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)
PAVM screening to reduce risk of stroke and brain abscess
Cerebral AV shunts: done in some countries and not in others
Localized bleeding: packing, laser or ablation
Systemic bleeding: Hormones, anti-fibrinolytic and now under investigation, angiogenesis inhibitors