Systemic sclerosis is a chronic autoimmune connective tissue disease characterised by skin fibrosis (scleroderma), fibrosis of the internal organs, vasculopathy, and immune system dysregulation.
It is more common in women and peaks between 60 and 70 years.
Classification
| Classification | Description |
|---|---|
| Limited cutaneous systemic sclerosis | This involves a large area of the body. Anti-topoisomerase (Scl-70) and anti-RNA polymerase antibodies may be present. Internal organ involvement is more severe with a higher risk of renal crisis, interstitial lung disease, and cardiac involvement. Its prognosis is poor. |
| Diffuse cutaneous systemic sclerosis | This involves a large area of the body. Anti-topoisomerase (Scl-70) and anti-RNA polymerase antibodies may be present. Internal organ involvement is more severe with a higher risk of renal crisis, interstitial lung disease and cardiac involvement. Its prognosis is poor. |
- Pathophsyiology
- Autoantibody and cytokine production → chronic inflammation → activation of fibroblasts and differentiation into myofibroblasts → excessive deposition of extracellular matrix components in the skin and internal organs → fibrosis and organ dysfunction
- Endothelial injury → vascular dysfunction → vasospasms and obliteration of vascular lumen → hypertension, pulmonary arterial hypertension, Raynaud’s phenomenon, and digital ulcers
- Signs and symptoms
- Skin fibrosis
- Thickening, tightening, and hardening
- Starts distally and progresses proximally
- Raynaud’s phenomenon
- Dysphagia
- Gastroesophageal reflux
- Motility disorders affecting the esophagus, stomach, and intestines
- Interstitial lung disease and pulmonary hypertension
- Shortness of breath
- Cough
- Chest pain
- Hypertension
- Renal failure
- Joint pain and stiffness
- Contractures due to fibrosis of the joint capsules and tendons
- Skin fibrosis
- Physical examination
- Abnormal capillary patterns on nailfold capillaroscopy
- Dilatation
- Avascular areas
- Neangiogenesis
- Abnormal capillary patterns on nailfold capillaroscopy
- Differentials
- Mixed connective tissue disease
- Undifferentiated connective tissue disease
- Investigations
- Anti-topoisomerase I (Scl-70) positive for diffuse cutaneous systemic sclerosis
- Anti-centromere positive for limited cutaneous systemic sclerosis
- Anti-RNA polymerase III positive
- High-res CT scan for interstitial lung disease
- Echocardiography for pulmonary hypertension
- Skin biopsy
- Dermal fibrosis and collagen deposition
- Treatment
- No cure currently exists
- Physiotherapy and occupational therapy
- Psychological support
- Strict blood pressure control
- Monitor renal function
- Regular ACEi or ARBs to reduce the risk of renal crisis
- CCBs, phosphodiesterase-5 inhibitors, and prostacycline analogues for Raynaud’s phenomenon, digital ulcers, and pulmonary hypertension
- Immunosuppressants for organ involvement or rapidly progressive skin disease
- PPIs and prokinetic agents for GERD and motility disorders
- Antifibrotic tyrosine kinase
- Complications
- Interstitial lung disease
- Pulmonary arterial hypertension (PAH)
- Scleroderma renal crisis
- Myocardial fibrosis
- Arrhythmia
- Heart failure
- Gastroparesis
- Intestinal pseudo-obstruction
- Prognsis
- 10-year survival rate over 70%. This varies based on multiple prognostic factors.