Skip to main content
Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Targeting under-diagnosis in hereditary hemorrhagic telangiectasia: a model approach for rare diseases?

Figure 1

Clinical manifestations of HHT, including pulmonary arteriovenous malformations (left) and mucocutaneous telangiectases (right). According to the Curaçao criteria, a confirmed clinical diagnosis of HHT requires 3 or more of epistaxis, mucocutaneous telangiectasia, visceral AVMs, and a positive family history of HHT. Recurrent epistaxis is the most common symptom of HHT and is present in more than 90 % of adults ≥50 years of age. HHT may also be diagnosed genetically based on known disease-causing mutations.

Back to article page