Hereditary haemorrhagic telangiectasia (HHT)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hereditary haemorrhagic telangiectasia (HHT). HHT type 1: ENG gene mutations, HHT type 2: ACVRL1 gene mutations. Fully referenced neurology checklist.
Genetic types
- HHT type 1: ENG gene mutations
- HHT type 2: ACVRL1 gene mutations
- HHT overlap: SMAD4 gene mutations
Curacao diagnostic criteria
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Arteriovenous malformations (AVMs): epidemiology
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Arteriovenous malformations (AVMs): sites
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Telangiectasias (dilated blood vessels): locations
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Haemorrhagic features
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Cerebral features
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Pulmonary features
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Magnetic resonance imaging (MRI) brain
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Graduated treatment of epistaxis
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Synonym
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References
- Trerotola SO, Pyeritz RE. PAVM embolization: an update. Am J Roentgenol 2010; 195:837-845.
- Shovlin CL, Letarte M. Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999; 54:714-729.
- Brinjikji W, Iyer VN, Sorenson T, Lanzino G. Cerebrovascular manifestations of hereditary hemorrhagic telangiectasia. Stroke 2015; 46:3329-3337.
- Faughnan ME, Mager JJ, Hetts SW, et al. Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Ann Intern Med 2020 (Online ahead of print).
- van Gent MW, Velthuis S, Post MC, et al. Hereditary hemorrhagic telangiectasia: how accurate are the clinical criteria? Am J Med Genet A 2013; 161A:461-466.
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