Prevalence of and Factors Associated with Arterial Aneurysms in Patients with Hereditary Hemorrhagic Telangiectasia: 17-Year Retrospective Series of 418 Patients
What is the prevalence of and characteristics associated with the presence of aneurysms in patients with hereditary hemorrhagic telangiectasia (HHT)?
Take away point
Compared to the general population, the prevalence of intracranial and visceral arterial aneurysms is higher in this specific cohort with HHT. Older age, unrelated AVMs and ACVRL1 mutation were associated with having an aneurysm.
Prevalence of and Factors Associated with Arterial Aneurysms in Patients with Hereditary Hemorrhagic Telangiectasia: 17-Year Retrospective Series of 418 patients (2021). Ring, N., et al. Journal of Vascular and Interventional Radiology, Volume 32: 1661-1669.
Click here for abstract
Retrospective, observational and descriptive study.
Single center; HHT Center of Excellence
The study was performed at a single center, which is established as a center of excellence. A total of 418 patients with HHT were identified via chart review. The presence and characteristics (eg size, number and location) were collected. Regression modeling was performed to evaluate the following potential associations, which are known to be associated with an increased risk of aneurysms: older age, male sex, smoking, alcohol, hypertension, hyperlipidemia, genetic mutations, the presence of arteriovenous malformations unrelated to aneurysms and HHT-related genetic mutations.
Out of 418 patients, 43 (10.3%) patients had at least one aneurysm, with a total of 73 aneurysms. Eighteen (4.3%) had intracranial aneurysms and twenty patients had visceral aneurysms (4.8%), which included splenic, renal, hepatic and pancreatic aneurysms. Less than two percent were pulmonary aneurysms unrelated to AVM’s, thoracic aortic aneurysm and coronary artery aneurysms. Please see figure one for a case with multiple arterial aneurysms. Of the Curaçao criteria, only the presence of unrelated aneurysms was statistically significant. The mean Curaçao score was significantly higher in patients with aneurysms. Patients with an ACVRL1 mutation had the highest rate of arterial aneurysms (20.0%). Results from the regression analysis demonstrated presence of the ACVRL1 mutation, unrelated AVMs and older age significantly associated with having at least one aneurysm.
Meta-analyses describe the prevalence of intracranial aneurysms as 1.8-3.2% in patients without comorbidities, compared to 4.3% of patients in the present study. Prevalence of visceral artery aneurysms in the general population is 0.1-2.0%, compared to 4.8% of patients in the present study.
Marissa Stumbras, MD
Interventional Radiology Resident, PGY3
Oregon Health & Science University