Scleroderma

Renal Crisis

Associations

Treatment

End-organ manifestations

Treatment

Localized scleroderma

Systemic Sclerosis

Limited (lcSSc)

Diffuse (dcSSc)

CREST

Autoantibodies

Autoantibodies

Clinical Features

What is scleroderma?

Abnormal collagen deposition, tissue fibrosis, and microvascular change involving almost all organ systems.

Classic changes in skin

Fibrosis can occur in any tissue

Epidemiology

10:1 female:male

Equal across races. Worst prog in AAs.

Onset 30-50 y.o.

Less common in children, elderly

Possible environmental link: vinyl chloride, silica

Clinical Features

No systemic involvement

Sclerodactyly

Raynaud's (precedes for years)

Esophageal dynfunction

Calcinosis

Telangectasias

Sclerodactyly

Distal to elbows, knees

Face

Sclerodactyly

All over, including face, chest, abdomen, proximal skin

Anti-DNA topoisomerase I: anti-Scl-70

Anti-centromere

Skin disease

Inflammatory/puffy --> fibrosis --> atrophy/softening

95% pts

No good treatment

Raynaud's

Secondary, severe

95% pts

Limited cutaneous pts onset before visceral involvement (10-20 yrs)

Diffuse cutaneous pts onset ~time of visceral disease

Nailfold capillary microscopy + (+)scleroderma-specific auto-ab is best predictor that Raynaud's is secondary.

Sequelae

Digital ulcerations

Digital pits

Ischemia

Gangrene/digit loss

Bone loss

Vascular abnormalities

Loss collateral circulation

GI

75% pts

Esophagus

Most common (80%)

Dysmotility, lower 2/3: Lower esophageal sphincter, Stricture, Telangiectasia

Stomach

GAVE

SI

SIBO

Lungs

40% pts

Leading cause of death

ILD (80% postmortem exam): NSIP, UIP, Bibasilar pulm fibrosis

dcSSc

Cardiac

Pulm arterial HTN (lcSSc)

Telangiectasias

Pleural effusion

Aspiration pneumonia

BOOP

ILD: mycophenolate/cyclophosphamide. Pred? Lung tx. #

Pulm Arterial HTN: monitor PFTs from drop in DLCO. Drugs = bosentan, sildenafil, epoprostenol, treprostinil. #

Under-recognized

Conduction defects

L/R ventricular dysfunction

Pericardial: Pericardial effusion (can be large, exudative, risky for renal disease/crisis). Pericarditis is rare.

Previously great cause of mortality

dcSSc: 15% pts w/in 1st 3 yrs

Early diffuse disease

(+) RNA pol III ab

Prednisone use >20 mg avoid high-dose steroids in scleroderma

Symptoms

New onset HTN

Renal insufficiency/failure (active sediment, proteinuria)

Microangiopathic anemia

Thrombocytopenia

ACE INHIBITOR

Improves 1 yr survival from 10% to over 80%

Other meds to help w/ HTN

NEVER STOP THE ACE INHIBITOR.

MSK

Tendon friction rubs

Joint contractures

Arthritis/Arthralgias

Myopathy

LABS: support clinical dx

(+) ANA [nucleolar]

Anti-centromere (esp lcSSc)

(+) Scl-70 (esp dcSSc)

RNA polymerase III (esp dcSSc)

Incr incidence of PAH

Anti-RNA polymerase III

Raynaud's ~simultaneous

Incr incidence of ILD

Risk of renal crisis

Circumscribed plaques of skin on trunk, face, extremities. Waxy/shiny. Thickened. May be diffuse.

(+)ANA (50%) (+)RF (30%)

Morphea vs Linear

Eosinophilic Fasciitis

Acute onset

Affects

Skin thickening, spares hands/fingers/face. Groove sign.

No systemic symps, Raynaud's, nailfold capillary changes.

Labs

Eosinophilia

Hypergammaglobulinemia

(-) ANA

Path: Deep biopsy to include fascia

Treatment:

Prednizone (high dose, be sure it's not Scleroderma or else might precip renal crisis)

Hydroxychloroquine (Plaquenil)

MTX

Mixed Connective Tissue Disease

Features of SLE, scleroderma, PM/DM

Labs

(+) Anti-RNP abs

Common features

(+) ANA - HIGH TITER

Arthritis

Raynaud's

Inflammatory muscle disease

Sclerodactyly

Treatment

Pharmacological

ABX for gangrene

Bosentan to prev ulcerations

Phosphodiesterase inhibitors (viagra/revatio)

Topical nitrates to web spaces

Ca channel blockers (amlodipine)

Cold protection/avoidance