Rupture of a pulmonary arteriovenous malformation: a diagnosis not to be missed

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 flight from Bogota to Paris. She presented with severe chest pain and acute dyspnoea. Biological symptoms included anaemia and increased D-dimer serum levels. As patient was suspected for pulmonary embolism, chest X-ray was performed and showed an abundant left pleural fluid effusion (figure 1). Contrast-enhanced CT identified a high-density pleural effusion consistent with haemothorax. Multiplanar CT scan reformation showed a single PAVM located in the segment 9 that was fed by a large and tortuous afferent artery, and a bleeding aneurismal sac that was ruptured into the left pleural space (figure 2). Close clinical examination of the patient revealed numerous skin and mucous telangiectasias and patient complained of frequent epistaxis; HHT diagnosis was eventually made.