Glossary of Scleroderma lecture

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a disease manifested as inappropriate scar tissue formation (fibrosis) thorughout the entire body, including skin, arteries, kidneys, GI, lungs, and heart--significant organ dysfunction and characteristic skin changes

sclero = hard; derma = skin
prevalence from 19/100,000 to 75/100,000
male to female from 1:7 to 1:12
1. localized scleroderma
2. limited scleroderma (CREST)
3. diffuse systemic sclerosis
localized scleroderma
morphea and linear scleroderma
limted scleroderma
C= calcinosis
R= raynaud's phenomenon
E=esophageal dysmotility
S= sclerodactyly
T= telangectasias
-skin tightening of hands, distal forearm, face, and feet
diffuse systemic sclerosis
skin tightening of arm, forearm, hands, feet, and trunk
mimic scleroderma
Eosinophilic fascitis
Eosinophilic myalgia syndrome
Scleredema skin tightening (seen in Diabetes)--differentiated by deep skin and fascia biopsy
immune system dysfunction (T cells, cytokines) may either injure or stimulate the endothelium or the fibroblasts; inappropriate fibroblast activation with collagen production and deposition which disrupts normal organ architecture and function
Clinical manifestations:
Raynaud's phenomenon
change in color of peripheral tissues due to stress induced vasospasm from cold temps (or emotional stress)
white to blue to red
white: blanching caused by vasospasm
blue: cyanosis- RBC deoxygenation
red: vasodilation and new oxygenated RBC's
Persistent or recurrent ischemia
result in digital pitting ulcers, loss of digital pads (known as sclerodactyly), and gangrene and autoamputation; >90% of scleroderma patients have Raynaud's phenomenon
stages of skin involvement
earliest: edematous skin
fibrotic stage: thick hard skin
atrophic: skin is tight
-hypopigmentation, hyperpigmentation, subcutaneous calcinosis
extra-cutaneous involvement
GI, Renal, pulmonary, cardiac, musculoskeletal
entire tract potentially affected
-mouth: decreased oral aperature and purse string mouth
-esophagus: decreased LES tone leads to reflux esophagitis and stricture formation or Barrett's esophagus (premalignant); esophageal dysmotility (decreased peristalsis) of lower 1/3 of esophagus (smooth muscle portion)
GI ctd
LI: thinning of muscular walls causes wide mouth diverticulum
liver: primary biliary cirhosis is an autoimmune liver disease associtated with limited PSS
60-80% evidence of kidney involvement
50% have renal dysfnction such as mild proteuria and mild elevation of Cr and/or hypertension
-scleroderma renal crisis is a severe and life threatenting disease that occurs in 10-15% of patients and is manifested as accelerated hypertension and rapidly progressive renal failure
renal ctd
worse prognosis if:
male, old, Cr> 3 mg/dl, new anemia, RNA
in 70% of pts;
1. interstitial lung disease (fibrosing alveolitis or pulmonary fibrosis) - most common symptom is dyspnea
2. pulmonary vascular disease later leading to pulmonary hypertension- as many as 1/3 of patients are asymptomatic, but dyspnea is seen commonly
pericarditis and pericardial effusion in 40% of patients
-fibrosis can develop in myocardium (band necrosis), which contracts and disrupts conduction system
-conduction system abnormalities cause dysrrhymias and may even cause ventricular arrhythmias and sudden death
arthralgia, mild arthritis (rarely destructive), tendon friction ribs, myositis, DIP tuft absorption
lab findings
antinuclear antibodies; anticentromere antibodies in 30-50% of pts with limited variant
antitopoisomerase 1 Ab (SCL 70) in 30-40% of pts with diffuse disease
radiographic findings
GI:abnormal esophageal motility on barium swallow; stricture on barium swallow, wide mouth diverticulum
chest: basal reticulo nodular pattern and pulmonary reticular fibrosis on chest xray; HRCT with ground glass appearance and reticular pattern--active inflammation (alveolitis) or fibrosis
PET results
restrictive lung disease with reduced DLCO
inflammatory cells- lymphocytes early on, neutrophils when 50% of lung affected
nail fold capillary microscopy
loss of capillary loops with dilation of both venular and arteriolar links
treatment and management
don't know what cuases it, can't treat it
treatment of raynaud's
avoid cold, gloves; topical vasodilators (nitroglycerine), oral vasodilators (angiotensin receptor blockers and calcium channel blockers), and parenteral vasodilators: iloprost if severe; finally, surgical digital sympathectomy
affects both collagen biosynthesis and immune system; dose ranges from 125 mg every other day to 1500 mg/day
11 pts used low dose and 4 had complete resolution
GI treatment
proton pump inhibitors and H2 blockers for GERD
esophageal dilattation of strictures
dysmotility treated with metoclopramide and or erythromycin
renal treatment
ACE inhibitors- 60% 5 yr survival
pulmonary treatment
corticosteroids for interstitial lung disease; steroids have also caused renal crisis, so best when used in combo with cyclophosphamide, both IV and oral (ocassionally substitute azathioprine)
pulmonary hypertension
Epoprostenol (Iloprost)--prostacyclin analog delivered as continuous infusion via indwelling right atrial catheter and pump
-iloprost inhalation therapy
-bosentan (tracleer)--nonselevtive endothelin receptor antagonist appears to be safe and effective; viagra?!
stem cell transplant (41 pts showed improvement, but 27% mortality
solid organ transplant: lung and heart transplant if severe enough

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