Sneddon's syndrome

Autosomal dominant - en

Sneddon's syndrome

Sneddon's syndrome is a rare, progressive vascular disease characterized by the combination of cerebrovascular disease and livedo reticularis. It was first described by Dr. Ian Sneddon in 1965. The condition primarily affects young to middle-aged adults and has a higher prevalence in females.

Clinical Features

The hallmark features of Sneddon's syndrome include:

• Livedo reticularis: A mottled, purplish discoloration of the skin, typically affecting the limbs and trunk.
• Cerebrovascular disease: This can manifest as recurrent strokes, transient ischemic attacks (TIAs), or other neurological deficits.

Other symptoms may include:

• Headaches
• Seizures
• Cognitive impairment
• Hypertension
• Heart disease

Pathophysiology

The exact cause of Sneddon's syndrome is unknown, but it is believed to involve an autoimmune mechanism. The condition is associated with the presence of antiphospholipid antibodies, which are thought to contribute to the formation of blood clots in the arteries and veins.

Diagnosis

Diagnosis of Sneddon's syndrome is based on clinical findings and the exclusion of other conditions. Key diagnostic criteria include:

• Presence of livedo reticularis
• History of cerebrovascular events
• Exclusion of other causes of livedo reticularis and stroke

Additional tests may include:

• Magnetic resonance imaging (MRI) of the brain
• Doppler ultrasound of the blood vessels
• Blood tests for antiphospholipid antibodies

Treatment

There is no cure for Sneddon's syndrome, and treatment is primarily aimed at managing symptoms and preventing further vascular events. Treatment options may include:

• Anticoagulants such as warfarin to prevent blood clots
• Antiplatelet agents like aspirin
• Immunosuppressive therapy in cases with significant autoimmune involvement
• Management of risk factors such as hypertension and hyperlipidemia

Prognosis

The prognosis for individuals with Sneddon's syndrome varies. Some patients may experience a relatively stable course, while others may have recurrent strokes and progressive neurological decline. Early diagnosis and appropriate management are crucial in improving outcomes.

Related Pages

• Livedo reticularis
• Cerebrovascular disease
• Antiphospholipid syndrome
• Autoimmune disease
• Stroke