Systemic sclerosis Flashcards
What are the clinical features of limited cutaneous scleroderma (LcSSc), formerly known as CREST Syndrome?
Distribution:
- Cutaneous: affects the hands (distal to elbows), feet (distal to knees) and face
- Visceral: Visceral involvement is present
Onset: Raynaud’s (100%) - up to 15 years before skin changes appear
Following which:
- C: Calcinosis cutis -> calcium deposition in the skin of the digits
- R: Raynaud’s -> Occurs when emotional / cold. Characteristic White (from no blood) -> Blue (from hypoxia) -> Red (on reheating)
- E: Esophageal dysmotility (causing reflux, dysphagia)
- S: Sclerodactyly -> fixed flexion deformities (contractures), digital ulcers (from ischaemia)
- T: Telangiectasia -> face, lip, nail folds
‘Beak’-like nose and microstomia
Pulmonary HTN (20%) and ILD: significantly LATE incidence of Pul HTN, w or w/o ILD
What are the clinical features of diffuse cutaneous scleroderma (DcSSc)?
A/w anti-Scl-70 ab (anti-topoisomerase Ab)
Distribution:
- Cutaneous: affects the entire body (both truncal and acral)
- Visceral: Visceral involvement is present
Onset: Raynaud’s (100%) –> diffuse edema of hands & feet –> progressive skin tightening (sclerosis) & thickening –> eventual Sclerodactyly within 1 yr of Raynaud’s onset
Progression
- Diffuse Oedema/ Swelling -> progressive extensive skin thickening (involvement of whole body in some cases) & tightening -> skin atrophy
- Significantly EARLY incidence of organ involvement including Pulmonary HTN, ILD, Renal failure, diffuse GI Dz, and myocardial involvement
- With systemic S&S (lethargy, anorexia, weight loss) – due to early organ involvement
What is the cutaneous manifestations of systemic sclerosis?
- Diffuse oedema of hands & feet -> sclerosis and progressive thickening of skin -> Sclerodactyly
- Calcinosis Cutis
- Telangiectasias
- Digital Ulcers (from vascular ischaemia)
- Contractures – fixed flexion deformities
What is the vascular manifestations of systemic sclerosis?
Raynaud’s phenomenon due to emotional stress / cold temp
- Pri Reynaud’s Does not require follow-up and has no Cx
- Sec Reynaud’s requires us to seek out aetiology
Digital ischemia and ulcers
What is the GI manifestations of systemic sclerosis?
- Oesophageal hypomotility & LOS incompetence (as SM is replaced by fibrous tissue) -> heartburn, reflux or dysphagia (almost invariable) -> (possibly recurrent) aspiration pneumonia
- Anal incontinence (many patients)
- Pseudo-obstruction (ileus from dysmotility) due to reduced peristalsis in GIT
- Dilation, atony of small bowel leading to bacterial overgrowth (SIBO) and malabsorption -> SIBO can lead to intermittent diarrhoea and constipation
- Dilation and atony of colon (rare)
What is the renal manifestations of systemic sclerosis?
Acute (scleroderma renal crisis) or chronic (CKD) involvement
Scleroderma renal crisis (5-20% of DcSSC): EMERGENCY, may have rapid progression to ESRF and death
- A severe, rapidly progressive Renal Dz in pt with SSc
Features:
1) AKI
2) Acute onset HTN (May even present w malignant HTN) -> a/w ↑ Renin
- To screen for Hypertensive Retinopathy / Encephalopathy etc
- However, 10% of pt present with normal BP!
3) Normal/mild proteinuria (usually have a NORMAL urine sediment as there is no GN!)
4) MAHA (some, ~50%?)
5) Thrombocytopenia
What are the lung manifestations of systemic sclerosis?
- Fibrosis & ILD - 40% (dyspnoea, non productive cough)
- Pulmonary HTN (17%): isolated (from Endothelin 1) or secondary to fibrosis
- Aspiration Pneumonia (from Esophageal dysmotility)
What are the cardiac manifestations of systemic sclerosis?
