Systemic sclerosis

Question 1

Define systemic sclerosis

Answer 1

Rare connective tissue disease characterised by widespread small blood vessel damage & fibrosis in skin & internal organs

AKA scleroderma

Question 2

Spectrum of disease in systemic sclerosis

4

Answer 2

Pre-scleroderma

Diffuse cutaneous systemic sclerosis (40%)

Limited cutaneous systemic sclerosis (60%)

Scleroderma sine scleroderma

Question 3

Spectrum of disease in systemic sclerosis - pre scleroderma

3

Answer 3

Raynaud’s phenomenon
Nail fold capillary changes
Antinuclear antibodies

Question 4

Spectrum of disease in systemic sclerosis - diffuse cutaneous systemic sclerosis
(7)

Answer 4

Raynaud’s phenomenon
Followed by skin changes w/ truncal involvement 
Tendon friction
Joint contracture
Early lung disease 
Heart, GI, renal disease
Nail fold capillary dilatation

Question 5

Spectrum of disease in systemic sclerosis - limited cutaneous systemic sclerosis
(5)

Answer 5

Previously known as CREST syndrome because of 5 characteristic features
Calcinosis
Raynaud’s phenomenon
Oesophageal dysmotility
Sclerodactyly 
Telangiectasia

Question 6

Spectrum of disease in systemic sclerosis - scleroderma sine scleroderma

Answer 6

Internal organ disease w/ NO skin changes

Question 7

Aetiology of systemic sclerosis

5

Answer 7

UNKNOWN
Genetic & environmental factors
Pathogenesis unclear
Activated monocytes, macrophages & lymphocytes may interact with:
- endothelial cells —> endothelial cell damage, platelet activation, narrowing of blood vessels
- fibroblasts —> lay down collagen in dermis

Question 8

Epidemiology of systemic sclerosis

age, gender

Answer 8

Age of onset 30-60 yrs

3x more common in FEMALES

Question 9

Presenting symptoms & signs of systemic sclerosis - skin

Answer 9

Raynaud’s phenomenon

Question 10

Presenting symptoms & signs of systemic sclerosis - hands

4

Answer 10

Initially swollen painful fingers
Later they become thickened, tight, shiny & bound to underlying structures
Changes in pigmentation
Finger ulcers

Question 11

Presenting symptoms & signs of systemic sclerosis - face

2

Answer 11

Microstomia

Telangiectasia

Question 12

Define microstomia

Answer 12

puckering of skin around the mouth

Question 13

Presenting symptoms & signs of systemic sclerosis - lung

Answer 13

Pulmonary fibrosis —> pulmonary hypertension

Question 14

Presenting symptoms & signs of systemic sclerosis - heart

4

Answer 14

Pericarditis or pericardial effusion
Myocardial fibrosis
Heart failure
Arrhythmias

Question 15

Presenting symptoms & signs of systemic sclerosis - GI

4

Answer 15

Dry mouth
Oesophageal dysmotility
Reflux oesophagitis
Gastric paresis

Question 16

Presenting symptoms & signs of systemic sclerosis - kidneys

2

Answer 16

Hypertensive renal crisis

Chronic renal failure

Question 17

Presenting symptoms & signs of systemic sclerosis - neuromuscular
(3)

Answer 17

Trigeminal neuralgia
Muscular wasting
Weakness

Question 18

Presenting symptoms & signs of systemic sclerosis - others

2

Answer 18

Hypothyroidism

Impotence

Question 19

Investigations for systemic sclerosis - autoantibodies

5

Answer 19

Anti-centromere - 70% of limited cutaneous systemic sclerosis cases

Anti-topoisomerase II (anti-Scl-70) - 30% of diffuse cutaneous systemic sclerosis cases

Antinuclear
Anti-nucleolar
Anti-RNA polymerase

Question 20

Investigations for systemic sclerosis - lung

3

Answer 20

CXR
Pulmonary function tests
CT scan

Question 21

Investigations for systemic sclerosis - heart

2

Answer 21

ECG

Echocardiography

Question 22

Investigations for systemic sclerosis - GI

2

Answer 22

Endoscopy

Barium studies

Question 23

Investigations for systemic sclerosis - kidneys

2

Answer 23

U&Es

Creatinine clearance

Question 24

Investigations for systemic sclerosis - neuromuscular

Answer 24

Electromyography

Question 25

Investigations for systemic sclerosis - joints

Answer 25

Radiography

Question 26

Investigations for systemic sclerosis - skin

Answer 26

Biopsy (rarely needed)