INTRODUCTION: Hughes-Stovin Syndrome (HSS) is an extremely rare disorder in which individuals, mostly young men, develop multiple pulmonary aneurysms and deep vein thromboses (DVT). Among the 38 published cases of HSS, intracardiac thrombi in the absence of DVT is a rare finding. We describe a patient with multiple pulmonary aneurysms and a right ventricular thrombus, without evidence of peripheral venous thrombosis, which we believe represents a variant of HSS.
CASE PRESENTATION: A 29-year-old man presented with cough and hemoptysis for two weeks. A contrast-enhanced CT of the chest was notable for multiple bilateral pulmonary arterial aneurysms, subsegmental pulmonary emboli, and a right ventricular thrombus extending into the main pulmonary artery. A transthoracic echocardiogram confirmed the presence of a mobile mass in the right ventricle. Lower extremity dopplers were negative for deep vein thrombosis. A hypercoagulability workup was also negative. Based on the findings of pulmonary arterial aneurysms in the absence of classical features of Behcet’s disease, a diagnosis of Hughes-Stovin Syndrome was made. Despite the presence of the right ventricular thrombus and multiple subsegmental pulmonary emboli, anticoagulation was held due to the risk of precipitating massive hemoptysis. Instead, the patient received pulse-dose prednisone and cyclophosphamide, and his hemoptysis resolved after approximately 2 weeks.
DISCUSSION: In 1911, Beattie and Hall were the first to report an association between pulmonary aneurysms and lower extremity deep venous thrombosis (DVT). Hughes and Stovin subsequently described a case series of 4 men in 1959 with similar findings. Thus, the classic definition of HSS is of pulmonary arterial aneurysms with peripheral venous thrombosis. Among the vasculitides, only Behcet’s Disease and HSS are known to cause pulmonary aneurysms. In fact, many experts hypothesize that HSS may be a subset of Behcet’s, perhaps representing a form of “incomplete Behcet’s.” Therefore, although the exact etiology is unknown, HSS is usually treated as an autoimmune disorder. Management centers on prevention and control of hemoptysis with either surgical resection of focal pulmonary aneurysms or embolization of multiple pulmonary aneurysms, and pulse steroids with immunosuppressive therapy. Due to the frequency of concomitant DVT's, the question of systemic anticoagulation is often raised. However, most authors agree that the risk of massive hemorrhage outweighs the risk of pulmonary embolism, and therefore, anticoagulation is contraindicated in most cases until the pulmonary aneurysms have been resected. In our patient who presented with hemoptysis, multiple pulmonary arterial aneurysms, a right ventricular thrombus, and absence of other features typical of Behcet’s, a diagnosis of HSS was the most logical conclusion, even though the patient did not have a classic DVT. Findings of intracardiac thrombi are unusual, and even rarer when not in association with lower extremity thrombosis. Among the 38 case reports of HSS published in the English literature, only 6 patients were found to have intracardiac thrombi, of which only 2 of them did not have concurrent DVT. Thus, the diagnosis of HSS in our patient was initially confounded by the atypical presentation.
CONCLUSIONS: The diagnosis of Hughes-Stovin syndrome can be challenging if the criteria for deep venous thrombosis is strictly adhered to. Given the estimated 15% prevalence of right-sided intracardiac thrombi among published series, we suggest that the definition of HSS be expanded to encompass these not so infrequent variants of the disease.
Reference #1 Emad Y, Ragab Y, Shawki Ael-H, Gheita T, El-Marakbi A, Salama MH: Hughes-Stovin syndrome: is it incomplete Behçet's? Report of two cases and review of the literature. Clin Rheumatol. 2007 Nov;26(11):1993-6. Epub 2007 Apr 25.
DISCLOSURE: The following authors have nothing to disclose: Minggen Kuo, Ching-Fei Chang, Chrystal Bradley, Corey Chakarun, Alison Wilcox
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