Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population
Our findings confirm the variable expressivity of HHT, even among first-degree relatives sharing the same pathogenic variant. No consistent overlap was observed between parent and child phenotypes, reinforcing the need for individualized pediatric screening and follow-up. Early genetic testing remains essential to prevent complications and guide appropriate management.
Authors
- Eleonora Gaetani (ORCID: https://orcid.org/0000-0002-7808-1491)
- Giulio Cesare Passàli (ORCID: https://orcid.org/0000-0002-8176-0962)
- Francesco Proli (ORCID: https://orcid.org/0000-0003-2426-3342)
- Emanuela Lucci‐Cordisco (ORCID: https://orcid.org/0000-0002-6279-7604)
- Giuseppe Zampino (ORCID: https://orcid.org/0000-0002-2661-4831)
- Andrea Contegiacomo (ORCID: https://orcid.org/0000-0003-1489-6314)
- Giovanna Quatrale (ORCID: https://orcid.org/0000-0001-6729-5630)
- Roberta Onesimo (ORCID: https://orcid.org/0000-0003-3128-6657)
- Valentina Giorgio (ORCID: https://orcid.org/0000-0002-7448-8710)
- Giuseppe Stella (ORCID: https://orcid.org/0000-0003-2179-5992)
- Chiara Leoni (ORCID: https://orcid.org/0000-0002-4089-637X)
- Elena Sonnini
- Antonio Gasbarrini (ORCID: https://orcid.org/0000-0003-4863-6924)
- Chiara Di Foggia
- Gaia Margiotta
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Agostino Gemelli University Polyclinic (IT)
- Advanced Radiation Therapy (United States) (US)
- Azienda Ospedaliera Sant'Andrea (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-09-24
- DOI
- https://doi.org/10.1186/s13052-025-02087-4
- Primary Topic
- Vascular Anomalies and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00