Scleroderma

Question 1

What is the F:M ratio?

Answer 1

3:1

Question 2

What age range is the peak incidence?

Answer 2

30-50

Question 3

Briefly outline Ssc’s pathogenesis

Answer 3

Initial endothelial cell damage - release of cytokines (ET-1)
causing vasoconstriction. Activation of adhesion molecules (e-selectin, VCAM, ICAM-1) and increased T/B cells, neutrophils and monocytes through leaky endothelium into ECM. Stimulates proliferation of vascular and connective tissue especially fibroblasts.
RESULT = uncontrolled and irreversible proliferation of connective tissue and thickening of vascular walls (and narrowing of vascular lumen).

Question 4

What observations differentiates the two types of scleroderma?

Answer 4

Distribution of skin thickening:
Limited cutaneous = head, forearms & hands, lower leg & feet.
Diffuse cutaneous = All over.

Question 5

Which is more common: LcSsc or DcSsc?

Answer 5

LcSsc : DcSsc

70% : 30%

Question 6

What is the first sign in 70% of patients?

Answer 6

Raynaud’s Phenomenon

Question 7

What is Raynaud’s Phenomenon?

Answer 7

Peripheral digital ischaemia due to paroxysmal vasospasm, precipitated by cold or emotion.

Question 8

LcSsc: used to be known as CREST syndrome. What does this stand for?

Answer 8

Calcinosis
Raynaud's
Esophageal involvement
Sclerodactyl
Telangiectasia

Question 9

What is calcinosis?

Answer 9

(Palpable) subcutaneous insoluble calcium deposits.

Question 10

What is sclerodactyl?

Answer 10

Localised thickening/tightening of skin on fingers or toes. Often leads to ulceration. Accompanied by atrophy of underlying skin.

Question 11

What is telangiectasia?

Answer 11

Small dilated blood vessels near surface of skin/mucous membranes. They blanch on pressure.

Question 12

What is the characteristic mouth feature?

Answer 12

Microstomia and radial furrowing.

Question 13

How does the nose change?

Answer 13

‘Beaking of the nose’

Question 14

What is the oesophageal involvement?

Answer 14

Lower oesophageal sphincter incompetence and atony; causes GORD, dysphagia.

Question 15

Which form of Ssc has early involvement of organs.

Answer 15

DcSsc

Question 16

Which 4 organs may be affected by DcSsc?

Answer 16

GI
Renal
Lung
Cardiac

Question 17

How is the GI tract affected in DcSsc?

Answer 17

LOS atony => GORD and dysphagia
Small intestine => bacterial overgrowth, malabsorption
Colon => pseudo-obstruction

Question 18

How are the kidneys involved?

Answer 18

Acute and chronic disease.

RENAL CRISIS => acute renal failure and malignant hypertension. Life-threatening.

Question 19

Treatment for renal crisis?

Answer 19

ACEi

Question 20

How are the lungs affected?

Answer 20

Fibrosis
Pulmonary vascular disease

Causes => pulmonary hypertension

Question 21

What is the Cardiac involvement?

Answer 21

Myocardial fibrosis => arrythmias and conduction disturbance, pericarditis, myocarditis.

Question 22

INVESTIGATIONS

What 3 serum antibodies are often present with DcSsc?

Answer 22

Anti-topoisomerase 1
Anti-RNA polymerase I
Anti-RNA polymerase III

Question 23

INVESTIGATIONS

What 1 serum antibodies are often present with LcSsc?

Answer 23

Anticentromere antibodies.

Question 24

INVESTIGATIONS

What 3 imaging techniques would you do and what would you expect to find?

Answer 24

1) X-ray:
Calcium deposits
Erosion and absorption of the distal phalanges.
2) CT scan
Of lungs - demonstrate fibrotic lung
3) Fluoroscopy
Barium swallow - reduces oesophageal motility

Question 25

INVESTIGATIONS

How would you demonstrate oesophageal immobility?

Answer 25

Manometry - reduction in oesophageal sphincter pressure and failure of peristalsis in distal end.

Question 26

INVESTIGATIONS

What anaemia could you see?

Answer 26

Normochromic, normocytic anaemia (with raised ESR).

Question 27

MANAGEMENT

Is there a cure?

Answer 27

No, symptomatic treatment only.

Question 28

MANAGEMENT

What is the first line drug?

Answer 28

ACEi for hypertension and prevent further kidney damage. (-pril)
e.g. ramipril

Question 29

What are the major causes of death?

Answer 29

Pulmonary fibrosis and (pulmonary hypertension.)

Question 30

How do you treat Raynaud’s phenomenon? (drugs, surgery, lifestyle)

Answer 30

Sildenafil
Sympathectomy
Keep warm (gloves etc.)
Stop smoking

Question 31

how does Sildenafil (treatment for Raynaud’s) work?

Answer 31

It is a phosphodiesterase type 5 inhibitor, whic increased the concentration of cGMP causing arterial wall relaxation and increased blood flow.

Question 32

What is the 10 year survival?

Answer 32

90%

Less if major organs involved

Question 33

What may happen to the length of the distal phalanges?

Answer 33

Shorten in length.

Question 34

INVESTIGATION

What is the test for Raynaud’s?

Answer 34

Extended rewarming period after cold immersion (normally around 5 mins)

Question 35

INVESTIGATION

How would you investigate lung fibrosis?

Answer 35

Crackles at base. Dyspnea.

Question 36

How would pulmonary arterial hypertension present?

Answer 36

Raised JVP
Ankle oedema
Parasternal heave
Tricuspid regurgitation murmur

Question 37

What psychological problems are associated?

Answer 37

Depression.

Question 38

DcSsc causes pulmonary arterial hypertension or pulmonary hypertension?

Answer 38

PH
(Progressive lung scarring to lead to loss of microvasculature in the lung again leading to elevated lung blood pressure.)

Question 39

LcSsc causes pulmonary arterial hypertension or pulmonary hypertension?

Answer 39

PAH

Progressive blood vessel narrowing in the lungs frequently in the absence of lung scarring and inflammation.