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HHT — MFDS Part 1 MCQ

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ModerateHuman DiseaseHHTMFDS Part 1

A 32-year-old patient with otherwise unexplained iron-deficiency anaemia reports spontaneous recurrent epistaxis since adolescence. Which additional clinical finding would most strongly support a diagnosis of hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)?

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Correct answer: B — Multiple telangiectases on the lips, oral mucosa and fingertip pads

The correct answer is B. Hereditary haemorrhagic telangiectasia is an inherited vascular disorder characterised clinically by spontaneous recurrent epistaxis, multiple mucocutaneous telangiectases at characteristic sites—including the lips, oral cavity, fingers and nose—and sometimes visceral arteriovenous malformations. Recurrent bleeding may cause iron-deficiency anaemia. Gingival enlargement and macroglossia are not characteristic of HHT. Bilateral parotid enlargement with xerostomia suggests salivary gland disease such as Sjögren syndrome. Non-scrapable white plaques indicate a keratotic disorder rather than a vascular lesion. Melanotic labial pigmentation associated with gastrointestinal polyposis is characteristic of Peutz-Jeghers syndrome.

Reference: NHS England, National Genomic Test Directory: Rare and Inherited Disease Eligibility Criteria, R186 Hereditary haemorrhagic telangiectasia, version 7.1, January 2025. https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-eligibility-criteria-V7.1-2.pdf