Neurological manifestations of hereditary hemorrhagic telangiectasia (HHT)

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is an illness that has fascinated clinicians from many specialties as well as genetic experts. Its management is both complex and intriguing as it involves a diverse spectrum of vascular malformations in multiple organ systems. Though the end-organ clinical manifestations are related to telangiectasia and arteriovenous malformations (AVM) and their hemorrhagic sequelae, several management challenges exist separate from those associated with these abnormalities on their own. The neurological manifestations of HHT involve cerebral and spinal arteriovenous malformations, transient ischemic attacks (TIAs), strokes, and cerebral abscesses due to pulmonary AVMs and right-to-left shunting. Management of these patients include screening of high-risk individuals, treatment of asymptomatic/incidental lesions, peripartum care, and the role of prothrombotic therapies. The mode and frequency of screening as well as management and treatment of these vascular malformations remain a subject of debate, including the treatment of unruptured cerebral AVMs. Pulmonary and cerebral AVMs can have a positive cost-benefit and risk-benefit when diagnosed early by non-invasive screening tests like trans-thoracic echocardiography (TTE) and magnetic resonance imaging (MRI) or magnetic resonance angiogram (MRA).