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Also known as Rendu-Osler-Weber syndrome, hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder that leads to abnormal blood vessel formation in the skin, mucous membranes and often in organs such as lungs, liver and brain.1 At clinical inspection, patients frequently present with skin, lip and/or tongue telangiectasias. Common clinical symptoms include frequent epistaxis and less commonly acute and chronic digestive tract bleeding.1 About 15%–35% of patients with HHT will present with pulmonary arteriovenous malformations (PAVMs).2 As the spontaneous complication rate can reach up to 50%, PAVMs patients require screening on CT scan examination.
PAVMs complications include spontaneous rupture and subsequent life-threatening haemoptysis/haemothorax, a right-to-left shunting leading to paradoxical embolism causing stroke or cerebral abscess or pulmonary hypertension.2 ,3 Treatment is based on antibiotic prophylaxy and percutaneous transcatheter embolisation of the diagnosed PAVM that are screened on imaging means.2 ,3
A 57-year-old female patient was referred to our institution soon after having an air …
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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