113 - Pulmonary Arteriovenous Malformation Screening in Hereditary Hemorrhagic Telangiectasia – When Can We Stop?

Monday, March 31, 2025

12:10 PM – 1:10 PM CT

Location: Music City Center, Expo Poster Area

Poster Presenter(s)

Baylee Wiechecki (she/her/hers)

Medical Student
Oregon Health and Science University, United States

Author/Co-author(s)

MC

Mark Chesnutt, MD

Professor of Medicine, Division of Pulmonary and Critical Care Medicine
Oregon Health & Science University, United States
Claire Kaufman, MD

Associate Professor
OHSU, United States

Purpose: Patients with hereditary hemorrhagic telangiectasia (HHT) are predisposed to pulmonary arteriovenous malformations (PAVMs). These patients undergo routine screening for PAVMs with treatment of choice being catheter-directed embolization. Consensus conference guidelines and most experts recommend lifelong screening for PAVMs every 5 to 10 years in patients with HHT and do not comment on whether screening can be stopped in patients who have had no PAVMs by a certain age. The purpose of our study was to determine if there is an optimal age for termination of screening for PAVMs in patients with HHT who have never been diagnosed with a PAVM.

Materials and Methods: A retrospective, single-center medical records review was performed of 120 patients with HHT diagnosed by Curaçao clinical criteria (3 or 4 criteria) or genetic testing evaluated at an HHT Center of Excellence from January to December 2023. Thirty patients were excluded due to insufficient historical data. The analysis included 51 patients diagnosed with PAVM by either transthoracic contrast echo (TTCE), CT, or pulmonary angiography and 39 patients without suggestion of PAVMs on either TTCE or CT. Kaplan-Meier survival analysis was used to estimate the median age at PAVM diagnosis. ROC analysis was performed to evaluate an optimal cutoff age for PAVM screening, with sensitivity and specificity calculated at each cutoff.

Results: Ninety patients (57 female, 63.3%) were included (mean age, 53.9 +/- 18.1; range 15-90 years) and divided into two groups, 51 patients (56.7%) with PAVMs and 39 patients (43.3%) without PAVMs. Forty-five patients (50%) had undergone genetic testing: 22 (24.4%) were positive for ENG, 16 (17.8%) for ACVRL1, 5 (5.6%) for SMAD4, and 2 (2.2%) with negative genetic testing. Kaplan-Meier analysis estimated a median age of 51 years (95% CI: 43.9-58.1) for PAVM diagnosis. ROC analysis yielded an AUC of 0.787, with an optimal age cutoff of 52 years based on Youden’s index (sensitivity 0.86, specificity 0.59). At age 66.5 years, sensitivity was 1.0.

Conclusion: Our analysis suggests screening of our population of HHT patients without PAVMs may safely be stopped after age 66.5 years when sensitivity is 1.0. This study is limited by its small sample size, and more extensive studies are needed to inform clinical practices and PAVM screening guidelines for HHT patients.