Hereditary haemorrhagic telangiectasia

external

• Synonyms

  • HHT
  • Osler-Weber-Rendu syndrome

• Causes

  • ACVRL1 gene mutation

• Effects

  • Fragile blood vessel
  • Epistaxis
  • Telangiectasia
  • Bleeding of oral mucosa
  • Upper gastrointestinal bleed
  • Pulmonary arteriovenous malformation
  • Cerebral arteriovenous malformation
  • Retinal haemorrhage

• Parents

  • Autosomal dominant disorder
  • Congenital skin disease

• Treatments

  • Oral contraceptive pill

• Description

  • "Dilated tortuous thin-walled blood vessels"