What are the initial steps in a scleroderma (Systemic Sclerosis) workup?

Scleroderma (Systemic Sclerosis) Workup

All patients with suspected systemic sclerosis should be referred to a specialized rheumatology center for comprehensive evaluation that includes classification of disease subtype, autoantibody profiling, and systematic screening for life-threatening organ involvement—particularly interstitial lung disease, pulmonary arterial hypertension, and scleroderma renal crisis. 1

Initial Clinical Assessment

Disease Classification and Duration

• Determine disease subtype by assessing extent of skin involvement: limited cutaneous SSc (lcSSc) affects skin distal to elbows/knees only, while diffuse cutaneous SSc (dcSSc) involves proximal and truncal areas 1, 2
• Establish disease duration from first non-Raynaud phenomenon symptom, as severe organ involvement occurs within the first 3 years in 70% of kidney cases and 45-55% of heart, lung, and GI cases 3
• Measure modified Rodnan skin score (mRSS) at 17 anatomical sites (0-3 scale each, range 0-51) to quantify skin thickness 1, 2

Vascular Manifestations

• Document presence of Raynaud phenomenon (present in >95% of patients) 2
• Examine for digital ulcers (affects 50% of patients) and assess for tendon friction rubs, which indicate aggressive disease 1, 2
• Perform nailfold capillaroscopy to distinguish primary from secondary Raynaud phenomenon and detect early SSc 4

Mandatory Autoantibody Testing

Obtain complete autoantibody profile as this is fundamental for risk stratification and prognosis 2, 4:

• Anti-topoisomerase 1 (Scl-70): predicts higher frequency of ILD 1, 2
• Anti-centromere antibodies: associated with lcSSc and 8% risk of primary biliary cholangitis 1, 2
• Anti-RNA polymerase III: identifies high risk for scleroderma renal crisis and malignancy 1, 2
• Extractable nuclear antibodies panel (RNP, SSA/Ro, SSB/La, Smith, Jo1, PM/Scl-70) to identify overlap syndromes 1, 2

Systematic Organ Screening

Pulmonary Evaluation (Critical Priority)

Screen all patients for ILD and PAH at diagnosis, as these are leading causes of mortality 1:

For ILD screening:

• Pulmonary function testing with diffusing capacity 1, 2
• High-resolution CT of the chest (especially in dcSSc, anti-Scl-70 positive patients, or unexplained dyspnea) 1, 2
• Chest radiography 1

For PAH screening:

• Echocardiography 1
• Pulmonary function testing with particular attention to low diffusing capacity 1, 2
• NT-proBNP level 1
• 6-minute walking distance 1
• Electrocardiography 1
• Enrich high-risk groups: longer disease duration, older age, low diffusing capacity 1, 2

Renal Monitoring (Especially Early dcSSc)

All patients with early dcSSc require regular blood pressure monitoring, with home monitoring strongly encouraged 1:

• Anti-RNAPIII positive patients are at highest risk 1, 2
• Additional risk factors: male sex, tendon friction rubs, rapidly progressive skin involvement, pericardial effusion, active ILD, cardiac involvement, glucocorticoid use 1, 2

Cardiac Assessment

• Screen for arrhythmias and heart failure 1, 2
• Echocardiography (performed as part of PAH screening) 1
• Consider premature atherosclerosis but routine screening not recommended—investigate per usual care 1

Gastrointestinal Evaluation

• History and physical examination for esophageal dysmotility, malabsorption, pseudo-obstruction 1
• Screen for nutritional deficiencies if malabsorption suspected 1
• Check alkaline phosphatase in lcSSc patients with anti-centromere antibodies (8% risk of primary biliary cholangitis) 1, 2

Musculoskeletal Examination

• Complete joint examination including temporomandibular joint 1
• Assess for inflammatory arthritis (15% prevalence): if present, test for rheumatoid factor and anti-citrullinated peptide antibody (3% overlap with RA) 1, 2
• Evaluate for myositis/myopathy (15% prevalence) 1, 2

Additional Screening Considerations

Malignancy Surveillance

Screen for malignancy in patients with:

• Rapidly progressive dcSSc with weight loss, especially elderly patients 2
• Anti-RNAPIII positivity 2

Other Assessments

• Ophthalmological evaluation if facial/scalp involvement present 1
• Screen for depression (elevated in chronic disease) 1, 2
• Bone density scan if moderate suspicion of osteoporosis; consider vitamin D and calcium supplementation 1, 2
• Erectile dysfunction screening by history in men 1, 2
• Assess cardiovascular risk factors (hypertension, diabetes, hyperlipidemia, metabolic syndrome) 2

Common Pitfalls to Avoid

• Do not delay referral: Severe organ involvement occurs early (first 3 years) in most cases, and survival is markedly reduced (38% vs 72% at 9 years) without early intervention 3
• Do not use high-dose glucocorticoids in early dcSSc, as this increases scleroderma renal crisis risk 1, 2
• Do not assume stable disease after initial evaluation: Progressive ILD occurs in 15-18% despite initial findings 1, 2
• Do not overlook overlap syndromes: 15% have inflammatory arthritis, myositis, or sicca symptoms requiring additional testing 1, 2