To evaluate the role of nasal endoscopy for early clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children and to investigate the characteristics of epistaxis and mucocutaneous telangiectases in our pediatric population.

From May 2016 to December 2019, a cross-sectional observational study was conducted, recruiting children between 2 and 18 years with a parent affected by HHT. In order to identify the Curaçao criteria, all underwent collection of clinical history, mucocutaneous examination and nasal endoscopy. The clinical data were then compared with the genetic data acquired subsequently.

Seventy children, with a median age 10.8 years, were included. They underwent nasal endoscopy without complications. Forty-six children were positive by genetic testing; of these, 26% had skin and oral telangiectases and 91% had nasal telangiectases. The diagnostic sensitivity of the Curaçao criteria increased from 28% (CI95%: 16–43) to 85% (CI95%: 71–94; P < .0001) when the nasal telangiectases were included.

The magnified and complete endoscopic view of the nasal cavities proved to be useful in increasing the diagnostic sensitivity of the Curaçao criteria. Such an examination turned out to be feasible and safe. For this reason, we believe that nasal endoscopy should be included in the diagnostic assessment of pediatric patients with suspected HHT.