Try it
ENT · Nose: hereditary haemorrhagic telangiectasia
Sample itemA man has recurrent spontaneous nosebleeds, small red lesions on the lips and tongue, and a family history of nosebleeds. What is the inheritance pattern?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Autosomal dominant
Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu) is autosomal dominant, involving ENG and ACVRL1 genes. Telangiectasia in the nose, mouth and gut cause bleeding, and pulmonary or cerebral arteriovenous malformations may occur.
Option by option
A. X-linked recessive
It is not X-linked.
B. Sporadic only
It is a hereditary disorder, not sporadic.
C. Autosomal dominant (correct)
Correct. HHT is autosomal dominant.
D. Autosomal recessive
Recessive inheritance is not typical.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
More ENT questions
- AudiologyIn a tuning fork test, Rinne is negative (bone conduction louder than air conduction) in…
- EarWhich type of chronic suppurative otitis media is considered 'unsafe'?
- LarynxIn singers, vocal nodules typically occur at:
- Vestibular disordersA patient has recurrent attacks of vertigo lasting hours, with fluctuating low-frequency…