Hereditary haemorrhagic telangiectasias (Osler Weber Rendu)

Question 1

What is the classic clinical presentation of HHT?

autosomal dominant multi-organ vascular dysplasia, characterised by multiple AVMs

Answer 1

The diagnosis is a clinical diagnosis (Curacao criteria) based on the presence of 3 out of 4 of the following:

• recurrent spontaneous epistaxis
• multiple mucocutaneous telangiectasias. characteristic sites include: oral cavity, lips, fingers and nose
• visceral AVMs
• first degree relative with HHT

Question 2

What are the CNS manifestations of HHT?

Answer 2

1. cerebral AVMs, spinal AVMs or cerebral aneurysms
2. complications: headache, seizures, paraparesis, haemorrhage
3. one-third of cerebral complications in HHT are due to cerebral AVMs or aneurysms, and two-thirds are due to paradoxical emboli from pulmonary AVMs

Question 3

What are the pulmonary manifestations of HHT?

Answer 3

1. pulmonary arterio-venous malformations (AVMs)
2. Complications:
   - pulmonary haemorrhage, - haemoptysis (less common)
   - complications of shunting (more common): paradoxical emboli (due to right to left shunt, e.g. stroke), septic emboli (e.g. cerebral abscess), hypoxaemia, high-output cardiac failure

Question 4

What are the abdominal manifestations of HHT?

Answer 4

LIVER/BILIARY TREE

-typically arteriovenous or portovenous shunts -> portal hypertension

• shunting of the blood away from the peribiliary plexus lead to biliary necrosis and bile leak
• complications: high-output cardiac failure, portal hypertension, mesenteric angina from steal phenomenon

GIT: AVMs or angiodysplasia in the stomach, small bowel or large bowel. -> complications: recurrent GI bleeding