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

Summary Hereditary 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.