This blog post summarises the key insights from the latest Virtual Education Session (VES) led by Dr Jessica Gordon, an expert in rheumatology specialising in systemic sclerosis (SSc). Dr Gordon is an associate attending physician in the division of Rheumatology at a hospital for special surgery, where she also serves as a professor of clinical medicine. 

This article delves into her detailed discussion, covering various diagnostic tests used in SSc and their clinical implications. 

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Diagnostic Testing in Systemic Sclerosis

Dr Jessica Gordon highlighted several essential diagnostic tests used in systemic sclerosis, emphasising their roles in diagnosis, prognosis, and disease monitoring:

  1. Clinical Examination

Clinical examination is crucial for identifying common signs of Scleroderma such as skin thickening, Raynaud’s phenomenon, telangiectasia, and internal organ involvement. This begins with a patient’s regular GP and symptoms are monitored over time to get an initial diagnosis of Scleroderma. Clinical Examination with a GP is also used after diagnosis, usually for ongoing monitoring.

In clinical practice, doctors may use the Modified Rodnan Skin Score, which assesses Scleroderma’s impact on skin thickness across 17 body areas. This tool helps monitor disease progression over time, with distinct patterns observed between diffuse and limited cutaneous Scleroderma.

2. Nail Fold Capillaroscopy

This is a specialised imaging technique used by rheumatologists and gets its name from the study of a patient’s fingers. Nail fold capillaroscopy helps visualise microvascular abnormalities, providing insight into the severity of Scleroderma and its progression. It is, therefore, usually the second diagnosis test people with Scleroderma will have.

3. Laboratory Tests

Laboratory tests are the next stage of Scleroderma testing, including complete blood count, metabolic panels, muscle enzymes, and inflammatory markers. Some of these tests will be done over and over again. This is because they are used by doctors to monitor your overall health status, detect early signs of anaemia, and assess organ function.

Some specific laboratory tests you can expect to have done include:

  • Complete Blood Count (CBC) and Metabolic Panels

Doctors will test to check that your white blood cell count and platelets are normal potentially every three months. This is to ensure that no medical therapies or medications you are taking are impacting your internal health. 

  • Muscle Enzymes (e.g., creatine kinase) 

Muscle enzyme tests measure muscle inflammation, a common complication of Scleroderma. In this test, doctors use specific reactive proteins as inflammatory markers, making this test very effective in screening for pulmonary hypertension.

  • Autoantibodies

Specific markers like anti-Scl-70, anti-centromere, and anti-RNA polymerase III aid in diagnosis and predict further Scleroderma subsets and outcomes. They aren’t done often, but are a type of screening test that helps specify a diagnosis.

Each autoantibody is associated with distinct clinical manifestations. For example, ACA is linked with limited SSc and a risk of pulmonary arterial hypertension (PAH), whereas anti-Scl-70 is associated with diffuse SSc and pulmonary fibrosis.

4. ANA (Antinuclear Antibody) Test

ANA tests is another type of blood test that screens for autoimmune activity and helps identify patients who may require further evaluation for Scleroderma. This test comes back positive for 95% of Scleroderma patients. In this test, blood is drawn and separated into protein-filled serum and blood cells by a big centrifusion. The serum is incubated and then studied underneath a microscope, where different patterns indicate specific autoimmune conditions.  

5. Advanced Diagnostic Technologies

Emerging technologies, such as immunofluorescence and automated testing methods, are becoming more common in the Scleroderma diagnosis field, enhancing diagnosis specificity and accuracy. This is a great outcome that we can all look forward to!

Each one of these tests play a crucial role in the confirmation of Scleroderma, progression prediction and treatment monitoring, and are highly advocated for by Dr Gordon, along with individualised treatment plans.

Diagnostic and Prognostic Implications

Early detection through specific tests enhances prognosis for further complications. Some common testing pathways include:

  • Pulmonary Function Tests (PFTs) and High-Resolution CT of the Chest 

These tests are crucial for monitoring lung function and detecting interstitial lung disease (ILD). In the PFTs, doctors look for pulmonary hypertension, which is high blood pressure in the blood vessels that lead to the lungs. In the CT scans, detailed images are used to assess ILD progression.

Dr Gordon also clarified the interpretation of CT scans in diagnosing ILD, distinguishing between active inflammation (ground glass opacities) and scarring (fibrosis or honeycombing). She further noted that scarring patterns can result from conditions beyond Scleroderma, such as pneumonia or tuberculosis, requiring radiologist expertise to differentiate.

  • Renal Function Tests

Renal function test monitor for renal crisis, which is characterised by sudden severe hypertension and kidney impairment. This complication is more common during the onset of Scleroderma, so within the first three years, hence why it could be another test associated with Scleroderma diagnosis tests.

If a doctor suspects you have some form of renal dysfunction, you may be asked to monitor factors like your blood pressure three times a week.

For patients experiencing renal crisis, Dr Gordon also stressed the lifelong necessity of ACE inhibitors to prevent recurrence. Adjustments in dosage over time may be required, but discontinuation risks repeat episodes, underscoring the medication’s crucial role in long-term management.

Diagnosis Limitations

Regarding diagnostic challenges, Dr Gordon explained the dual role of ferritin as both an iron marker and an inflammatory indicator. Patients with rheumatoid arthritis may exhibit artificially raised ferritin levels due to inflammation, complicating interpretation for clinicians.

Treatment Approaches: Methotrexate vs. Mycophenolate

In treatment discussions, Dr Gordon shared her preference of mycophenolate for interstitial lung disease due to its efficacy and safer side effect profile compared to cyclophosphamide. She contrasted this with methotrexate, which is more suitable for arthritis-related symptoms but less studied for lung disease in Scleroderma patients.

Remember, suggested management by doctors will be tailored to your specific autoantibody profiles and other individual factors, hence why extensive testing, and open communication with your doctors, is so important.

Collaborative Care and Communication

Finally, Dr Gordon underscored the significance of collaborative care involving cardiologists, pulmonologists, and dermatologists for comprehensive Scleroderma management. She emphasised frequent communication among specialists and patients, ensuring timely interventions and coordinated treatment plans.

Dr Jessica Gordon’s insights provide a comprehensive overview of Scleroderma management, highlighting the complexity of diagnosis, treatment decisions, and ongoing patient support. Her approach combines clinical expertise with personalised care, aiming to optimise outcomes for individuals living with Scleroderma.

We all know living with Scleroderma presents unique challenges, but being part of a supportive community can provide invaluable resources, understanding, and encouragement. By sharing experiences, insights, and resources, we can empower ourselves, others, and medical researchers to better navigate the journey of living with this autoimmune condition.

For those living with Scleroderma, staying updated and informed can make a world of difference. Connecting with others can also be hugely beneficial. Find out more about support in your area here. 

If you’d like to gain firsthand knowledge, our National Education Sessions and Virtual Education Sessions are available to you at no charge. Our Virtual Education Sessions are held every month through Google Meet. You can sign up for these free Virtual Education Sessions here.

These sessions provide an opportunity to engage with medical professionals and seasoned legal experts who will address common inquiries about Scleroderma and related topics.