Neurologic conditions in Hereditary Hemorrhagic Telangiectasia with pulmonary arteriovenous malformations: Database study

Abstract

RATIONALE/OBJECTIVE: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder affecting vascular maturation, with a prevalence of 1 in 3800 people in Alberta. Pulmonary arteriovenous malformations (PAVMs) affect 35–40% of individuals with HHT and can lead to recurrent embolic neurologic conditions, including stroke and transient ischemic attack (TIA), and the development of brain abscess due to intrapulmonary right-to-left shunt (RLS) in conjunction with intermittent bacteremia. METHODS A retrospective review of the Edmonton HHT Registry was conducted, where participants with possible or definite HHT were evaluated for PAVM-related neurologic conditions. RESULTS A total of 218 study subjects were included, of whom 80 had PAVMs. A trend was noted where those HHT subjects with PAVMs had a greater prevalence of stroke, TIA, migraines, seizures and brain abscess compared to those subjects with HHT who did not have PAVMs. However, the association between individual neurologic conditions and PAVMs was not statistically significant. After controlling for potential confounders of age and sex, HHT-PAVM subjects had 1.44 times the odds of associated serious neurologic condition, compared to those who did not have PAVMs (OR = 1.44, 0.74-2.78, p = 0.28). CONCLUSION Although our study did not show statistical significance, the strong positive trends suggest that PAVMs can give rise to neurologic conditions, in line with existing literature. A larger database may provide more definitive evidence. Future work should evaluate the effect of PAVM feeding artery size, architecture and shunt grade on neurologic conditions.