Transcript Systemic sclerosis (SSc)

Systemic sclerosis
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definition
Systemic sclerosis (previously called O
'scleroderma') is a generalized disorder of
connective tissue affecting the skin, internal
organs and vasculature. The clinical
hallmark is the presence of sclerodactyly in
combination with Raynaud's phenomenon or
digital ischemia. The peak age of onset is in
the fourth and fifth decades, and overall
prevalence is 10-20 per 100 000 with a 4:1
female: male ratio
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Scleroderma –, Raynaud’s phenomenon , esophageal
dysmotility , sclerodactyly and telangiectasia
Etiological factors
Environmental factors:increased frequency in coal & gold minors.
induced scleroderma like syndrome ; exposure to polyvinyl
chloride, bleomycine therapy & silicone breast implants.
scleroderma like lesions in GVHD.
Genetic factors:
.High risk in 1st degree relative.
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pathology
Early in the disease there is skin infiltration by O
T lymphocytes and abnormal fibroblast
activation that leads to increased production of
extracellular matrix in the dermis, primarily
type I collagen. This results in symmetrical
thickening, tightening and induration of the
skin (sclerodactyly). There is arteriolar
narrowing due to intimal proliferation and
vessel wall inflammation. Endothelial injury
causes release of vasoconstrictors and platelet
activation, resulting in ischemia.
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The initial phase of skin disease is O
characterised by non-pitting oedema of the
fingers and flexor tendon sheaths.
Subsequently, the skin becomes shiny and taut,
and distal skin creases disappear. There is
usually erythema and tortuous dilatation of
capillary loops in the nail-fold bed, readily
visible with an ophthalmoscope set to +20.
The face and neck are usually involved next,
with thinning of the lips and radial furrowing.
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Scleroderma: edematous
changes, hands
Copyright © 1972-2004 American College of Rheumatology Slide Collection. All rights reserved.
Systemic sclerosis
 Fibrotic contractures .
 Acrolysis of the distal
phalanges .
 Pigmentation .
 Spots of depigmentation .
Skin involvement restricted to sites distal to O
the elbow or knee (apart from the face) is
classified as 'limited cutaneous disease'
or CREST syndrome … Involvement proximal
to the knee and elbow and on the trunk is
classified as 'diffuse cutaneous disease'.
fingertips.
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Scleroderma
Head and Neck Manifestations
 tight skin, thin lips, vertical
perioral furrows
O dermal
and
subcutaneous
inflammatory process
O edema preceeds epidermal atrophy,
loss of appendages
Scleroderma
Head and Neck
Manifestations
decreased mouth
opening
Peaked nose
Tight neck bands
Scleroderma:
facial changes
marked
telangiectasia
Scleroderma: Raynaud’s
phenomenon, blanching of hands
Copyright © 1972-2004 American College of Rheumatology Slide Collection. All rights reserved.
Musculoskeletal features
Arthralgia, morning stiffness and flexor O
tenosynovitis are common. Restricted hand
function is due to skin rather than joint disease
and erosive arthropathy is uncommon. Muscle
weakness and wasting are usually due to
myositis.
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Gastrointestinal features
Gut involvement is common. Smooth muscle O
atrophy and fibrosis in the lower two-thirds
of the oesophagus lead to acid reflux with
erosive oesophagitis. Since this may progress
to further fibrosis, adequate treatment of reflux
(usually with proton pump inhibitors) is
important. Dysphagia and odynophagia
(painful dysphagia) may also occur
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Cardiorespiratory features
Pulmonary involvement is a major cause of O
morbidity and mortality. Fibrosing alveolitis
mainly affects patients with diffuse disease,
particularly those with antibodies to
topoisomerase 1. Pulmonary hypertension is a
complication of long-standing disease and is
six times more prevalent in limited than in
diffuse disease.
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Renal features
One of the main causes of death is O
hypertensive renal crisis characterized by
rapidly developing malignant hypertension
and renal failure. Treatment is by angiotensinconverting enzyme (ACE) inhibition even if
renal impairment is present. Hypertensive
renal crisis is much more likely to occur in
patients with diffuse rather than limited
disease
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Scleroderma: acrosclerosis
Copyright © 1972-2004 American College of Rheumatology Slide Collection. All rights reserved.
CREST syndrome: calcinosis
cutis, fingers
Scleroderma: calcinosis and
acrolysis (radiograph)
Laboratory findings -1O Raised inflammatory markers.
O Anemia:
 of chronic illness.
 Microangiopathic hemolytic anemia
(hemolysis is caused by factors in the small
blood vessels) .
 malabsorption.
O Complication related e.g. renal failure findings
and restrictive lung function tests.
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Laboratory findings -2O Autoantibodies
 Anticentromere Abs:40-80% of cases with limited SSc
or CREST. Rare (2-5%) in diffuse SSc & in other
connective tissue disorders.
 Antitopoisomerase
1 Abs: about 40% of cases of
diffuse SSc specially with visceral involvement. Rare in
other disorders.
 Antinucleolar Abs :near 20-30% of SSc. High
speceficity.
 ANA in up to 90% of patients (poor specificity) .
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prognosis
O 5-years survival is about 70%.
O Bad prognostic features include:
-diffuse cutaneous form.
-onset at an older age.
-male gender.
-renal involvement.
-pulmonary hypertension.
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Management
Five-year survival is approximately 70%. Risk factors at O
presentation that associate with a poor prognosis include older
age, diffuse skin disease, proteinuria, high ESR, a low gas
transfer factor for carbon monoxide (TLCO) and pulmonary
hypertension. Self-management to maintain core body
temperature and avoid peripheral cold exposure is important.
Infection of ulcerated skin should be treated with prompt
antibiotic therapy. Antibiotics penetrate poorly into the skin
lesions of systemic sclerosis and therefore need to be given at
higher dose for longer periods (e.g. flucloxacillin 500 mg 6hourly for 14 days).
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Calcium antagonists (e.g. nifedipine, O
amlodipine) or angiotensin II receptor
antagonists (e.g. valsartan) may be effective
for Raynaud's symptoms. For severe digital
ischaemia, intermittent infusions of
epoprostenol may be helpful. Corticosteroids
and cytotoxic drugs are indicated in patients
with myositis or alveolitis. No agent has been
shown to arrest or improve skin changes
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Thank you
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