Probable Hughes-Stovin Syndrome Presenting with Right Ventricular Thrombus, Recurrent Venous Thrombosis, and Bilateral Pulmonary Artery Aneurysms in an 18-Year-Old Man: A Case Report

Hughes-Stovin syndrome (HSS) is a rare, potentially fatal vasculitic disorder characterised by venous thrombosis and pulmonary artery aneurysms (PAAs).It is considered a variant of Behçet disease that spares the oro-mucosal surfaces.We report an 18-year-old man with autism spectrum disorder and a prior right calf deep vein thrombosis (DVT) who presented with a one-month history of malaise, anorexia, intermittent fevers and rigours.Markedly elevated inflammatory markers, computed tomography (CT) imaging confirming a right ventricular mass, multifocal pulmonary arterial occlusion and hepatic infarction, and echocardiography and cardiac magnetic resonance imaging (MRI) confirming right ventricular thrombus prompted extensive investigation.Doppler ultrasound revealed bilateral common femoral vein thrombosis.Repeated infectious work-up was negative.Over subsequent months, he developed bilateral PAAs, recurrent pyrexia, and haemoptysis.He died from catastrophic pulmonary haemorrhage secondary to PAA rupture.This case illustrates the diagnostic challenges of HSS and the critical importance of recognising the combination of unexplained fever, recurrent venous thrombosis, and PAAs.Early consideration of vasculitic aetiology may alter management and reduce the risk of fatal haemorrhage.