Hughes-Stovin Syndrome

Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.

Epidemiology

Prevalence is unknown but fewer than 30 cases have been reported in the literature since its first description in 1959 by Hughes and Stovin.

Clinical description

Patients (mostly men aged 12-40 years) generally present with the nonspecific signs of PAA (hemoptysis, cough, dyspnea, chest pain, and signs of pulmonary hypertension), following a history of peripheral venous thrombosis. Other associated signs may include fever and intracranial hypertension. Aneurysms usually involve the pulmonary arteries and the bronchial arteries resulting in subsequent hemoptysis. However, they can occur anywhere in systemic circulation. Recurrent phlebitis also commonly involves the large vessels, resulting in thrombus formation. In general, there is a predisposition for thrombus formation affecting the peripheral veins. Thrombosis of the vena cava and of the right atrium has also been described.

Etiology

The etiology of HSS is unknown; however, it is assumed that HSS is a form of vasculitis following a similar mechanism of pathogenesis to that thought to be involved in BD.

Diagnostic methods

Diagnosis of HSS is made on the basis of the clinical picture (association of venous thrombosis and PAAs in a young patient), patient history and imaging studies (chest radiographs, conventional angiography or helical computed tomography) for detection and evaluation of the PAAs. Histologic studies show destruction of the arterial wall and perivascular lymphomonocytic infiltration of capillaries and venules.

Differential diagnosis

The pulmonary manifestations of HSS and BD have been reported to be identical, but the two syndromes can be distinguished on the basis of the absence of mucocutaneous findings in HSS.

Management and treatment

Initial management of HSS often involves administration of corticosteroids, usually in combination with cytotoxic agents (intravenous cyclophosphamide followed by oral azathioprine) to stabilize the PAAs. Despite the presence of thrombosis, anticoagulants are contraindicated due to the risk of life-threatening PAA rupture. Surgical resection provides an effective treatment option for patients with unilateral or localized PAAs and less invasive approaches such as transcatheter embolization may be feasible in some cases.

Prognosis

As most patients with HSS are diagnosed late in the disease course, the syndrome is associated with significant mortality due to massive hemoptysis resulting from PAA rupture or systemic bronchial artery hypertrophy secondary to ischemia related to the pulmonary artery occlusion.