Ionela Iacobas, Adrienne M. Hammill
Texas Children’s Hospital and Baylor College of Medicine. Cincinnati Children’s Hospital Medical Center.
United States
Current Opinion in Pediatrics
Curr Opin Pediatr 2024;
DOI: 10.1097/MOP.0000000000001398
Abstract
Purpose of review: Hereditary hemorrhagic telangiectasia (HHT) diagnostic and management approach for pediatrics underwent significant advances over the last couple of years.
Recent findings: In 2020, new guidelines for HHT were published that included a pediatric section thus attracting special focus into the childhood presentation.
Summary: Curacao criteria are specific, but not sensitive enough in children. Genetic testing is encouraged for all family members even if asymptomatic. Standardized scoring for epistaxis is strongly encouraged, as it allows monitoring and can stratify therapeutic approaches. Early screening for pulmonary and brain visceral arteriovenous malformations (AVMs) in pediatric patients with confirmed genetic alterations of HHT should be instituted. Graded trans-esophageal echocardiogram with agitated saline contrast can be used as screening method for pulmonary AVMs. As pulmonary AVMs can develop throughout lifetime, guidelines recommend repeated screening even in asymptomatic patients at least every 5 years. Signs of stroke in childhood are more subtle than in adults. Cerebral imaging in early childhood can identify brain AVMs that may benefit from early intervention. Embolization of high-risk pulmonary and cerebral AVMs should be performed at specialized centers even at pediatric age. One or two classic HHT telangiectasia can be considered diagnostic in children. Antibiotic prophylaxis with dental procedures continues to be recommended.
Category
Pulmonary Arteriovenous Malformations
Review Articles Concerning Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: No