Systemic Sclerosis - Scleroderma (CREST)

Question 1

What is scleroderma?

Answer 1

A multi-system disease characterised by skin hardening and Raynaud’s phenomenon.

Question 2

How is systemic scleroderma different from localised scleroderma?

Answer 2

Distinct from localised scleroderma such as morphea, that do not involve internal organ disease and are rarely associated with vasospasm (Raynaud’s
phenomenon)

Question 3

Explain the pathophysiology behind systemic sclerosis.

Answer 3

1. Autoimmune dysfunction causes overproduction of collagen.
2. T cells accumulate in skin and secrete cytokines, which stimulate collagen deposition (skin hardening) and stimulate fibroblasts.
3. Also inflammation & auto-antibody production.

Scleroderma (skin fibrosis) + vascular disease.

Question 4

What are the 2 types of systemic scleroderma? Which one is more common?

Answer 4

1. Limited cutaneous scleroderma (LcSSc)/CREST SYNDROME - 70% cases
2. Diffuse cutaneous scleroderma (DcSSc) - 30% cases

Question 5

What parts of the body is skin involvement limited to in LcSSc?

Answer 5

Hands, feet and face

Question 6

What parts of the body are affected by diffuse systemic sclerosis?

Answer 6

Diffuse skin involvement.
Heart, lungs, GI tract and kidneys all involved.

Question 7

What feature is present in almost 100% of cases of systemic scleroderma?

Answer 7

Raynaud’s phenomenon

Question 8

Give 5 signs of limited scleroderma.

Answer 8

1. Calcinosis.
2. Raynaud’s phenomenon.
3. Oesophageal reflux.
4. Sclerodactyly (thickening and tightening of the skin).
5. Telangectasia (visible small red blood vessels - ‘spider veins’)
6. Pulmonary arterial hypertension.

Question 9

Give 4 signs of diffuse scleroderma.

Answer 9

1. Proximal scleroderma.
2. Pulmonary fibrosis.
3. Bowel involvement.
4. Myositis.
5. Renal crisis.

Question 10

Outline the investigations done in systemic sclerosis (scleroderma).

Answer 10

1. Bloods - Normochromic, normocytic anaemia
2. Bloods- autoantibodies
3. Urinalysis
4. Imaging - CXR, Hands X-ray, Barium swallow, high-resolution CT

Question 11

What autoantibodies might you find on investigation of a patient with systemic sclerosis?

Answer 11

ANA, RhF, ACA, anti-topoisomerase, anti-RNA polymerase

Autoantibodies:
- Limited cutaneous scleroderma/CREST:
* Speckled, Nucleolar or ANTI-CENTROMERE ANTIBODIES (ACAs) - 70% cases

• Diffuse cutaneous scleroderma:
• Anti-topoisomerase-1 antibodies (anti-Scl-70) - 30% cases
• Anti-RNA polymerase - 20-25% cases
• Rheumatoid factor is positive in 30%
• Anti-nuclear antibodies (ANA) is positive in 95%

Question 12

Describe the management of systemic sclerosis (scleroderma).

Answer 12

1. Raynaud’s
   * Hand warmers
   * Oral vasodilators
   - Calcium channel blocker e.g. ORAL NIFEDIPINE
   - Endothelin receptor antagonist e.g. ORAL BOSENTAN
2. GORD: PPI’s.
3. Annual Echo and pulmonary function tests to monitor arterial pulmonary pressure.
4. ACEi to prevent renal crisis.
5. Pulmonary fibrosis:
   * Immunosuppressant e.g. IV CYCLOPHOSPHAMIDE
   * ORAL PREDNISOLONE