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BMJ Case Rep ; 17(4)2024 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-38575333

RESUMEN

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.


Asunto(s)
Fístula Arteriovenosa , Malformaciones Arteriovenosas , Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Arteria Pulmonar , Venas Pulmonares , Accidente Cerebrovascular , Telangiectasia Hemorrágica Hereditaria , Humanos , Malformaciones Arteriovenosas/complicaciones , Malformaciones Arteriovenosas/diagnóstico , Isquemia Encefálica/complicaciones , Hemorragia/complicaciones , Accidente Cerebrovascular Isquémico/complicaciones , Arteria Pulmonar/diagnóstico por imagen , Arteria Pulmonar/anomalías , Venas Pulmonares/anomalías , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/complicaciones , Telangiectasia Hemorrágica Hereditaria/complicaciones , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Telangiectasia Hemorrágica Hereditaria/terapia , Femenino , Persona de Mediana Edad
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