Beyond the ordinary: TNF-alpha inhibitor as a rescue therapy in relapsing Hughes–Stovin syndrome with intracardiac thrombosis—a case report and literature review

Abstract Background Hughes–Stovin syndrome (HSS) is a rare vasculitis characterized by the association of thrombophlebitis with pulmonary artery aneurysms (PAAs). Because it is rarely reported, there are currently no established diagnostic criteria or standardized treatment guidelines for HSS. While conventional immunosuppressants are generally effective as first-line treatment, relapsing and refractory cases urge the need to investigate alternative therapies, such as TNF-alpha inhibitors. However, with only five cases published in the literature, knowledge of their efficacy in HSS is very limited. Case summary A 28-year-old man, with no past medical history, presented with haemoptysis, chest pain, and dyspnoea on exertion. Physical examination found bilateral leg swelling, with no associated lesions. CT angiography showed multiple bilateral PAA, proximal pulmonary artery thrombosis (PAT), and deep venous thrombosis (DVT) in the superior mesenteric vein and spleno-mesaraic confluence. Echocardiography was performed, identifying right intracardiac thrombosis (ICT). Initial management included high-dose corticosteroids and monthly cyclophosphamide cycles, followed by maintenance treatment with oral azathioprine. Eighteen months later, the patient presented with haemoptysis revealing a relapse of ICT and two new PAA. Infliximab was initiated, allowing complete and sustained remission after one year of follow-up. Discussion We report the challenging case of an HSS patient presenting with multiple PAA, proximal PAT, right ICT, and extended abdominal DVT. The positive response of our patient to infliximab, following a relapse under conventional immunosuppressants, supports the efficacy of TNF-alpha inhibitors as second-line treatment in relapsing/refractory HSS.