iatroX Rounds #47
The clues
- 1
A 42-year-old man presents to the Emergency Department following another episode of persistent nosebleeds.
- 2
He mentions he has always been prone to these since childhood, but they are becoming more frequent and difficult to stop.
- 3
His father died of a sudden stroke in his forties and his sister has recently been diagnosed with a significant iron-deficiency anaemia.
- 4
On examination, several small, ruby-red, blanching lesions are noted on his lips, tongue, and the pads of his fingers.
- 5
Chest X-ray reveals a well-circumscribed, round opacity in the left lower lobe, and blood tests show a microcytic, hypochromic anaemia.
- 6
Contrast echocardiography (bubble study) demonstrates a significant right-to-left shunt appearing after several cardiac cycles, suggesting a pulmonary arteriovenous malformation.
Hereditary haemorrhagic telangiectasia is an autosomal dominant disorder that leads to abnormal blood vessel formation, specifically mucocutaneous telangiectasias and visceral arteriovenous malformations.
- Recurrent epistaxis
- Mucocutaneous telangiectasia on the lips, oral mucosa and fingers
- Visceral arteriovenous malformations in the lungs, liver, and brain
- Iron-deficiency anaemia due to occult gastrointestinal bleeding
for education and entertainment. not medical advice.