High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia

Eur J Neurol. 2024 Feb;31(2):e16128. doi: 10.1111/ene.16128. Epub 2023 Nov 13.


Background and purpose: Hereditary haemorrhagic telangiectasia (HHT) is a genetic disease with fragile blood vessels and vascular malformations, potentially causing neurological manifestations, including stroke and cerebral abscesses. The study aimed to investigate neurological manifestations in the Danish HHT database, focusing on pulmonary arteriovenous malformations (PAVMs) as a risk factor for cerebral events.

Methods: Retrospective analysis of the Danish HHT database was conducted, cross-referencing neurological outcomes with the Danish Apoplexy Register for accuracy. Patients were stratified by HHT type. Primary outcomes included ischaemic stroke, transient ischaemic attack and cerebral haemorrhage. Secondary outcomes comprised age, age at HHT diagnosis, age at cerebral ischaemic event, and PAVM and cerebral arteriovenous malformation status.

Results: Six hundred and sixty-four HHT patients were included. PAVM was diagnosed in 54% of patients, with higher prevalence in HHT type 1 (70%) compared to HHT type 2 (34%) and juvenile polyposis HHT (66%). Ischaemic stroke or transient ischaemic attack occurred in 12.5%, with a higher risk associated with macroscopic PAVM. Logistic regression showed a nearly 10 times increased risk of ischaemic stroke with macroscopic PAVM. Cerebral abscesses occurred in 3.2% of patients, all with macroscopic PAVM. Incomplete PAVM closure increased cerebral abscess risk.

Conclusion: This study provides valuable insights into the prevalence of neurological manifestations and vascular events in HHT patients. The presence of PAVM was associated with an increased risk of ischaemic stroke, highlighting the importance of early screening and intervention. The findings emphasize the need for comprehensive management strategies targeting both vascular and neurological complications in HHT patients, especially regarding secondary stroke prevention.

Keywords: cerebral abscess; hereditary haemorrhagic telangiectasia; ischaemic cerebral stroke; pulmonary arteriovenous malformations.

MeSH terms

  • Brain Abscess* / complications
  • Brain Abscess* / epidemiology
  • Brain Ischemia* / complications
  • Brain Ischemia* / epidemiology
  • Humans
  • Ischemic Attack, Transient* / complications
  • Ischemic Attack, Transient* / epidemiology
  • Ischemic Stroke* / complications
  • Retrospective Studies
  • Stroke* / complications
  • Stroke* / epidemiology
  • Telangiectasia, Hereditary Hemorrhagic* / complications
  • Telangiectasia, Hereditary Hemorrhagic* / diagnosis
  • Telangiectasia, Hereditary Hemorrhagic* / epidemiology