Systemic sclerosis

Question 1

Systemic sclerosis : Definition

Answer 1

• Systemic sclerosis is an autoimmune connective tissue disease involving inflammation and fibrosis (hardening or scarring) of the connective tissues, skin and internal organs.
• The cause is unclear

Question 2

Systemic sclerosis : Incidence

Answer 2

4 x more common in females

Question 3

Systemic sclerosis : Pathophysiology

Answer 3

1 . Infection causing inflammation
* Infection causes macrophages to ingest bacteria
* leading to T-helper cells being activated.
* T-helper cells release cytokines causing;

2 . Cell necrosis- leads to calcium release from cells
* Calcinosis

3 . Fibroblast proliferation
* Secrete excess collagen to repair damaged tissue
* Skin tightening

4 . Inflammation of blood vessels
* Ischaemia and vasoconstriction
* Raynaud’s : constriction of vessels supply digits in response to cold triggers
* Telangiectasus

Question 4

Systemic sclerosis : Patterns of disease

Answer 4

• Limited cutaneous systemic sclerosis
• Diffuse cutaneous systemic sclerosis : includes CREST features and also affects internal organs

Question 5

Limited cutaneous systemic sclerosis : Clinical features

Answer 5

is the more limited version of systemic sclerosis. It used to be called CREST syndrome
1. C – Calcinosis
* Calcium deposits under the skin - most commonly found on fingertips
2. R –Raynaud’s phenomenon
* First sign
3. E – oEsophageal dysmotility
* Atrophy of smooth muscle and fibrosis of oesophageal muscle
* Dysphagia, acid reflux
4. S – Sclerodactyly
* Scleroderma : hardening of skin, looks shiny and tight - mainly on hands and face
* Sclerodactyly :skin changes in hands, tightening restricts range of movement and reduces function of joint
5. T – Telangiectasia : small dilated blood vessels on the skin surface

Question 6

Limited cutaneous systemic sclerosis : Complications

Answer 6

1. Severe skin ischaemia : ulcers, gangrene
2. Upper GI bleed due to mucosal telangiectasia

Question 7

Diffuse Cutaneous Systemic Sclerosis : Clinical features

Answer 7

includes the CREST features and also affects internal organs, causing:
1 .Cardiovascular problems
* Systemic and pulmonary hypertension
(e.g., hypertension and coronary artery disease)

2 . Lung problems (e.g., pulmonary hypertension and pulmonary fibrosis)
* SOB, gradual onset of dry cough

3 . Kidney problems (e.g., glomerulonephritis and scleroderma renal crisis)

Question 8

Systemic Sclerosis : Investigations

Answer 8

Blood test :
1.ANA positive : sensitive for Systemic sclerosis
2. Anti-centromere antibodies positive - more specific to CREST syndrome, limited cutaneous systemic sclerosis
3. Anti scl-70 antibodies : specific for diffuse cutaneous systemic sclerosis

Question 9

Systemic Sclerosis : Management

Answer 9

Medical management
1. Dysphagia tx :
* PPI : Omperazzole
* Metoclopramide

2. Raynaud’s Phenomenon tx
   * First line : Nifedipine
3. Hypertension tx
   * Ace-inhibitors