Hereditary haemorrhagic telangiectasia (HHT)

Evidence-based neurology checklist on hereditary haemorrhagic telangiectasia (hht): Genetic types HHT type 1: ENG gene mutations HHT type 2: ACVRL1 gene mutations HHT overlap: SMAD4 gene mutations Curacao diagnostic criteria Arteriovenous malformations (AVMs): epidemiology Arteriovenous…

Genetic types

  • HHT type 1: ENG gene mutations
  • HHT type 2: ACVRL1 gene mutations
  • HHT overlap: SMAD4 gene mutations

Curacao diagnostic criteria

Arteriovenous malformations (AVMs): epidemiology

Arteriovenous malformations (AVMs): sites

Telangiectasias (dilated blood vessels): locations

Haemorrhagic features

Cerebral features

Pulmonary features

Magnetic resonance imaging (MRI) brain

Graduated treatment of epistaxis

Synonym

References

  1. Trerotola SO, Pyeritz RE. PAVM embolization: an update. Am J Roentgenol 2010; 195:837-845.
  2. 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.
  3. Brinjikji W, Iyer VN, Sorenson T, Lanzino G. Cerebrovascular manifestations of hereditary hemorrhagic telangiectasia. Stroke 2015; 46:3329-3337. 
  4. 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).
  5. 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. 
  6. And 3 more. Subscribe to see the full list

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