Diagnosis
The diagnosis of HHT can be made in some patients clinically by a healthcare provider with up to date knowledge and experience with HHT using the Curacao diagnostic criteria. Genetic testing is also used in the diagnosis of HHT. Approximately 85% of patients with HHT can be identified with HHT specific genetic testing.
Curacao Criteria
- History of chronic and persistent epistaxis (nosebleeds)
- Presence of multiple mucocutaneous telangiectasias (red spots)
- Presence of organ arteriovenous malformations (AVMs)
- Family history of HHT in a first degree relative (parents, siblings or children)
The presence of 3 or more criteria makes a definitive diagnosis of HHT while ≤1 criteria makes HHT unlikely.