Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multi-organ condition occurring with a 1 in 3800 prevalence in Alberta. This genetic disorder leads to vascular malformations in different organs including the lungs and brain, commonly affecting pulmonary vasculature leading to pulmonary arteriovenous malformations (PAVMs). PAVMs lead to right-to-left shunts, which may be associated with neurologic complications. We aimed to evaluate and summarize the reported neurologic manifestations of individuals with HHT with pre-existing PAVMs.

We performed a qualitative systematic review to determine available literature on neurological complications among patients with PAVMs and HHT. Published studies included observational studies, case studies, prospective studies, and cohort studies including search terms HHT, PAVMs, and various neurologic complications using MEDLINE and EMBASE.

A total of 449 manuscripts were extracted including some duplicates of titles, abstracts, and text which were screened. Following this, 23 publications were identified for inclusion in the analysis. Most were case reports (n = 15). PAVMs were addressed in all these articles in association with various neurological conditions ranging from cerebral abscess, ischemic stroke, hemorrhagic stroke, embolic stroke, and migraines.

Although HHT patients with PAVMs are at risk for a variety of neurological complications compared to those without PAVMs, the quality and volume of evidence characterizing this association is low. Individuals with PAVMs have a high prevalence of neurological manifestations such as cerebral abscess, transient ischemic attack, cerebral embolism, hemorrhage, and stroke. Mitigating stroke risk by implementing proper standardized screening techniques for PAVMs is invaluable in preventing increased mortality.

Hereditary 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.

Population-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.

The 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.

This 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.

To determine whether patients with hereditary haemorrhagic telangiectasia were being screened according to international guidelines, and to review recent evidence in order to provide up-to-date guidelines for the initial systemic management of hereditary haemorrhagic telangiectasia.

A retrospective case note analysis was conducted, assessing patients in terms of screening for: genetics, cerebral arteriovenous malformations, pulmonary and hepatic arteriovenous malformations, and gastrointestinal telangiectasia. Databases searched included Medline, the Cumulative Index to Nursing and Allied Health Literature, and Embase.

Screening investigations were most frequently performed for hepatic arteriovenous malformations and least frequently for genetics. Recent data suggest avoiding routine genetic and cerebral arteriovenous malformation screening because of treatment morbidities; performing high-resolution chest computed tomography for pulmonary arteriovenous malformation screening; using capsule endoscopy (if possible) to reduce complications from upper gastrointestinal endoscopy; and omitting routine liver enzyme testing in favour of Doppler ultrasound.

Opportunities for systemic arteriovenous malformation screening are frequently overlooked. This review highlights the need for screening and considers the form in which it should be undertaken.