Hughes–Stovin syndrome: An uncommon cause of pulmonary aneurysm and thrombosis

Dear Editor, A 26-year-old man was diagnosed with pneumonia and treated repeatedly at another hospital due to cough and bloody sputum. Upon presentation to our hospital, he denied oral, genital, and nasal lesions. He reported pain in his extremities, particularly his right lower limb. He denied smoking, alcoholism, and drug use. Laboratory test findings were unremarkable, bronchoscopy findings were normal, and molecular tuberculosis and pathergy tests yielded negative results. Doppler ultrasound of the lower limbs, performed due to the reported pain, showed extensive deep vein thrombosis in the right lower limb. Chest angiotomography revealed bilateral aneurysms in the pulmonary arteries, as well as irregular dilation of the left pulmonary artery [Figure 1]. Hughes–Stovin syndrome (HSS) was then diagnosed. Treatment was initiated with pulse therapy with cyclophosphamide and methylprednisolone, in addition to oral prednisone and enoxaparin. An excellent response was obtained, and a follow-up computed tomography (CT) examination performed one year after treatment initiation showed the significant reduction of the previous CT findings [Figure 2]. The patient is currently asymptomatic.Figure 1: Axial (a), coronal (b), and sagittal (c) chest computed tomography images showing aneurysms in arterial branches in the lower lobes (arrows in a) and irregular dilation with aneurysmal formations in the left pulmonary artery (arrowheads). (d) A three-dimensional reconstruction that better demonstrates the aneurysmal dilatation of the left pulmonary artery (arrowheads)Figure 2: Axial (a), coronal (b), and sagittal (c) chest computed tomography images obtained one year after the first examination and three-dimensional reconstruction (d) showing complete resolution of the aneurysms and normal appearance of the pulmonary arteryHSS is a rare systemic disease characterized by multiple pulmonary and/or bronchial aneurysms, thrombophlebitis, and deep vein thrombosis. The current consensus is that HSS results from vasculitis similar to that seen in Behçet’s disease (BD). Several investigators have suggested that HSS is actually a variant of BD, rather than a distinct clinical entity, due to the similarity of the two conditions’ clinical, radiological, and pathological characteristics.[1-4] The diagnosis of HSS is based mainly on clinical manifestations after other potential causes have been ruled out. Imaging tests, particularly Doppler ultrasound of the lower limbs and pulmonary angiography, are essential for diagnosis, given the condition’s lack of specific laboratory, histopathological, and genetic findings. The main differential diagnosis is BD. BD can be ruled out based on its distinctive classic features (uveitis, recurrent mouth, and genital ulceration), which are absent in HSS.[2,4] The formation of pulmonary aneurysms in HSS has been attributed to the weakening of the vessel walls by an inflammatory process. Other hypotheses proposed to explain these changes include septic embolism and angiodysplasia of the bronchial arteries. Aneurysms can be single or multiple, unilateral or bilateral, and can even arise at other sites (in the iliac, femoral, popliteal, carotid, or hepatic artery), where the risk of rupture is lower.[3,5] No standard treatment for HSS is available; the most widely used treatment option is immunosuppression therapy involving a combination of glucocorticoids and cyclophosphamide, which has the potential to stabilize aneurysms and even promote regression in some cases. Other possible treatments include surgical resection and arterial embolization, which are used in most cases involving massive hemoptysis.[1-4] In conclusion, HSS is associated with serious morbidity and mortality; the mortality is related to unpredictable massive hemoptysis. Thus, the early recognition of this pulmonary complication is critical. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. Conflicts of interest The authors declare that there are no conflicts of interest that are relevant to the publication of this paper.