Abstract TP578: Comparison of Demographic, Clinical, and Angiographic Characteristics Between Pediatric and Adult HHT Patients With Brain AVMs

Abstract

Introduction: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal-dominant disorder that affects 1 in 5,000 people, and is caused by heterozygous mutations in ENG, ACVRL1, and SMAD4. Diagnosis of HHT is either by genetic testing or by the presence of 3 of 4 Curacao clinical criteria: telangiectasia, recurrent nosebleeds, AVMs, or an affected first-degree relative. Approximately 5 to 23% of HHT patients are affected by brain AVMs. While characteristics of sporadic brain AVMs have been well-outlined in the literature, the angiographic features of brain AVMs in HHT patients are not as well understood on whether characteristics differ by age. The purpose of this study was to compare the clinical and angiographic characteristics in pediatric and adult HHT patients with brain AVM. Methods: Patients with a confirmed diagnosis of HHT and evidence of brain AVM on imaging (n=49) were queried from the UCSF Center for Cerebrovascular Research database. These patients were all enrolled in the multicenter Brain Vascular Malformation Consortium HHT Project at the UCSF HHT Center of Excellence. We assessed whether differences in demographic, clinical, and angiographic data existed between pediatric and adult patients; pediatric patients were defined as <18 years old at enrollment or imaging. Fisher's exact test was used to test patient-level comparisons, and logistic mixed-effect models were used to assess lesion-level characteristics. P-value<0.05 was considered statistically significant. Results: Adult HHT patients were significantly more likely to have telangiectasia, and were more likely to have pulmonary AVM and anemia, but not significantly so. Deep venous drainage was significantly more common in lesions from pediatric patients, as well as a trend for lesions with diffuse bAVM borders, venous stenosis, and venous ectasia. Larger sample sizes are needed to determine if these features are significantly different in bAVMs of pediatric and adult HHT patients.