HHT (Hereditary Hemorrhagic Telangiectasia)

  • HHT (also known as Osler-Weber-Rendu) is a an AD vascular disorder with a variety of clinical manifestations, of which the most common are recurrent epistaxis, GI bleeding and IDA.
  • Manifestations develop with increasing age with most individuals having sx by age 16 and over 90% by the age of 40
  • Most common manifestations:
    • Epistaxis: The majority experience recurrent and frequent epistaxis with many having daily bleeds which can lead to hemodynamic compromise and blood transfusion dependency.
    • GI bleeding: 1/3 of patients have recurrent GI bleeding, often presenting as IDA or acute GI bleed, most common in patients > 40. Telangiectasias occur most commonly in the stomach and duodenum and less commonly lead to AVMs and aneurysms.
    • Mucocutaneous telangiectasias: occur in 75% of patients and can increase in size and number with age, Mostly on lips, tongue, buccal mucosa and fingertips.
    • Other less common manifestations include pulmonary AVMs, cerebrovascular AVMs, hepatic AVMs and portal HTN, pulmonary HTN and venous thromboembolism
  • Diagnosis: Curacao consensus diagnostic criteria
    • Spontaneous, recurrent epistaxis, multiple mucocutaneous telangiectasias, visceral involvements, first degree relative with HHT (3 or 4/4 definite, 2/4 suspected)
  • Further screening:
    • PAVM screening to reduce risk of stroke and brain abscess
    • Cerebral AV shunts: done in some countries and not in others
  • Treatment:
    • Localized bleeding: packing, laser or ablation
    • Systemic bleeding: Hormones, anti-fibrinolytic and now under investigation, angiogenesis inhibitors