Systemic Sclerosis

History

• Calcinosis
  • Have you noticed any unusual bumps in your skin, particularly over your fingers?
• Raynaud’s phenomenon
  • Do you notice that your hands change colour in the cold?
  • Do they become white or blue?
  • Do they become painful?
  • How is this affecting your life?
• Oesophageal dysmotility
  • Have you noticed any difficulty in swallowing?
  • Do you ever get a burning sensation in your chest, especially after you eat?
  • Do you have any diarrhoea?
  • Is your stool difficult to flush away?
  • Have you noticed any blood in your stool?
  • Have you noticed any change in the colour of your stool?
• Sclerodactyly
  • Have you noticed a change in the appearance of your fingers?
  • Do you feel that your fingers are swollen?
  • Have you noticed any wounds or ulcers on your fingers?
• Skin changes / telangiectasia
  • Have you noticed any change in the colour of your skin?
  • Have you experienced any itching of your skin?
  • Do you feel that your skin is tight?
  • Have you noticed any rashes?
• Constitutional symptoms
  • Have you lost any weight?
  • Do you feel tired all the time?
  • Have you had any fevers?
• Interstitial lung disease
  • Have you noticed any cough?
  • Do you bring up any phlegm?
  • Do you get breathless when you walk?
  • How far can you walk?
  • Can you climb stairs without feeling breathless?
• Cardiac involvement
  • Do you ever get any chest pain?
  • Have you noticed any leg swelling?
  • Do you wake up in the middle of the night feeling breathless?
  • How many pillows do you sleep on at night?
• Renal disease
  • Do you ever notice any bubbles in your urine?
  • Have you ever noticed any blood in your urine?
• General
  • Do you have any drug allergies?
  • Do you take any regular medication?
  • Have you tried anything for the pain?
  • Do you or have you ever smoked?
  • Do you drink alcohol
  • Does anything run in the family?
  • Does anyone in the family have problems with a slightly over active immune system?
  • What do you do for a living?
  • How is this affecting your life?

 Examination

• Vitals
  • Blood pressure (malignant hypertension in scleroderma renal crisis)
• General
  • Comfortable or breathless at rest
  • Skin pigment changes
  • Microstomia with restrictive mouth opening
  • Telangiectasia over face, palms, chest
• Hands
  • Sclerodactyly
  • Thick, shiny skin
  • Contractures
  • Nail dystrophy with dilated capillaries
  • Pulp atrophy
  • Digital ulceration / gangrene
  • Raynaud’s phenomenon
  • Calcinosis
• Cardiac
  • Raised jugular venous pressure
  • Right ventricular heave
  • Loud pulmonary component of second heart sound
  • Pitting oedema
• Respiratory
  • Chest expansion
  • Fine, basal end-inspiratory crepitations
• Musculoskeletal
  • Proximal myopathy
  • Functional assessment

Differential diagnosis

• Limited systemic sclerosis
• Diffuse systemic sclerosis
• Mixed connective tissue disease
• Morphea (localized scleroderma); tends to be on the trunk, spares hands and fingers
• Diabetic cheiroarthropathy
• Scleromyxoedema (associated with underlying paraprotein)
• Nephrogenic systemic fibrosis (would expect history of renal impairment and recent MRI scan)

Investigations

• Blood tests
  • Anti-nuclear antibody (positive in approximately 95% of patients)
  • Anti-centromere antibodies (limited systemic sclerosis)
  • Anti-topoisomerase antibodies (diffuse systemic sclerosis)
  • Full blood count – anaemia
  • Renal function
  • Liver function tests – primary biliary cirrhosis
• Urine protein:creatinine ratio and microscopy for haematuria
• High resolution computed tomography scan for interstitial lung disease
• Pulmonary function tests looking for restrictive pattern and reduced DLCO
• Transthoracic echocardiogram to look for evidence of pulmonary hypertension

 Management

• Multidisciplinary team approach
• Patient education on disease and prognosis
• Physiotherapy and occupational therapy to preserve and maximize function
• Treat symptoms
  • Raynaud’s: avoidance of cold, topical nitrates, calcium channel blockers, prostacyclin infusion
    • Smoking cessation leads to improvement in symptoms
  • Oesophageal dysmotility: eat frequent small meals, proton pump inhibitors, prokinetics
• Treat complications
  • Renal disease: aggressive blood pressure control, starting with ACE inhibitor
  • Congestive cardiac failure: diuresis, oxygen supplementation
• Treat underlying disease
  • Cyclophosphamide
  • Mycophenolate
  • Azathioprine
  • Avoid steroids due to risk of precipitating scleroderma renal crisis

Summary

Sir, this patient has systemic sclerosis. She presents with a history consistent with Raynaud’s phenomenon and skin tightening. On examination, there is microstomia, which is associated with reduced mouth opening. There is sclerodactyly with pulp atrophy, dystrophic nails with dilated nailbed capillaries and telangiectasia over the palms and face. The skin is tight over the hands, forearms and proximal to the elbow. In terms of complications, the patient is hypertensive, which may suggest underlying renal disease. There is a right ventricular heave to suggest pulmonary hypertension, and fine end-inspiratory crepitations on auscultation of the lungs to suggest pulmonary fibrosis. She is currently in congestive cardiac failure, as evidenced by the raised jugular venous pressure and peripheral oedema. She requires admission for further investigation and management of her heart failure.