High importance
Aug 20, 2026
This study reports a pediatric case where Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia (HHT) syndrome was diagnosed through the manifestation of anemia associated with pulmonary arteriovenous malformations (PAVM).
A detailed clinical assessment of the patient was performed, alongside genetic testing for HHT-related mutations, including ALK1, endoglin, and SMAD4. Imaging studies were conducted to evaluate for PAVM and associated vascular malformations.
The patient was found to have significant anemia attributed to multiple PAVMs as part of the HHT syndrome. Genetic testing confirmed relevant mutations, providing a definitive diagnosis and guiding subsequent management with targeted therapies such as bevacizumab and pomalidomide to manage vascular malformations and anemia.
The case is singular and may not generalize across the diverse presentations of HHT. Additionally, long-term outcomes of the therapies used are still under investigation and not yet established in larger cohorts.
This case highlights the critical intersection of juvenile polyposis and HHT, underscoring the importance of recognizing PAVM as a potential complication in pediatric patients presenting with unexplained anemia. It advocates for genetic screening in such cases to inform treatment and improve patient management.