What is the management of Sneddon's syndrome?

Management of Sneddon's Syndrome

The management of Sneddon's syndrome should focus on anticoagulation therapy with warfarin as the primary treatment, particularly for patients with recurrent cerebrovascular events, given the evidence supporting its efficacy in this thrombotic vasculopathy.

Disease Overview

Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by:

• Livedo racemosa (patchy, violaceous skin discoloration)
• Recurrent cerebrovascular events
• Primarily affecting women with median age of diagnosis at 40 years
• Histopathology showing noninflammatory thrombotic vasculopathy of medium and small-sized arteries 1

SS is classified into two main types:

• Antiphospholipid antibody (aPL) positive (approximately 40-50% of cases)
• Antiphospholipid antibody negative

Diagnostic Approach

Key diagnostic criteria include:

• Generalized livedo racemosa with characteristic histopathological findings on skin biopsy
• Focal neurological deficits
• Neuroimaging evidence of multiple territory strokes 2

Important considerations:

• Livedo racemosa may precede stroke by more than 10 years
• Some patients may present with stroke without initial evidence of skin manifestations 3
• Evaluate for antiphospholipid antibodies (lupus anticoagulant, anticardiolipin antibodies)

Treatment Algorithm

1. Antithrombotic Therapy

For aPL-positive Sneddon's syndrome:

• Long-term anticoagulation with warfarin is recommended as first-line therapy 4, 5
• Target INR: 2.0-3.0
• Rationale: Evidence suggests warfarin is superior to antiplatelet therapy in preventing recurrent thrombotic events

For aPL-negative Sneddon's syndrome:

• Antiplatelet therapy (aspirin) as first-line treatment
• Consider warfarin for patients with recurrent strokes despite antiplatelet therapy 5

2. Acute Stroke Management

• Consider intravenous thrombolysis for acute ischemic stroke if presenting within the appropriate time window
• Evidence suggests thrombolytic therapy may be safe and effective in SS patients 6
• Standard stroke protocols should be followed with careful monitoring

3. Additional Therapeutic Options

For refractory cases:

• Consider hydroxychloroquine (especially in aPL-positive cases) for its antithrombotic properties 3
• Immunosuppressive therapy may be considered in selected cases with evidence of inflammatory markers, though evidence is controversial 2

For patients with recurrent TIAs despite optimal medical therapy:

• Neurosurgical options such as extracranial to intracranial bypass may be considered in select patients with hemodynamic compromise 3

4. Management of Non-Neurological Manifestations

• Regular cardiac evaluation for valvular abnormalities
• Monitor for systolic hypertension
• Regular ophthalmologic examinations for retinal changes 1

Monitoring and Follow-up

• Regular neurological assessment
• Periodic neuropsychological evaluation (attention, concentration, visual perception)
• Skin examination for progression of livedo racemosa
• Neuroimaging to assess for new silent infarcts

Prognosis

The neuropsychiatric prognosis of Sneddon's syndrome is relatively poor, with predominant deficits in:

• Concentration
• Attention
• Visual perception
• Visuospatial skills 1

Early diagnosis and appropriate anticoagulation therapy may help prevent stroke recurrence and limit cognitive decline.

Common Pitfalls and Caveats

1. Misdiagnosis as primary vasculitis leading to inappropriate immunosuppressive therapy
2. Failure to recognize SS in patients presenting with stroke without initial skin manifestations
3. Inadequate anticoagulation in aPL-positive patients
4. Underestimation of cognitive impairment and its impact on quality of life
5. Lack of recognition that SS is a thrombotic vasculopathy rather than an inflammatory condition, leading to inappropriate treatment choices 5