Beyond epistaxis: cascade screening and presymptomatic treatment of hereditary hemorrhagic telangiectasia

This case emphasizes the importance of prompt recognition of hereditary hemorrhagic telangiectasia in children presenting with recurrent epistaxis and highlights the need for thorough family history. Pediatricians play a crucial role in early diagnosis and referral for genetic testing with subsequent surveillance imaging. Early identification may possibly reduce the risk of unfavorable outcomes such as intracranial hemorrhage. This case emphasizes the need for heightened awareness of hereditary hemorrhagic telangiectasia in pediatric practice and supports the value of integrating genetic cascade testing and organ-specific screening in at-risk children, even before symptoms appear.