Systemic scleroderma Slide 1 – Title SYSTEMIC SCLERODERMA Systemic Sclerosis Name Batch Department of Internal Medicine Slide 2 – Definition Chronic systemic autoimmune connective-tissue disease Characterized by: Vascular dysfunction Autoimmune abnormalities Excessive collagen deposition Fibrosis of skin and internal organs Slide 3 – Etiology & Risk Factors Exact cause unknown Genetic predisposition Autoimmune mechanisms Environmental factors Silica exposure Certain chemicals/drugs Vascular injury Slide 4 – Pathogenesis Endothelial injury ↓ Vascular dysfunction ↓ Immune activation ↓ Fibroblast activation ↓ Excess collagen production ↓ Fibrosis ↓ Skin + internal-organ involvement Slide 5 – Classification 1. Limited cutaneous systemic sclerosis Skin distal to elbows/knees Face commonly involved Slower progression 2. Diffuse cutaneous systemic sclerosis Skin proximal to elbows/knees Trunk involvement Greater internal-organ involvement 3. SSc sine scleroderma Internal-organ involvement Little/no obvious skin thickening Slide 6 – CREST Syndrome C – Calcinosis R – Raynaud phenomenon E – Esophageal dysfunction S – Sclerodactyly T – Telangiectasia Slide 7 – Clinical Features: Skin Raynaud phenomenon Puffy fingers Sclerodactyly Tight, shiny skin Facial skin tightening Reduced mouth opening Telangiectasia Digital ulcers Calcinosis Slide 8 – Musculoskeletal Features Arthralgia Joint stiffness Contractures Muscle weakness Tendon friction rubs Slide 9 – Gastrointestinal Features Esophageal dysmotility Dysphagia GERD Heartburn Bloating Malabsorption Intestinal dysmotility Slide 10 – Pulmonary Involvement Interstitial lung disease Pulmonary arterial hypertension Progressive dyspnea Dry cough Reduced pulmonary function Slide 11 – Renal & Cardiac Involvement Renal Scleroderma renal crisis Severe hypertension Acute kidney injury Cardiac Myocardial fibrosis Arrhythmias Pericardial disease Heart failure Slide 12 – Investigations Blood ANA Anti-Scl-70 Anti-centromere Anti-RNA polymerase III CBC ESR/CRP Renal function Other Nailfold capillaroscopy PFT – FVC, DLCO HRCT chest Echocardiography ECG GI investigations when indicated Slide 13 – Important Antibodies Antibody Association Anti-centromere Limited cutaneous disease Anti-Scl-70 Diffuse disease, ILD Anti-RNA polymerase III Diffuse disease, renal crisis Slide 14 – Diagnosis Clinical examination Raynaud phenomenon Skin thickening Nailfold capillary abnormalities Autoantibodies Internal-organ assessment 2013 ACR/EULAR classification criteria Slide 15 – Treatment Raynaud: Calcium-channel blockers GERD: Proton-pump inhibitors Skin disease: Immunosuppressive therapy when indicated ILD: Mycophenolate/other specialist-directed therapy Pulmonary hypertension: Pulmonary vasodilat