Hereditary Haemorrhagic Telangiectasia

Question 1

Who is Hereditary haemorrhagic telangiectasia (HHT) inherited?

Answer 1

Autosomal dominant

Question 2

What are the 4 main diagnostic criteria?

Answer 2

1. Epistaxis : spontaneous, recurrent nosebleeds
2. Telangiectases: multiple at characteristic sites (lips, oral cavity, fingers, nose)
3. Visceral lesions: for example gastrointestinal telangiectasia (with or without bleeding), pulmonary arteriovenous malformations (AVM), hepatic AVM, cerebral AVM, spinal AVM
4. Family history: a first-degree relative with HHT

Question 3

How do you diagnose HHT from the criteria?

Answer 3

If they have 2 of the 4 then they have possible HHT.

If they have 3 of the 4 they have a definite diagnosis of HHT.

Question 4

What are the features of HHT?

Answer 4

• Multiple telangiectasia over the skin and mucous membranes.
• Frequent nose bleeds