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Hereditary Haemorrhagic Telangiectasia — RACP Paediatrics MCQ

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HardHaematology & OncologyHereditary Haemorrhagic TelangiectasiaRACP Paediatrics

A 5-year-old boy presents with recurrent epistaxis. On examination, multiple telangiectasia are noted on his lips, tongue, and nasal mucosa. His mother has similar lesions and recurrent nosebleeds. What is the diagnosis?

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Correct answer: E — Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

HHT is autosomal dominant causing vascular malformations (telangiectasia on mucous membranes and AVMs in lungs, brain, liver). Recurrent epistaxis is the most common presenting feature. Pulmonary AVMs can cause paradoxical emboli. Screening with contrast echocardiography and brain MRI is recommended.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Vascular Malformations