Nasal Endoscopy in the Clinical Diagnosis of Hereditary Hemorrhagic Telangiectasia.

Autor: Matti E; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Lizzio R; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. Electronic address: robertalizzio@hotmail.com., Ugolini S; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Otorhinolaryngology, Università degli Studi di Pavia, Pavia, Italy., Maiorano E; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Otorhinolaryngology, Università degli Studi di Pavia, Pavia, Italy., Zaccari D; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Otorhinolaryngology, Università degli Studi di Pavia, Pavia, Italy., De Silvestri A; Clinical Epidemiology and Biometry Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., De Sando E; Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Marseglia GL; Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Pediatrics, Università degli Studi di Pavia, Pavia, Italy., Benazzo M; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Otorhinolaryngology, Università degli Studi di Pavia, Pavia, Italy., Olivieri C; Molecular Medicine Department, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy., Pagella F; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Otorhinolaryngology, Università degli Studi di Pavia, Pavia, Italy., Spinozzi G; Department of Otorhinolaryngology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Jazyk: angličtina
Zdroj: The Journal of pediatrics [J Pediatr] 2021 Nov; Vol. 238, pp. 74-79.e2. Date of Electronic Publication: 2021 Jul 13.
DOI: 10.1016/j.jpeds.2021.07.007
Abstrakt: Objectives: 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.
Study Design: From May 2016 to December 2019, a cross-sectional observational study was conducted, recruiting children aged 2-18 years with a parent affected by HHT. To identify the Curaçao criteria, all children underwent collection of clinical history, mucocutaneous examination, and nasal endoscopy. The clinical data were then compared with the genetic data acquired subsequently.
Results: Seventy children (median age, 10.8 years) were included. All 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 % (95 % CI, 16%-43 %) to 85 % (95 % CI, 71%-94 %; P < .0001) when the nasal telangiectases were included.
Conclusions: The magnified and complete endoscopic view of the nasal cavities proved 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.
(Copyright © 2021 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: