3:00 PM Abstract No. 91 Association of hereditary hemorrhagic telangiectasia with cerebral and extracerebral arterial aneurysms: experience from a single center of hereditary hemorrhagic telangiectasia excellence

Abstract

Arterial aneurysms are increasingly recognized as part of the hereditary hemorrhagic telangiectasia (HHT) phenotype, however, literature on this association is limited. This retrospective study describes the incidence of known intra- and extracranial aneurysms in a large cohort of patients with HHT or HHT-associated genetic mutation and identifies factors predictive of aneurysm presence. Institutional review board approval was obtained. In our institution’s HHT database, patients with either definite HHT by clinical criteria (Curacao score of 3 or 4) and/or HHT-associated mutation (ENG, ACVRL1, SMAD4, or GDF2) were identified. 401 patients were included (mean age, 47 years; range, 3-99 years); 244 (61%) were female. 365 had a Curacao score of 3 (n = 201) or 4 (n = 164). Electronic medical records were reviewed for imaging/clinical characteristics of arterial aneurysms. Statistical analysis was performed using IBM SPSS v25. 49/401 patients (12.2%) had at least one aneurysm. 17 (4.2%) were intracranial, of which 10 were treated. 21 (5.2%) had a visceral aneurysm, including splenic (n = 14, 3 treated), renal (n = 3), hepatic (n = 2), and pancreatic (n = 2). 10 (2.5%) had a cardiac/aortic aneurysm, and 7 (1.7%) had a pulmonary aneurysm. 16 patients (4.0%) had more than one aneurysm; 80 aneurysms total were documented in this cohort. 17 patients with aneurysm had an HHT-associated mutation, distributed as follows: ACVRL1 (n = 10), ENG (n = 5), GDF2 (n = 1), and SMAD4 (n = 1). Binomial logistic regression was performed to ascertain the effects of Curacao score, age, gender and genetic mutation on the likelihood that participants have at least one arterial aneurysm. Of the seven predictor variables, Curacao score, age, ACVRL1 and GDF2 were statistically significant (P = 0.007, 0.002, 0.007, and 0.014, respectively). Furthermore, ACVRL1 mutation was associated with a higher number of aneurysms in any one individual (P = 0.017) In this cohort of patients with HHT and/or HHT-associated mutation, higher Curacao score, age, ACVRL1, and GDF2 are associated with presence of at least one aneurysm in patients with HHT. ACVRL1 mutation is associated with a higher number of aneurysms in any one individual.