Abstract 2421: Neurologic Phenotype Associated With Hereditary Haemorrhagic Telangiectasia In A Monocentric Cohort Of 154 Patients
Introduction Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that leads to the formation of vascular malformations in mucocutaneous tissues, visceral organs, and central nervous system. The most frequently reported neurologic injuries are cerebral vascular malformations (CVM), especially cerebral arteriovenous malformations (CAVM). Neurologic manifestations secondary to a right-to-left shunt through pulmonary arteriovenous malformations (PAVM) are less known.
Methods All patients with HHT collected between 1991 and 2010 in a prospective registry in a tertiary teaching hospital were included in this study. Neurologic data and brain imaging were assessed by 2 neurologists and 1 neuroradiologist.
Results In our cohort of 154 patients with HHT, 27 (17.5%) had a symptomatic neurologic injury, while symptomatic neurologic injury was present in 27 (29%) patients among the 93 patients with a PAVM. Prevalence of stroke or TIA was 14.2% in the overall group and 23.6% in the subgroup with PAVM. At 3 months, patients with stroke had good recovery (modified Rankin Score ≤ 2). Aetiological work-up for stroke or TIA revealed a right-to-left shunt through PAVM in 94.6% cases, including 13.6% of cases occurring during PAVM embolization. Ischemic events occurred in 4.5% of cases during cerebral AVM embolization. No cerebral ischemic recurrence occurred in patients with complete PAVM embolization. Four patients (0.03%) had cerebral abscesses. One patient had a symptomatic cerebral haemorrhage caused by a brain cavernoma. Various and asymptomatic CVMs were found on MRI in our study population: CAVM with small niduses (10 in 6 patients), capillary telangiectasias (8 in 6 patients), venous developpmental anomalies (7 in 4 patients), and cavernomas (3 patients).
Conclusion Neurologic symptoms related to HHT affect more than 1 patient in 6. Our results underline the high prevalence of stroke or TIA in HHT, especially in those with a PAVM. Cerebral vascular anomalies are common and atypical in HHT patients.
- © 2012 by American Heart Association, Inc.