Sneddon syndrome

Sneddon syndrome is a rare, progressive, non-inflammatory thrombotic vasculopathy characterized by the combination of livedo racemosa (a persistent, widespread, violaceous net-like discoloration of the skin) and cerebrovascular disease, including ischemic strokes and transient ischemic attacks (TIAs). The condition primarily affects the vascular system, with involvement of small- and medium-sized arteries. It predominantly occurs in young to middle-aged women, typically presenting between the ages of 20 and 42 years. Neurological manifestations may include recurrent strokes, cognitive decline, dementia, headaches, seizures, and psychiatric symptoms. Cardiac involvement, including valvular heart disease (particularly mitral valve abnormalities), and systemic hypertension are also frequently observed. Sneddon syndrome exists in two forms: an idiopathic (primary) form and a form associated with antiphospholipid antibodies (antiphospholipid syndrome-related Sneddon syndrome). The antiphospholipid antibody-positive variant is more common and may overlap with antiphospholipid syndrome. A rare familial form has been described with autosomal dominant inheritance, linked in some cases to mutations in the CECR1 gene (now called ADA2), though most cases are sporadic. Skin biopsy of livedo lesions typically shows endothelial proliferation and thrombosis of dermal and subdermal arteries without vasculitis. There is no curative treatment for Sneddon syndrome. Management focuses on secondary stroke prevention, primarily through anticoagulation therapy (such as warfarin) or antiplatelet agents (such as aspirin), although the optimal antithrombotic strategy remains debated. Control of cardiovascular risk factors, including hypertension, is essential. Immunosuppressive therapy may be considered in antiphospholipid antibody-positive cases. Long-term neurological follow-up is important due to the risk of progressive cognitive impairment and recurrent cerebrovascular events.

Common questions about Sneddon syndrome