Investigations

Scleroderma is difficult to diagnose, as it can overlap with, or resemble other conditions.

Diagnosis is based largely on the history and examination findings. With limited cutaneous systemic sclerosis, there is longstanding Raynaud’s phenomenon before any skin changes but with diffuse cutaneous systemic sclerosis, the onset of disease is often sudden. Also the skin involvement is distal (beyond) the elbow or knee in limited cutaneous systemic sclerosis but affects the trunk, above elbow and knee in diffuse cutaneous systemic sclerosis.

However, there are a number of diagnostic tests that may be made if scleroderma is suspected. These are:

1. Blood Tests

• Anti-nuclear antibodies ( 97% are positive for these)
• Presence of antibodies to topoisomerase 1 [which is associated with the diffuse cutaneous systemic sclerosis] and antibodies to centromere (a part of a chromosome), which is associated with limited cutaneous systemic sclerosis.
• Full blood count to check whether the patient is anaemic.

2. Urea and electrolytes

3. Urine – both microscopy and 24-hour urine for creatinine clearance and protein.

4. Chest X-Ray, CT scan - to demonstrate the appearance of the lungs, lung

tissue (fibrotic lung disease), and heart size. Pulmonary function tests.

5. X-Ray of Hands – to demonstrate calcium deposits around the fingers, distortion of the fingers and erosion of the bones.

6. Endoscopy, oesophageal manometry and barium Swallow – in the case of severe oesophageal symptoms

7. Other Investigations as appropriate, (depending on the systems involved):

• Endoscopy (of oesophagus)
• Barium meal (stomach)
• Barium follow- through, plain abdominal X-Ray (small bowel)
• Plain abdominal X-ray, barium enema (large bowel)
• ECG and Exercise Stress Test (cardiac arrhythmias, conduction defects of the heart)
• Echocardiogram (pericardial involvement)
• ECG, echocardiogram, cardiac enzymes (myocardial involvement)
• Nailfold capillaroscopy

Amended November 2008