Hughes-Stovin syndrome without venous involvement – Unusual presentation of a rare disease: Case report and review of the literature

Abstract

IntroductionHughes-Stovin syndrome (HSS) is a very rare clinical disorder characterized by thrombophlebitis and multiple pulmonary aneurysms. Most patients develop peripheral venous thrombosis. However, intracardiac thrombosis is rarely reported in patients with HSS, and represents a challenge in treatment and follow up. Case presentationA 34-year-old male patient presented with history of ruptured left pulmonary artery aneurysm. 1year later later the patient developed a new attack of hemoptysis. His work-up revealed concomitant intracardiac and right pulmonary artery thrombosis. There was no venous involvement. In addition, there were no other systemic manifestations thus the patient was diagnosed as Hughes-Stovin syndrome. The choice of treatment was challenging. However, clinical and radiological improvement was observed after pulse steroid, cyclophosphamide and anticoagulation. The patient received treatment in the form of intravenous pulse methyl prednisolone 1 gm for 3 days after which hemoptysis improved and the patient became generally better and was extubated. After control of hemoptysis therapeutic dose of low molecular weight heparin was started then warfarin. Patient was maintained on monthly cyclophosphamide for 1 year. After 1 year, there was no intra cardiac thrombus detected by follow up echocardiography and pulmonary hypertension improved. A review of the literature and summary of the previously published cases reports is presented. ConclusionHSS is a rare type of vasculitis, which can present with arterial, venous and/or intracardiac thrombosis even without other systemic manifestations. HSS can present without venous involvement. HSS require aggressive immune suppressive treatment, however anticoagulation and surgery can be attempted when indicated.