What are the key history and systemic findings in a case of systemic sclerosis?

Key History and Systemic Findings in Systemic Sclerosis

A comprehensive assessment of systemic sclerosis (SSc) requires thorough evaluation of multiple organ systems, with particular attention to skin involvement, vascular manifestations, and internal organ complications that significantly impact morbidity and mortality.

Disease Classification and Initial Presentation

• SSc is characterized by extent of skin involvement: limited cutaneous SSc (lcSSc) involves skin distal to elbows/knees, while diffuse cutaneous SSc (dcSSc) involves both distal and proximal areas including the trunk 1
• Some patients (1.5-8%) present with SSc sine scleroderma, lacking definite skin involvement but developing major internal organ complications 1
• "Prescleroderma" may present with isolated Raynaud phenomenon, puffy fingers, specific autoantibodies, or SSc-associated capillaroscopic changes 1

Vascular Manifestations

• Nearly all patients (>95%) present with Raynaud phenomenon 1
• Digital ulcers affect approximately 50% of SSc patients 1
• Nailfold capillaroscopy shows characteristic microvascular alterations in early disease 2

Skin Findings

• Modified Rodnan skin score (mRSS) measures skin thickness on a scale of 0-3 at 17 anatomical sites (score range 0-51) 1
• In dcSSc, skin thickening typically increases over the first 4 years of disease and may regress somewhat thereafter 1
• Severe skin involvement (mRSS >40) occurs in about 24% of patients with diffuse scleroderma, with 70% developing this within the first 3 years of disease 3

Pulmonary Manifestations

• Interstitial lung disease (ILD) is common (40-75% based on lung function changes) but progressive in 15-18% of patients 1
• Screening for ILD includes history, physical examination, chest radiography, pulmonary function testing, and high-resolution CT when appropriate 1
• Patients positive for anti-topoisomerase 1 (Scl-70) antibodies have higher frequency of ILD 1
• Pulmonary arterial hypertension (PAH) risk increases with longer disease duration, older age, and/or low diffusing capacity 1

Renal Involvement

• Scleroderma renal crisis (SRC) occurs predominantly in early dcSSc 1
• Patients positive for anti-RNA polymerase III antibodies (anti-RNAPIII) are at high risk for SRC 1
• Risk factors for SRC include male sex, tendon friction rubs, rapidly progressive skin involvement, and glucocorticoid use 1

Gastrointestinal Involvement

• Gastrointestinal involvement affects nearly 90% of SSc patients 1
• The esophagus is most commonly involved, followed by small bowel, colon, and anorectum 1
• Severe GI involvement (8% of cases) can lead to malabsorption, repeated episodes of pseudoobstruction, or problems requiring hyperalimentation 1, 3
• Malnutrition is the leading cause of mortality attributed to GI tract involvement 1

Cardiac Manifestations

• Cardiac involvement includes cardiomyopathy, symptomatic pericarditis, or arrhythmias requiring treatment 3
• Screen for cardiac involvement if arrhythmias and/or heart failure are present 1

Musculoskeletal Findings

• Inflammatory arthritis occurs in approximately 15% of SSc patients 1
• Myositis or myopathy affects about 15% of patients 1
• Tendon friction rubs may indicate more aggressive disease 1

Overlap Syndromes

• SSc can overlap with other connective tissue diseases including SLE, dermatomyositis, polymyositis, and Sjögren syndrome 1
• 3% of SSc cases overlap with rheumatoid arthritis 1
• Primary biliary cholangitis occurs in 8% of lcSSc cases, usually in anti-centromere antibody positive patients 1

Laboratory Findings

• Autoantibody profile is crucial for risk stratification and prognosis 1
• Key antibodies include anti-topoisomerase 1 (Scl-70), anti-centromere, and anti-RNA polymerase III 1
• For overlap syndromes, test for extractable nuclear antibodies (RNP, SSA/Ro, SSB/La, Smith, Jo1, PM/Scl-70) 1

Malignancy Association

• Screen for malignancy if patient has rapidly progressive dcSSc with weight loss, especially in elderly patients 1
• Anti-RNAPIII positivity increases malignancy risk 1
• Other associations with malignancy include ILD, cyclophosphamide use, and autologous hematopoietic stem cell transplantation 1

Disease Timing and Prognosis

• Severe organ involvement most often occurs early in disease course, particularly within the first 3 years 3
• Severe skin and kidney involvement occur within the first 3 years in 70% of affected patients 3
• Severe heart, lung, and GI tract involvement develop during the first 3 years in 45-55% of affected patients 3
• 9-year cumulative survival rate is only 38% for patients with severe organ involvement, compared to 72% in those without 3

Additional Health Considerations

• Screen for depression, which is elevated in SSc patients 1
• Osteoporosis risk is increased; consider bone density scanning 1
• Erectile dysfunction is frequent in men with SSc 1
• Assess cardiovascular risk factors including hypertension, diabetes mellitus, hyperlipidemia, and metabolic syndrome 1