"gastrointestinal tract: 20-40%"
"recanalisation occurs in up to 20% post-embolisation"
"ENG: HHT type 1, most common mutation"
"ACVRL1: HHT type 2"
"SMAD4: associated with juvenile polyposis"
"GDF 2 14"
"36% of patients with solitary pulmonary AVM have hereditary haemorrhagic telangiectasia 13"
"nuclear medicine GI bleed study for active bleeding"
"gastrointestinal tract: 20-40%"
"venous thromboembolism"
"A twofold increase in mortality rate is noted in patients with hereditary haemorrhagic telangiectasia 18: usually from stroke, cerebral abscess, or massive haemorrhage"
Expected headings
"Prognosis"
"Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system."
"characteristic sites include: oral cavity, lips, fingers and nose"
"symptomatic liver involvement in hereditary haemorrhagic telangiectasia is uncommon but does occur; it has been attributed to three distinct clinical subtypes and is believed to be a consequence of the predominant hepatic shunt pattern 2"
"presence of contrast bubbles in the left atrium confirms the presence of a shunt; characteristically, this occurs late (after several cardiac cycles), indicating a pulmonary shunt rather than an intracardiac shunt"