Hereditary haemorrhagic telangiectasia with multiple complications presenting in an older patient

摘要

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant multi-organ vascular disorder associated with bleeding and a reduced life expectancy. We present a 91-year-old woman with complications of previously undiagnosed HHT. This case demonstrates three potential complications: pulmonary arteriovenous malformation (AVM) resulting in a right to left shunt, cerebral infarctions and pericardial effusion. Despite these potentially life-threatening complications and the reduced life-expectancy associated with HHT the patient has survived to an advanced age. Due to the patients late diagnosis and frailty, the treatment options of AVM embolization and pericardiocentesis were deemed inappropriate. The patient was treated with tranexamic acid to reduce bleeding severity and discharged home with a care package and home oxygen.