereditary haemorrhagic telangiectasia (HHT, Osler-Weber-Rendu syndrome) is an autosomal dominant vascular dysplasia (mutations in ENG or ACVRL1/ALK1) characterised by mucocutaneous telangiectasias and arteriovenous malformations. Epistaxis is the hallmark presenting feature, arising from nasal telangiectasias predominantly over the anterior nasal septum, fed by branches of the sphenopalatine artery (a branch of the internal maxillary artery). Recurrent severe epistaxis is the most common symptom. Management includes bevacizumab (anti-VEGF) nasal spray, laser photocoagulation, and in refractory cases, septal dermoplasty or internal maxillary artery embolisation.

Reference: Dhingra Diseases of Ear, Nose and Throat, 7th ed.

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Written and medically reviewed by the StethoPrep medical team.