Download Systemic Sclerosis

By Dr. Zahoor
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Systemic Sclerosis (Scleroderma) is auto
immune or connective tissue disorder
Systemic Sclerosis is called connective tissue
disease but now word Auto immune
Rheumatic disease (ARD) is used.
Why ?
Because clinical effects of ARD are not limited
to connective tissue only
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Mixed connective tissue disorders is old term,
now we call Auto Immune Rheumatic
Diseases
This term is used when there is overlap
condition, where there are clinical features of
SLE (Systemic Lupus Erythematosis), Systemic
Sclerosis, Myositis
It commonly presents with synovitis and
oedema of hands in combination of Raynaud's
phenomenon and muscle pain/weakness
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We will discuss
Systemic Sclerosis or Scleroderma
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Systemic Sclerosis is chronic, multi system
disease characterized by fibrosis and
vasculopathy of skin and visceral organs
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There are two overlapping forms:
1. Limited cutaneous Systemic Sclerosis (LcSSc)
It is limited to the skin of face, hands and feet.
Pulmonary hypertension occurs late in disease.
It is associated with CREST syndrome.
CREST (Calcinosis, Raynaud’s phenomenon, Esophageal
dysfunction, Sclerodactyly, Telangiestasias).
2. Diffuse cutaneous Systemic Sclerosis (DcSSc)
Affects more skin and there is risk of visceral organ
involvement – kidneys, heart, lungs, and GIT
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The incidence of SSC is 10/million population per
year with 3.1 female to male ratio
Peak age of SSC is 30 – 50 years
Aetiology
 Familial cases are reported, genetic factors might
be responsible
 Environmental risk factors
- Exposure to silica, dust, vinyl chloride,
trichloroethylene
- Drugs e.g. Bleomycin
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Pathology and Pathogenesis
 An early lesion is wide spread vascular
damage involving small arteries, arterioles and
capillaries
 There is endothelial damage with release of
cytokines, Endothelin 1 which causes
vasoconstriction
 Release of interleukin, platelet growth factor
increased fibroblast activity resulting in
abnormal growth of connective tissue
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Pathology and Pathogenesis (cont)
 This causes vascular damage and fibrosis
 Fibrosis occurs in skin, GIT and other internal
organs
 Damage to small blood vessels produces
ischemia
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Clinical Features
- Raynaud's Phenomenon – seen in almost 100% of cases
and can present before onset of disease by many years
Limited Cutaneous Scleroderma (LcSSc) - 70% of
the cases
 This usually starts with Raynaud’s phenomenon many
years before
 Skin involvement is limited to hands, forearm, face,
and feet
 Skin is tight over the fingers and often produces flexion
deformities of the fingers
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Systemic Sclerosis – Hands showing tight shiny
skin, flexion contractures of the fingers
(sclerodactyly)
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Scleroderma: Raynaud's Phenomenon, Cyanosis of the Hands
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Calcinosis in long standing systemic sclerosis.
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Limited Cutaneous Scleroderma (LcSSc) (cont)
 Involvement of skin of face produces “beak like
nose” and small mouth (microstomia)
 Painful digital ulcers and telangiectasia are
seen
 Digital ischemia may lead to gangrene
 GIT involvement is common
 Pulmonary hypertension develops in 21% of
people
 Pulmonary interstial disease also occurs
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Typical facial appearance in CREST syndrome
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Facial appearance in Systemic
Sclerosis - drawn pursed lips,
shiny skin over the cheeks and
forehead
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Diffuse cutaneous Systemic Sclerosis (DcSSc) –
30% of cases
 Raynaud's phenomenon
 Diffused swelling and stiffness of fingers is
rapidly followed by more extensive skin
thickening which can involve most of the body
 Later, skin becomes atrophic
 Other organs are involved with general
symptoms of lethargy, anorexia and weight
loss
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Diffuse cutaneous Systemic Sclerosis (cont)
 GIT symptoms
- Heart burn, reflux, or dysphagia due to
oesophageal involvement is almost present
- Malabsorption from bacterial over growth due
to dilatation and atony of small bowel
Pseudo obstruction is known complication
- Rarely dilatation and atony of colon
- Anal incontinence occurs in many patients
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Renal Involvement
 May be acute or chronic
 Acute hypertensive renal crisis used to be
common cause of death, but ACE inhibitors
and Dialysis and Renal transplantation has
changed this
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Lung involvement
 Lung fibrosis
 Pulmonary hypertension
Myocardial involvement
 Myocardial fibrosis occurs and causes
arrhythmias, conduction defects, pericarditis
(occasionally)
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Investigation
 Full blood count
- Normocytic, Normochromic anemia
- Microangiopathic haemolytic anemia in some
people
 Urea and electrolyte rise in acute kidney injury
- Urine microscopy, proteinurea,
urine/creatinine ratio should be measured
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Investigations
 Antibodies
a- Anti centromere anti bodies (ACAs) occur in 70%
of cases in LcSSc
b- Anti topoisomerase-1 (called Anti-ScL-70) in 30%
of cases in DcSSc
and Anti RNA Polymerase is associated with
pulmonary fibrosis
c- ANA is positive in 95%
d- Rheumatoid factor is positive in 30%
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Imaging
 CXR – to see cardiac size and lung disease
 High resolution CT – to demonstrate fibrotic
lung involvement
 X-ray hands – look for deposits of calcium
around fingers, in severe cases erosion and
absorption of tufts of distal phalanges
 Barium swallow
- impaired oesophageal motility
- upper GI endoscopy
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Treatment
 Currently there is no cure
 Treatment should be symptametic – organ
based
 Corticosteroids and Immuno suppressants are
rarely used except SSC related pulmonary
fibrosis
 Counseling and family support are essential
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Treatment (cont)
 Regular exercises and skin lubricants may limit
contractures
 Raynaud’s – oral vasodilators (calcium channel
blockers, ACE inhibitors)
 Esophageal symptoms are improved by proton
pump inhibitors
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Treatment (cont)
 Malabsorption symptoms require nutritional
supplements and anti biotic to treat small
intestinal bacterial over growth
 Renal involvement – control of hypertension,
first drug of choice is ACE inhibitors
 Pulmonary hypertension is treated with oral
vasodilator, oxygen, and warfarin
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Treatment (cont)
 Pulmonary fibrosis is currently treated with
Immuno suppression, cyclophosphamide or
Azathioprine combined with low dose oral
predinisolone
 Prognosis – Patient with limited cutaneous
scleroderma have good prognosis 70% survive
for 10 years .
 Patient with diffuse cutaneous scleroderma
have 10 year survival of 55%. Death most often
from pulmonary, heart or kidney involvement.
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