Personalised stroke evaluation and management: tailoring individualised patient care for hereditary haemorrhagic telangiectasia

BMJ Case Rep. 2024 Apr 4;17(4):e257682. doi: 10.1136/bcr-2023-257682.

Abstract

SummaryHereditary haemorrhagic telangiectasia (HHT) has an estimated prevalence of 1 in 5000-8000 individuals globally with pulmonary arteriovenous malformations (PAVMs) affecting approximately 15%-50% of HHT patients. Ischaemic stroke is a known complication of PAVMs that affects ≤30% of patients with PAVMs. Studies have shown that patients with PAVMs have ischaemic stroke a decade earlier than routine stroke. The predominant mechanism of ischaemic stroke in HHT patients is paradoxical embolism due to PAVMs, but most HHT-related PAVMs are asymptomatic. Additionally, HHT is often underdiagnosed in patients and poses a challenge to physicians due to its rarity. We present a case of a patient with ischaemic stroke who was subsequently diagnosed with HHT and found to have a PAVM on further evaluation. This case highlights the importance of using an individualised patient-centred stroke evaluation and screening for PAVMs in patients who had a stroke with possible or suspected HHT and definite HHT.

Keywords: Genetics; Neurology; Stroke.

Publication types

  • Case Reports

MeSH terms

  • Arteriovenous Fistula*
  • Arteriovenous Malformations* / complications
  • Arteriovenous Malformations* / diagnosis
  • Brain Ischemia* / complications
  • Hemorrhage / complications
  • Humans
  • Ischemic Stroke* / complications
  • Pulmonary Artery / abnormalities*
  • Pulmonary Artery / diagnostic imaging
  • Pulmonary Veins* / abnormalities*
  • Stroke* / complications
  • Stroke* / etiology
  • Telangiectasia, Hereditary Hemorrhagic* / complications
  • Telangiectasia, Hereditary Hemorrhagic* / diagnosis
  • Telangiectasia, Hereditary Hemorrhagic* / therapy

Supplementary concepts

  • Pulmonary Arteriovenous Fistulas