Systemic Sclerosis

Question 1

What is systemic sclerosis?

Answer 1

Rare connective tissue AI disease characterised by widespread small blood vessel damage + fibrosis in skin (scleroderma) + internal organs due to XS deposition of collagen

Question 2

What was systemic sclerosis also known as?

Answer 2

Scleroderma

Question 3

Describe the aetiology of systemic sclerosis

Answer 3

UNKNOWN
Genetic + environmental factors
Activated monocytes, macrophages + lymphocytes may interact with:
Endothelial cells: endothelial cell damage, platelet activation, narrowing of blood vessels
Fibroblasts: lay down collagen in the dermis

Question 4

Describe the epidemiology of systemic sclerosis

Answer 4

Age of onset: 30-60 yrs

F > M

Question 5

Describe the spectrum of diseases that fall within systemic sclerosis

Answer 5

Pre-Scleroderma
Diffuse Cutaneous Systemic Sclerosis
Limited Cutaneous Systemic Sclerosis
Scleroderma sine Scleroderma

Question 6

What characterises pre-scleroderma?

Answer 6

Raynaud’s phenomenon
Nail-fold capillary changes
ANA

Question 7

Describe Diffuse Cutaneous Systemic Sclerosis

Answer 7

diffuse skin involvement + early organ fibrosis
Anti-topoisomerase 1 antibodies in 40%
Anti-RNA polymerase in 20%
Poor prognosis

Question 8

What signs and symptoms are seen in Diffuse Cutaneous Systemic Sclerosis?

Answer 8

Raynaud’s phenomenon
Skin changes with truncal involvement
Arthralgia + myalgia, possible contracture
ILD + Pulmonary HTN
Cardiac fibrosis, myocarditis, pericarditis
Oesophageal + small bowel dysmotility
Renal disease

Question 9

Describe Limited Cutaneous Systemic Sclerosis

Answer 9

Skin involvement limited to face, hands + feet
Anti-centromere antibodies in 70-80%
AKA CREST Syndrome

Question 10

What 5 characteristic features make up CREST syndrome?

Answer 10

Calcinosis: deposition in SC tissues 
Raynaud's phenomenon 
Oesophageal + gut dysmotility 
Sclerodactyly: swollen tight digits  
Telangiectasia

Question 11

What is Scleroderma sine Scleroderma ?

Answer 11

Internal organ disease with NO skin changes

Question 12

List 7 manifestations of systemic sclerosis that may be seen in the hands. What investigation may rarely be performed to investigate these?

Answer 12

Raynaud’s phenomenon
Initially swollen doughy painful fingers
Later thickened, tight, shiny + bound to underlying structures: sclerodactyly (seen in all cases of scleroderma)
Loss of function e.g. inability to have a tight grasp
Swelling of hands + feet: morning stiffness
Changes in pigmentation
Finger ulcers
Ix: Biopsy

Question 13

Give 2 facial manifestations of systemic sclerosis

Answer 13

Microstomia (puckering of skin around mouth)

Telangiectasia

Question 14

What pulmonary manifestation may arise due to systemic sclerosis? What investigations may be performed to investigate these?

Answer 14

Pulmonary fibrosis —> pulmonary HTN, dyspnoea, dry crackles at lung bases (indicating ILD)
CXR
Pulmonary function tests
CT scan

Question 15

What antibodies should be screened for in suspected systemic sclerosis?

Answer 15

ANA (90% of all pts)
Anti-centromere (70% of CREST)
Anti-topoisomerase II (anti-Scl-70): 30% of diffuse cutaneous systemic sclerosis cases
Anti-RNA polymerase

Question 16

List 6 gastric manifestations of systemic sclerosis. What investigations may be performed to investigate these?

Answer 16

Dry mouth
Oesophageal dysmotility
Reflux oesophagitis
Gastric paresis
Bloating
Incontinence (faecal)  
Ix: endoscopy, barium studies, FBC (anaemia + ESR/CRP for inflammation)

Question 17

Give 2 renal manifestations of systemic sclerosis. What investigations may be performed to investigate these?

Answer 17

Hypertensive renal crisis
Chronic renal failure
Ix: U+Es, creatinine clearance

Question 18

List 3 neuromuscular manifestations of systemic sclerosis. What investigations may be performed to investigate these?

Answer 18

Trigeminal neuralgia
Muscular wasting
Weakness
Ix: electromyography, biopsy

Question 19

List an endocrine manifestation of systemic sclerosis

Answer 19

Hypothyroidism: TFTs