Links Between Strokes and Hereditary Hemorrhagic Telangiectasia: A Population-Based Study

Abstract

BackgroundHereditary hemorrhagic telangiectasia (HHT) is a disease of abnormal vasculature where patients are predisposed to strokes of multiple etiologies. We assessed yearly stroke incidence among Albertans with HHT and compared with the general population. Given the tendency for stroke in HHT patients, we expected HHT patients to have higher stroke incidence, in particular at younger ages.MethodsPopulation-based administrative health data on inpatient and ambulatory admissions were extracted over a 16-year period using International Classification of Diseases (ICD)-9 and ICD-10, Canada codes. We analyzed overall occurrence of strokes in Alberta by age, gender, stroke subtype, and diagnosis of HHT.ResultsThe age-standardized incidence rate of stroke in HHT was 450 per 100,000 compared with 260 per 100,000 in the general population with a rate ratio of 1.73 (95% confidence interval (CI) [1.046-2.842]). This study found a higher HHT prevalence in Alberta (1 in 3800) compared to the world average of 1 in 5000. Women were also more likely to be diagnosed with HHT, with a 3.25:1 female gender preponderance in the yearly incidence.InterpretationThis study not only shows that HHT patients are at higher risk of having a stroke but also quantifies that risk using an age-adjusted metric in Alberta. This province has a higher than expected disease burden of HHT, with the majority of cases affecting women. Our study found that acute ischemic strokes and transient ischemic attacks are far more common than hemorrhage in HHT. As HHT is a rare, multi-system, chronic disease, these patients should be referred to an HHT Centre of Excellence.

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

“…4 Institute for Human Genetics, University of California, San Francisco, CA, USA. 5 Department of Epidemiology and Biostatistics, University of California, San Francisco, CA, USA. 6 Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA.…”

“…Hereditary hemorrhagic telangiectasia (HHT) is a rare dominant genetic disorder with an estimated prevalence of approximately 1 in 5000-10,000 [1][2][3][4][5], affecting children and adults, often involving multiple organs. HHT is characterized by the presence of vascular malformations (VMs), including arteriovenous malformations (AVMs) of the lung, liver, brain, spinal cord and smaller mucosal lesions (telangiectasia) of the nose, mouth and gastro-intestinal (GI) tract [6,7].…”

Neurologic Complications in Hereditary Hemorrhagic Telangiectasia with Pulmonary Arteriovenous Malformations: A Systematic Review

“…Hereditary hemorrhagic telangiectasia (HHT), previously known as Rendu-Osler-Weber disease, is an autosomal dominant genetic disorder with a prevalence of 1:3800 in the province of Alberta. 1,2,3 HHT is characterized by vascular malformations which can affect different organs, including the lungs and brain leading to what is known as pulmonary arteriovenous malformations (PAVMs) and cerebral arteriovenous malformations (CAVMS), respectively. Both can lead to stroke.…”

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) Part I. Pathophysiology, clinical symptoms and recommend screening for vascular malformations

“…Podrobnosti uvádí Nevoralová (13). Pokud se prokáže CAVM, která by mohla ohrozit svého nositele, pak je na zvážení neurochirurgická resekce, stereotaktické radiochirurgické ošetření, embolizace nebo kombinace těchto postupů (14,15).…”