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Hereditary hemorrhagic telangiectasia.

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

  1. History of chronic and persistent epistaxis (nosebleeds)
  2. Presence of multiple mucocutaneous telangiectasias (red spots)
  3. Presence of organ arteriovenous malformations (AVMs)
  4. 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.