Hughes–Stovin syndrome

Blausen 0290 DeepVeinThrombosis

Hughes–Stovin syndrome is a rare autoimmune disease characterized by the combination of pulmonary artery aneurysms and deep vein thrombosis. It is considered a variant of Behçet's disease due to the similarities in clinical presentation, although it is much less common. The syndrome is named after British physicians John Patterson Hughes and Peter George Ingle Stovin, who first described the condition in 1959.

Clinical Features

Patients with Hughes–Stovin syndrome typically present with symptoms such as hemoptysis (coughing up blood), fever, weight loss, and dyspnea (shortness of breath). The hallmark of the disease is the presence of multiple pulmonary artery aneurysms, which can lead to life-threatening hemorrhage. Deep vein thrombosis is another significant feature, often affecting the lower extremities.

Pathophysiology

The exact cause of Hughes–Stovin syndrome is unknown, but it is believed to be an autoimmune disorder involving vasculitis (inflammation of blood vessels). The immune system mistakenly attacks the blood vessels, leading to the formation of aneurysms and thrombosis. The syndrome shares many features with Behçet's disease, including oral ulcers, genital ulcers, and uveitis.

Diagnosis

Diagnosis of Hughes–Stovin syndrome is challenging due to its rarity and the overlap of symptoms with other conditions. It typically involves a combination of clinical evaluation, imaging studies such as CT scan or MRI to identify pulmonary artery aneurysms, and laboratory tests to rule out other causes of vasculitis and thrombosis. Angiography may also be used to visualize the aneurysms.

Treatment

There is no standardized treatment for Hughes–Stovin syndrome due to its rarity. Management often involves the use of immunosuppressive drugs such as corticosteroids, cyclophosphamide, and azathioprine to control the underlying autoimmune process. Anticoagulants may be used to manage thrombosis, although their use is controversial due to the risk of bleeding from aneurysms. In some cases, surgical intervention may be necessary to repair or remove aneurysms.

Prognosis

The prognosis for Hughes–Stovin syndrome varies and depends on the severity of the disease and the response to treatment. Early diagnosis and aggressive management are crucial for improving outcomes. The risk of fatal hemorrhage from pulmonary artery aneurysms remains a significant concern.

Related Pages

• Behçet's disease
• Vasculitis
• Pulmonary artery aneurysm
• Deep vein thrombosis
• Autoimmune disease