The Role of Hereditary Hemorrhagic Telangiectasia in Neurologic Practice

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a disorder of TGF-beta signaling inherited in an autosomal dominant pattern, with symptoms emerging over several decades of life. At full expression, affected persons may experience epistaxis, mucocutaneous telangiectasia, and solidorgan vascular malformations-most importantly arteriovenous malformation (AVM)-in the lung, brain, spinal cord, or liver. Unfortunately, in many families with HHT, the disease remains undiagnosed until symptomatic CNS presentation, perhaps from spinal abscess secondary to pulmonary AVM or with intracranial hemorrhage from a ruptured brain AVM. Patients and families describe, with alarming frequency, extensive epistaxis history, which had either failed to be recognized by a medical provider as a significant outlier or which seemed trivial to the historian in comparison with another family member's bleeding. Improved disease literacy is a vital component to improving outcomes in HHT.In this issue of Neurology ® , White et al. 1 publish a study that identifies HHT as a causative disorder for brain abscess and stroke throughout the lifespan. The study draws on administrative data from 2 publicly available resources and uses International Classification of Disease diagnosis codes (ICD-9 and ICD-10) to identify HHT diagnosis and key neurologic complications. In a case-control study, the authors detail diagnostic information on 5,796 patients with HHT and 57,960 controls, finding a strong association between cerebral abscess and HHT diagnosis in adults (rate ratio 35.6, 95% CI 15.4-82.5) without demonstrating a similar finding in children. All subtypes of strokes were identified at higher rates in the HHT group, with the strongest effect seen in the childhood cohort.