Systemic Sclerosis

Question 1

Define Systemic sclerosis

Answer 1

Multi-systemic connective tissue autoimmune disease characterised by abnormal blood vessels, fibrosis of skin and internal organs, and auto-antibody production

Question 2

What are the two types of Systemic sclerosis

Answer 2

Limited cutaneous (CREST) (60%) - Calcinosis, Raynaud’s, oesophageal dysmotility, sclerodactyly, telangiectasia

Diffuse cutaneous (40%) - Raynaud’s -> skin changes with truncal involvement, tendon friction, joint contracture, lung, heart, GI and renal disease

Question 3

What is pre-scleroderma and scleroderma sine scleroderma

Answer 3

Pre-scleroderma - Raynaud’s, nail-fold capillary changes + ANA

Scleroderma sine scleroderma - internal organ disease, no skin changes

Question 4

Aetiology of Systemic sclerosis

Answer 4

Unknown
Genetic and environmental factors (ANA, Anti-Slc 70, RNA polymerase III, anti centromere vs exposure to silica etc.)

Loss of B cell tolerance to nuclear antigens with +ve ANA, Anti-Slc70, anti-centromere
Cytokines lead to activation of fibroblasts and development of fibrosis.

Question 5

Epidemiology of Systemic sclerosis

Answer 5

Women much more affected (5:1)
Rare in childhood, more common in young adults
Peak incidence 5th decade

Question 6

Presenting symptoms of Limited cutaneous Systemic sclerosis

Answer 6

Calcinosis: white deposits on the fingers
Raynaud’s: colour changes (white, blue, crimson)
Oesophageal dysmotility: dysphagia
Sclerodactyly
Telangiectasia: spots, visible cutaneous veins

Question 7

Presenting symptoms of diffuse cutaneous Systemic sclerosis

Answer 7

Skin changes involving the trunk
Raynaud's
Rendon friction
Early lung disease
Heart, renal, GI disease
Dysphagia + reflux

Question 8

System specific symptoms and signs for Systemic sclerosis

Answer 8

Lungs: pulmonary fibrosis -> pulmonary HTN
Heart: pericarditis, effusion
GI: dry mouth, dysphagia, reflux, N+V, anorexia
Kidney: renal crisis and failure
Neuro: trigeminal neuralgia, muscular wasting/weakness
Hypothyroidism, impotence, dyspareunia

Question 9

Signs of limited cutaneous Systemic sclerosis

Answer 9

Small white calcium deposits on the pressure points of extremities e.g. elbows, knees, fingertips
Fingers are smooth, shiny, puffy
Sclerodactyly: thickening and tightening, oedema -> fibrosis with waxy appearance
Red-blue discolouration with limited range of motion
Visible dilation of blood vessels
Microstomia (small mouth), loss of expression, no wrinkles
(Raynaud’s phenomenon)

Question 10

Investigations for Systemic sclerosis

Answer 10

American College of Rheumatology and European league against rheumatism score (based on symptoms)

Serum autoantibodies (anti-centromere, topoisomerase, nucleolar, ANA, RNA-polymerase, PM/Scl)

Urine microscopy: check for renal failure
Pulmonary function testing: interstitial lung disease, pulmonary HTN

FBC: Normal, microcytic anaemia (GI bleed), MAHA (Renal failure)
U+Es: Normal, elevated Ur + Cr (renal failure)
CRP and ESR: normal, may be elevated

CXR: Normal or evidence of interstitial lung disease (bi-basilar infiltrates, cardiomegaly, signs of RHF)

System specific (ECG, echo, endoscopy, barium, scintigraphy, EMG, nerve conduction studies, X-ray joints, skin biopsy)

Question 11

What disease is anti-centromere and anti-topoisomerase II/Anti-Scl-70 associated with

Answer 11

Anti-centromere: Limited cutaneous Systemic sclerosis

Anti-topoisomerase II/Anti-Scl-70 Diffuse cutaneous Systemic sclerosis