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Scleroderma (systemic sclerosis or SSc)

A multisystemic disease which involves the internal organs and is associated with vasospasm (Raynaud's)
It has the highest case-specific mortality of any ARD



'Localised' or 'circumcribed' scleroderma - either patches or linear
thickening and hardening of the skin due to increased collagen production -- presents in a number of syndromes linked by a lack of deeper tissue involvement -- more common in <20yrs
Does not progress and very rarely coexists although may be ANA positive


Epidemology of SSc

1/100,000 with M:F/1:3 and ethnic variations in clinical features -- rare in child, peak onset 30-50yrs
Some heritability (MZ>DM concordance) but mainly environmental


Environmental risk factors for SSc

Siliac dust
Adulterated rapeseed oil
Drugs (bleomycin)


Pathogenesis of SSc

An initial vascular lesion in small arteries, arterioles and capillaries causes vasoconstriction, increasing vascular permeability & cytokine release --> Cytokines, immune cell activation and matrix infiltration activates fibroblasts --> increase production of collagen I & III (+fibronectin & glycosaminoglycans)


Clinical presentations of SSc

Raynaud's phenomenon - >99% - may precede disease onset
Limited cutaneous scleroderma (LcSSc) -- 70%
Diffuse cutaneous scleroderma (DcSSc) -- 30%


Consequences of increased collagen production

lower dermal fibrosis & obliterative vasculopathy -- this causes ischemia leading to necrosis and secondary infections


Raynaud's phenomenon

Seen in almost all cases of SSc and precedes full disease by up to 15yrs -- excessively reduced blood flow due to cold or emotional stress, causing discoloration of the fingers or toes
Can be primary (Raynaud's disease) or secondary to an ARD


Limited cutaneous scleroderma (LcSSc)

Only affects skin on hands, feet, face and Forearms
GI involvement is common and pulmonary HTN/interstitial fibrosis develops in 10-15% -- Used to be called CREST syndrome


Autoantibodies in SSc

RF is positive in 30% of SSc
ANA is positive in 95%
LcSSc -- Anti-centromere abs occur in 70%
DcSSc -- Anti-Scl-70 abs occur in 30%, also anti-RNA polymerase I,II,III positive in 20-25% of cases


Diffuse cutaneous scleroderma (DcSSc)

Starts with oedema which rapidly develops into stiffness, sclerosis and eventually atrophy - can cover most of the body in bad cases - Raynaud's develops just before or along with oedema -- Early organ involvement occurs with lethargy, anorexia and weight loss


Hand Changes in LcSSc

Tight skin can produce flexion deformities
Painful digital ulcers can form and ischemia can lead to gangrene
Dilated nail fold capillary loops and generalised telangiectasia can also occur


Facial Changes in LcSSc

Skin changes and tightness produce a characteristic 'beak-like' nose and small mouth (microstomia)


CREST syndrome

Raynaud's phenomenon
Esophageal involvement
Now replaced with LcSSc


Organ involvement in DcSSc

GI involvement is very common and characteristic. Renal involvement can be acute or chronic -- major cause of death but reduced with ACEis and better dialysis. Lung disease --- fibrosis leading to pulmonary hypertension (PHT can also occur alone). Myocardial fibrosis (causing arrhythmias/conduction defects) and rarely pericarditis


Gastrointestinal problems in SSc

Reflux or dysphagia --> oesophageal involvement is v. common
Anal incontinence can occur
Dilation and atony of the small bowel (and rarely the large bowel) - can cause bacterial overgrowth leading to malabsorption
Pseudo-obstruction is also a know complication


Sine scleroderma

Systemic features without skin involvement
A rare subtype of scleroderma


Blood tests, urine and imaging for SSc

FBC -- anaemia of chronic disease and microangiopathic haemolytic anaemia in some pts with renal disease
U+Es --> Urea and creatinine will rise in acute kidney disease
Urine -> microscopy and proteinuria if kidney disease
Imaging --> CXR/CT for lung problems and barium swallow to confirm oesophageal dismotility


Hand X-rays in SSc

Looking for calcium deposition around the fingers
And if severe disease acrosteolyisis (resorption of the bone of the distal phalanges) - can be diffuse or bandlike


Management of SSc

Exercise and skin lubrication
ACE-I or A2RBs
Cyclophosphamide for organ involvement


Anti-PDGFR antibodies

It has been suggested that autoantibodies to platelet derived growth factor receptor stimulates fibroblasts because they have been found in the blood of pts with SSc but it is not usually tested


Use of corticosteroids and immunosuppressants in SSc

Rarely used unlike other ARDs
Used in SSc related pulmonary fibrosis


Treatment of Raynaud's

Hand warmers and oral vasodilators are 1st line (CCBs or ACEis)
In more severe cases stronger vasodilators and sympathectomy can be used (lumbar for feet & digital or thoracic for hands)


Treatment of Oesophageal symptoms of SSc

Most are significantly improved by PPIs and prokinetic agents


Treatment of Renal involvement of SSc

Tight control of HTN is important -- ACEi are first line
Hypertensive scleroderma renal crisis (SRC) is critical and must be treated -- early-stage, rapidly progressing DcSSc are most at risk
Risk may also be increased by high dose corticosteroids


Treatment of pulmonary disease in SSc

PHT is treated with oral vasodilators, warfarin and oxygen --> if severe give prostacyclins or endothelin blockers
Treat right sided HF as normal (consider lung transplant)
Pulmonary fibrosis is treated with cyclophosphamide or azathioprine+low dose pred


Prognosis of SSc

70% 10yr survival in LcSSc as it is generally mild -- early death is renal and late death is PHT - 50% of SSc death is pulmonary
DcSSc is more severe and aggressive and pts die of pulmonary, cardiac or renal problems


Relapsing polychondritis

Attacks cartilage (floppy pinna etc)
Assoc: aortic valve disease, polyarthritis, vasculitis
Treat w/steroids and Immunosuppresion