Hughes–Stovin syndrome

Overview

Hughes–Stovin syndrome is an extremely rare autoimmune disorder characterized by the combination of deep vein thrombosis and pulmonary artery aneurysms. It is considered a variant of Behçet’s disease due to overlapping clinical features but is distinct in its presentation. The condition is potentially life-threatening due to the risk of massive pulmonary hemorrhage resulting from ruptured aneurysms. Hughes–Stovin syndrome primarily affects young adult males and has been reported in very limited cases worldwide.

Causes

The exact cause of Hughes–Stovin syndrome is unknown, but it is believed to have an autoimmune or vasculitic basis. The syndrome involves inflammation of blood vessels (vasculitis), which leads to the formation of aneurysms and thrombi. Although no specific genetic or environmental triggers have been definitively identified, immune system dysregulation is suspected to play a central role. It shares some pathogenic mechanisms with Behçet’s disease, further supporting an autoimmune etiology.

Symptoms

Hughes–Stovin syndrome typically presents with the following signs and symptoms:

• Recurrent deep vein thrombosis, especially in the legs

• Pulmonary artery aneurysms (which may lead to hemoptysis or coughing up blood)

• Fever, fatigue, and malaise

• Chest pain and difficulty breathing (if pulmonary involvement is severe)

• Headaches or neurological symptoms (if cerebral venous thrombosis occurs)

The combination of thrombosis and aneurysm formation is key to distinguishing this syndrome from other forms of vasculitis or thrombotic disorders.

Diagnosis

Diagnosing Hughes–Stovin syndrome requires a high index of suspicion due to its rarity and overlapping features with other conditions. The diagnostic process may include:

• Imaging studies such as CT angiography or pulmonary angiography to identify aneurysms

• Doppler ultrasound or venography for detecting deep vein thrombosis

• Laboratory tests to rule out infections, coagulation disorders, and other vasculitides

• Exclusion of Behçet’s disease (absence of oral/genital ulcers may support Hughes–Stovin diagnosis)

Biopsy of vascular tissue may be performed but is often avoided due to the risk of bleeding from aneurysmal vessels.

Treatment

Treatment of Hughes–Stovin syndrome focuses on controlling inflammation, preventing thrombosis, and managing aneurysms. Management strategies include:

• Immunosuppressive therapy: High-dose corticosteroids and cytotoxic agents such as cyclophosphamide to reduce vasculitis

• Anticoagulation: Used cautiously and often avoided if aneurysms are at high risk of rupture

• Surgical or endovascular intervention: For large or life-threatening pulmonary aneurysms

• Supportive care: Includes oxygen therapy, transfusions, and treatment of secondary infections

Treatment must be closely monitored due to the risk of fatal hemorrhage.

Prognosis

The prognosis of Hughes–Stovin syndrome varies depending on the extent and severity of vascular involvement. If diagnosed early and treated aggressively, some patients achieve disease stabilization. However, the presence of pulmonary artery aneurysms significantly increases the risk of life-threatening complications, particularly massive hemoptysis. Without treatment, the condition often leads to fatal outcomes. Long-term prognosis remains guarded, and close follow-up is essential for managing disease activity and preventing relapse.