239. Scleroderma

Question 1

Epidemiology and Quantitive measurement of Scleroderma

Answer 1

F>M, women post-childbearing years
Orphan disease
Rodnan Skin Score: Semi-quantitative measure of extent of skin induration (fibrosis) in 17 body locations (max score 50)

Question 2

What are the two subsets of SSc (list)

Answer 2

1. Limited Cutaneous SSc

2. Diffuse Cutaneous SSc

Question 3

Phenotype of Limited Cutaneous SSc (antibody, prognosis, progression)

Answer 3

CREST
C- calcinosis cutis of skin
R - raynaud’s in fingers - can lead to digital ischemic ulcers
E - esophageal involvement (GERD, Barrett’s)
S - sclerodactyly (tightening of fingers in skin)
T - telangiectasia (oral mucocutaneous)

anti-centromere
better prognosis, longer survival, slower progression

Question 4

Phenotype of Diffuse Cutaneous SSc

antibody, prognosis, progression

Answer 4

Skin induration, truncal involvement
Pulm - ILD
Cardiac - Diastolic Dysfx, Cardiomyopathy, Arrythmia
Renal - scleroderma renal crisis
MSK - joint contractures, tendon friction rubs, myositis

anti-topoisomerase (speckled/nucleolar ANA IF)
poor prognosis and survival, rapid progression

Question 5

What is the pathogenesis of SSc

Answer 5

Genetic Susceptibility + Environment

1. Vascular: microangiopathy (small blood vessels - raynauds, pulm HTN, renal crisis)
2. Immune: inflammation, autoimmunity
3. Fibrotic: scarring in organs (skin, pulm, heart, GI, tendons)

Question 6

Pathophysiology of SSc

Answer 6

Trigger = endothelial cell injury/apoptosis
Immune cell activation = autoantibody against self endothelial cells
High fibroblast activation/recruitment from proinflammatory cytokines = tissue fibrosis

Question 7

Autoantibodies in SSc

Answer 7

ANA >90% pts
Anti-Scl-70: predicts lung disease, bad outcome
Anti-centromere - CREST, benign course
Anti-RNA pol III - renal crisis/cancer risk
anti-fibrillarin - predicts ILD