Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations

Abstract

To investigate the prevalence and predictors of hereditary hemorrhagic telangiectasia (HHT) and capillary-malformation arteriovenous malformation (CM-AVM) syndrome among children with no prior personal or family history of these diseases who presented with an arteriovenous shunt lesion. A retrospective chart review was completed on patients aged 0 through 21 years with AV shunt lesions evaluated at our Cerebrovascular Center. Diagnosis of definite or suspected HHT or CM-AVM was based on clinical features and genetic testing. Associations between final diagnosis and type and number of lesions, epistaxis, telangiectasias, CM, and pulmonary AVMs were assessed. Eighty-nine patients were included. Thirteen (14.6%) had definite HHT, 11 (12.4%) suspected HHT, and 4 (4.5%) definite CM-AVM. Having ≥ 2 episodes of epistaxis/year and ≥ 2 sites with telangiectasias were each associated with definite HHT (p<0.001). Having ≥ 2 CM was associated with definite CM-AVM (p<0.001). Pulmonary AVM was associated with increased odds of having definite HHT (OR=6.3, 95% CI: 1.2-33.4). Multiple lesions (OR=24.5, 95% CI: 4.5-134.8) and AVFs (OR=6.2, 95% CI: 1.9-20.3) each increased the likelihood of having definite HHT or CM-AVM. Genetic testing was positive in 31% of patients tested. We recommend that children with neurovascular shunt lesions be offered genetic testing and undergo further evaluation for HHT and CM-AVM. Awareness and early diagnosis of these conditions is a critical step towards improving long-term outcomes and preventing disease-associated complications.