Scleroderma -

Question 1

What are the early signs of scleroderma?

Answer 1

Raynaud’s
Positive ANA (1/160)
Puffy Fingers

Question 2

How is scleroderma diagnosed?

What are the tests indicative of scleroderma?

Answer 2

Clinical diagnosis ONLY

…but if you did do a skin biopsy, you would see immune factors which don’t cause the disease but are signs

ANA positivity: 90% (but also in 10% of normal popultion)
RF positivity: 30% (if negative rule out MCTD)
Anti-Centromere ab:
limited SSc 50-90%
Diffuse SSc. 10%
Ant-SCL 70 (anti- DNA topoisomerase I)
Associated with Diffuse SSc. 20-40%
Anti-RNA polymerase III
-Associated with Renal crisis in diffuse scleroderma

Question 3

What are the clinical features of scleroderma?

How does it first present?

What are the differences in features between limited and diffuse scleroderma?

What are the 3 phases of skin changes?

Answer 3

Fever is uncommon (unlike other autoimmune disease)
Limited- insidious onset for years Raynaud’s phenomenon (skin thickening usually later)
Diffuse- acute/subacute onset of skin thickening and severe Raynaud’s
Raynaud’s= Vasospastic response to cold or emotional stress.
Three phases: White, blue, and red.
In scleroderma RP is severe- result in finger’s tips ulcers and scars. In severe cases digital necrosis, tuft resorption.
RP may affect internal organs= Renal, lungs.

GI involvement - Very common (3rd)
Neuropathy-involvement of vasa nervousum
Myopathy- atrophy of smooth muscles.
Esophagus:
very low LES pressure- Reflux
Abnormal peristalsis- Dysphagia
Esophagitis, Barret’s, Strictures.

Pulmonary manifestations

Skin changes:
I: edema
II: skin thickening/fibrous phase
III: atrophic/skin thinning (10-15 years later)

Question 4

What is the leading cause of death in scleroderma?

What is the pathogenesis?

Answer 4

Pulmonary hypertension is the leading cause of death in scleroderma
2 forms:

1. Pulmonary fibrosis
   insidious onset, progressive
   shortness Of breath
   cough
   Inspiratory crackling rales.
   2nd PHT (but if not in first 5 years won’t develop later)
   Bx: diffuse fibrosis, inflammatory infiltrate of alveoli, interstitium, and peri-bronchial.
   -If seen on CXR it’s too late for treatment

Diffuse scleroderma has pulmonary fibrosis with SCL7 resulting in pulmonary hypertension

2. primary pulmonary hypertension.
   (No fibrosis)
   more common in limited pulmonary hypertension
   -Isolated pulmonary hypertension associated with anti-centromere

Question 5

What are the renal consequences of scleroderma?

Answer 5

Often triggered by steroid treatment

Avoid steroid treatment (for pulmonary fibrosis)

Associated with anti-RNA polymerase III
Accelerated HPT
High renin activity
Proteinuria, hematuria
No casts
acute renal failure / ATN
Micro-angiopathic hemolytic anemia.
biopsy : fibrinoid necrosis
Similar clinically to HIT, DIC, HUS, APLS

Treated by ACEi and then plasmapheresis and dialysis