What screening tests are recommended for a patient with systemic sclerosis (scleroderma)?

From the Guidelines

Patients with scleroderma should undergo comprehensive screening to monitor for complications affecting multiple organ systems, prioritizing pulmonary arterial hypertension, interstitial lung disease, scleroderma renal crisis, and other organ involvement, as outlined in the state-of-the-art evidence in the treatment of systemic sclerosis 1.

Screening Recommendations

The following screening strategies are recommended:

• Pulmonary arterial hypertension: enrich a high-risk group with longer disease duration, older age, and/or low diffusing capacity, and use various screening algorithms, including echocardiography, pulmonary function testing, electrocardiography, NT-proBNP, and 6-min walking distance 1.
• Interstitial lung disease: screen patients who are positive for anti-topoisomerase 1 (Scl-70) antibodies, especially in the dcSSc subset, and investigate unidentified dyspnoea using history, physical examination, chest radiography, pulmonary function testing, and high-resolution CT of the lungs where appropriate 1.
• Scleroderma renal crisis: screen patients with early dcSSc, particularly those positive for anti-RNAPIII, with regular blood pressure checks and home blood pressure monitoring, and consider other risk factors such as male sex, tendon friction rubs, rapidly progressive skin involvement, and use of glucocorticoids 1.
• Other organ involvement: apply the 15% rule to identify patients with prevalent digital ulcers, complicated digital ulcers, inflammatory arthritis, myositis or myopathy, sicca symptoms, or Sjögren syndrome, and investigate overlaps with other connective tissue diseases, such as rheumatoid arthritis, SLE, dermatomyositis, polymyositis, and Sjögren syndrome 1.

Additional Screening Considerations

• Cardiac involvement: screen for arrhythmias and/or heart failure 1.
• Premature atherosclerosis: investigate as per usual care, without routine screening 1.
• Nutritional deficiencies: screen if malabsorption is present or suspected due to severe gastrointestinal involvement 1.
• Depression: screen as it is elevated in patients with chronic diseases, including scleroderma 1.
• Osteoporosis: perform a bone density scan if the index of suspicion is moderate, and consider vitamin D and calcium supplementation as per local guidelines 1.
• Erectile dysfunction: screen by history and refer to urology where appropriate 1.
• Malignancy: screen if the patient has rapidly progressive dcSSc, weight loss, and is elderly and/or has other features suggesting paraneoplastic scleroderma, and follow local guidelines for screening tests, such as Pap tests, mammograms, and colon cancer screening 1.

From the Research

Screening for Patients with Scleroderma

• Screening for scleroderma is crucial to detect organ involvement early in the disease course, as it can lead to significant morbidity and mortality if left untreated 2, 3.
• Systemic sclerosis (SSc) is a complex systemic autoimmune disorder characterized by inflammation, vasculopathy, and excessive fibrosis of the skin and multiple internal organs, and is associated with significant morbidity and mortality compared to other rheumatic diseases 2.
• Patients with SSc are at risk of developing various complications, including lung fibrosis, pulmonary artery hypertension (PAH), and scleroderma renal crisis (SRC), which can be fatal if not detected and treated early 2, 4, 5, 3.
• Screening for SSc should include a comprehensive evaluation of organ involvement, including pulmonary function testing, echocardiography, and renal function tests, as well as a careful history-taking and physical examination to detect early signs of disease 5, 3.
• Patients with combined pulmonary hypertension and interstitial lung disease are at higher risk of mortality and should be closely monitored and managed to prevent complications 5.
• A comprehensive framework for navigating patient care in SSc should include regular screening, early treatment, and prevention of complications, as well as a multidisciplinary approach to care involving recognized SSc centers and local specialists 3.
• The use of biologic agents targeting collagen, cytokines, and cell surface molecules, as well as hematopoietic stem cell transplantation, may have promising therapeutic effects in SSc, but require further research and evaluation 2.