- Myocardial fibrosis -> arrhythmias, conduction defects (heart blocks etc)
- Pericarditis, Pericardial Effusion (occasionally)
- (restrictive) Cardiomyopathy -> CCF
What are the differences between DcSSc and LcSSC?
- Interval between Raynaud’s & systemic sclerosis
- early symptoms
- progression
- telangiectasia/ calcinosis timing
- typical organ involvement
- autoantibodies
- Interval between Raynaud’s & systemic sclerosis: short for DcSSc, long for LcSSc
- early symptoms: swollen/ oedematous lungs & legs for DcSsc, intermittent puffy fingers for LcSSc
- progression: rapid for DcSSc, slow for LcSSc
- telangiectasia/ calcinosis timing: occur late for DcSSc, common & occur early for LcSSc:
typical organ involvement
- DcSSc: ILD, PAH (2’ to ILD/ isolated), cardiomyopathy, renal crisis, GI
- LcSSc: Isolated PAH, vasculopathy (digital tip ischemia/ ulcers), GI, ILD can occur
Autoantibodies:
- DcSSc: anti Scl- 70 (anti topo-I), Anti RNA polymerase III, Anti- U3 RNP
- LcSSc: anti centromere, anti th/ to, Anti Pm/ Sci, Anti-U1RNP
What are the investigations to be conducted in patients with systemic sclerosis?
FBC: NCNC anaemia, MAHA (in patients w renal disease)
Renal panel: ↑ urea and creatinine in AKI
Autoantibodies
1) LcSCC: anti-centromere antibodies (ACA) in 70%
2) DcSCC
- Anti-topoisomerase-1 antibodies (anti-Scl-70) in 30%; highly specific
- Anti-RNA polymerase (I, II, III) in 20-25%; a/w pulmonary fibrosis
3) RF +ve in 30%
4) ANA +ve in 95%
Urine
- Urine microscopy: if proteinuria, do urine PCR
Imaging
- CXR: to r/o pathology, detect changes in cardiac size and pre-existing lung disease
- Hands: deposition of calcium around fingers; may have erosion and absorption of tufts of distal phalanges (‘acro-osteolysis’)
- Barium swallow: confirms impaired oesophageal motility; scintigraphy, manometry, impedance, upper GI endoscopy may also be valuable
- HRCT: ILD
Other investigations:
- GIT, lung (spirometry), renal, cardiac (U/S), nail fold capillaroscopy
- Nailfold Capillaroscopy shows vasculopathy via 1) Loss of Capillaries and 2) Neogenesis & bushy capillaries due to prolonged ischamia
What is the ACR 2013 classification used to diagnose SSc?
Skin thickening of the fingers of both hands proximal to MCPJ = 9
Skin thickening of the fingers only (only count the higher score)
- puffy fingers (=2)
- sclerodactyly of the fingers (distal to MCPJ nut proximal to PIPJ) = 4
Finger tip lesions (only count the higher scores)
- digital tip ulcers (=2)
- fingertip pitting scars (=3)
Telangiectasia = 2
Abnormal naifold capillaroscopy = 2
PAH and/ or ILD (=2)
Raynaud’s phenomenon (=3)
SSc related antibodies (anticentromere, anti Scl70 or anti RNAP III)= 3
How is systemic sclerosis is managed?
- Currently no cure; give organ-based treatment to control the disease
- Corticosteroids and immunosuppressants are rarely used (w exception of pulmonary fibrosis)
- Education, counselling and family support are essential
How are the skin symptoms of SSc managed?
- Regular exercises and skin lubricants may limit contractures
- For rapidly progressive skin involvement, may consider MTX, CYC, MMF
How is Raynaud’s phenomenon managed?
Improved by hand warmers or vasodilators (CCBs, ACE-I, ARBs)
Severe cases: parenteral vasodilators (prostacyclin analogues, calcitonin gene-related peptide)
Surgery:
- Lumbar sympathectomy may help foot symptoms
- Radical micro-arteriolysis (digital sympathectomy): for severely ischemic individual fingers or toes
- Thoracic sympathectomy
How are the GI symptoms of SSc managed?
- PPIs - almost always improves symptoms
- Nutritional supplements
- Rotational antibiotics - treats small bowel bacterial overgrowth
