Treatment for Degos Disease
Eculizumab is the most promising treatment for Degos disease, targeting the C5b-9 complement pathway that contributes to the unique vascular changes in this condition. 1
Disease Overview
Degos disease, also known as malignant atrophic papulosis, is a rare thrombo-occlusive vasculopathy characterized by:
- Distinctive skin lesions: porcelain-white atrophic papules with peripheral erythema and telangiectases 2
- Potential multisystem involvement affecting the gastrointestinal tract, central nervous system, and other organs 3
- High mortality when systemic involvement occurs, particularly with gastrointestinal manifestations 4
Pathophysiology
The disease appears to involve:
- Dysregulated interferon-α response combined with membranolytic attack complex (C5b-9) deposition 1
- Endothelial cell injury leading to pauci-inflammatory thrombogenic microangiopathy 1
- Fibromucinous occlusive arteriopathy in extracutaneous organs 1
Clinical Presentation
Patients typically present with:
- Characteristic skin lesions: pink to brown papules with central depression and surrounding violaceous rim distributed over the trunk and extremities 5
- Gastrointestinal involvement: acute abdominal pain, bowel infarction, perforation 4
- Potential involvement of other organs including brain, pericardium, pleura, kidney, lungs, and liver 1, 3
Diagnosis
Diagnosis is based on:
- Identification of pathognomonic skin lesions 3
- Tissue biopsy demonstrating wedge-shaped areas of necrosis with thrombotic occlusion of small arterioles 3
- High index of suspicion in patients with acute abdominal pain and typical atrophic papules 4
Treatment Approach
First-line Therapy
- Eculizumab: Terminal complement inhibitor targeting the C5b-9 pathway 1
- Addresses the underlying pathophysiology of complement-mediated endothelial damage
- Most promising targeted therapy based on understanding of disease mechanism
Alternative/Adjunctive Therapies
Antiplatelet agents:
- Aspirin may be used but has shown limited efficacy in preventing recurrent vascular events 5
- Consider in combination with primary therapy
Immunomodulatory therapies:
- Consider in cases with evidence of autoimmune features 2
- May be particularly relevant in variants with lupus-like or dermatomyositis-like features
Monitoring and Management
- Regular monitoring for gastrointestinal complications, which are often fatal 4
- Vigilance for neurological symptoms indicating CNS involvement 1
- Prompt surgical intervention for bowel perforation, though recurrent perforations may occur 4
Prognosis
- Poor prognosis when systemic involvement occurs, particularly with gastrointestinal manifestations 4
- Some patients may have a more benign cutaneous-only variant 2
- Recurrent bowel infarctions and septic complications are common causes of mortality 5
Special Considerations
- Degos disease may represent an end-point of various vascular insults rather than a specific entity 2
- May overlap with or mimic rheumatic diseases, requiring careful differential diagnosis 5
- Some cases may occur in the setting of known autoimmune diseases 1
Understanding the pathophysiology involving interferon-α and C5b-9 deposition provides the rationale for targeted therapy with complement inhibitors like eculizumab, which represents the most promising approach to this otherwise often fatal disease.