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