Systemic Sclerosis Flashcards
Define systemic sclerosis
Multi-system connective tissue autoimmune disease characterised by functional and structural abnormalities of small blood vessels, fibrosis of skin and internal organs, and auto-antibody production
AKA scleroderma
What are the types of systemic sclerosis
Limited cutaneous systemic sclerosis (60%)
- CREST (calcinosis, Raynaud’s phenomenon, (o)esophageal dysmotility, sclerodactyly, telangiectasia)
Diffuse cutaneous systemic sclerosis (40%)
- Raynaud’s
- Skin changes with truncal involvement
- Tendon friction
- Joint contracture
- Early lung, heart, GI, and renal disease
- Nail fold capillary dilation
What is pre-scleroderma and scleroderma sine scleroderma
Also pre-scleroderma: Raynaud’s phenomenon, nail-fold capillary changes and ANA
Also scleroderma sine scleroderma: internal organ disease with no skin changes
Aetiology of systemic sclerosis
Loss of B cell tolerance to nuclear antigens with positive ANA (anti-centromere Ab and anti-topoisomerase Ab (Scl70). Inflammation with Th2 and Th17 cells dominating. Cytokines lead to activation of fibroblasts and development of fibrosis.
Epidemiology of systemic sclerosis
Women are affected much more frequently than men, ratio 5:1
Rare in childhood, more common in young adults
Peak incidence in the 5th decade
Symptoms and signs of limited cutaneous sclerosis
Calcinosis: small white deposits on presssure points e.g. elbows, knees, fingertips
Raynaud’s phenomenon: exaggerated vasospasm to cold temp. or stress → colour change (white → blue → crimson)
(o)esophageal dysmotility
Sclerodatyly: thickened, tight, shiny, swollen fingers
Telangiectasia
Salt and pepper appearance due to depigmentation
Face: loss of expression, no wrinkles, shortened frenulum, microstomia (small mouth)
Proximal nail fold lesions
Digital pitting from hyperkeratotic scarring
Painful digital ulcers
Symptoms and signs of diffuse cutaneous systemic sclerosis
Skin changes involving the trunk
Raynaud’s phenomenon: exaggerated vasospasm to cold temp. or stress → colour change (white → blue → crimson)
Tendon friction
Early lung disease
Heart, GI and renal disease
Dysphagia, reflux
Salt and pepper appearance due to depigmentation
Face: loss of expression, no wrinkles, shortened frenulum, microstomia (small mouth)
Proximal nail fold lesions
Digital pitting from hyperkeratotic scarring
Painful digital ulcers
What are the organ manifestations of systemic sclerosis
Lung: Pulmonary fibrosis leading to pulmonary hypertension
Heart: pericarditis, effusion
GI: dry mouth, dysphagia, reflux, oesophagitis, gastric paresis (nausea, vomiting, anorexia), watermelon stomach, bacterial overgrowth, angiodysplasia
Kidney: Hypertensive renal crisis, chronic renal failure
Neuro: trigeminal neuralgia, muscular wasting/weakness
Hypothyroidism, impotence, dyspareunia
Investigations for systemic sclerosis
Americal College of Rheumatology and European League against Rheumatism criteria: ≥9 = definite systemic sclerosis
Urine microscopy: ?renal disease
Antibodies:
- Anti-centromere: limited cutaneous
- Anti-topoisomerase (Scl-70): diffuse cutaneous
- ANA +ve (90%)
- Anti-nucleolar, anti-PM/Scl, anti-RNA-polymerase
CRP/ESR: may be raised
FBC: ?GI blood loss, renal failure (MAHA)
U&Es: ?renal disease
CXR: ?interstitial lung disease (bi-basilar infiltrates, cardiomegaly, signs of RHF)
Pulmonary function testing: ?ILD (reduced FVC, normal ratio Pulmonary hypertension: a disproportionate drop in Diffusing capacity of the lung for carbon monoxide (DLCO) compared with FVC)
Nail fold capillaroscopy: dilated tortuous loops
+ to look for manifestations:
Heart: ECG, echo
GI: endoscopy, barium studies. Gastric/oesophageal scintigraphy
Kidney: U&Es + Cr clearance
Neuromuscular: electromyography, nerve conduction studies, biopsy
Joints: radiography
Skin: biopsy, muscle biopsy for myositis
Management of systemic sclerosis
Conservative (most pts)
- Exercise and skin lubricants: ↓ contractures
- Hand warmers, avoid cold: Raynaud’s
Medical:
- (1) CCBs (nifedipine), SSRIs (fluoxetine) (2)PDE V inhibitors (sildenafil), IV prostacyclin (iloprost)
- Immunosuppression
- Renal crisis: intensive BP control (1st line: ACEi – despite this being CI in AKI)
- Oesophageal: PPIs, prokinetics (metoclopramide)
- PHT: sildenafil, bosentan
Complications of systemic sclerosis
Limited cutaneous: most worried about pulmonary hypertension
Diffuse cutaneous: most worried about renal failure → acute HTN crisis and interstitial lung disease/pulmonary fibrosis
Prognosis of systemic sclerosis
Limited has a better prognosis than diffuse
Diffuse: initial progressive course followed by stabilisation and regression
Tendon friction rubs = poor prognostic indiactor
Severe and life-threatening renal disease develops in 10% to 15% of scleroderma patients (usually diffuse)
Interstitial lung disease (ILD) occurs in the first few years of disease onset and can be slowly progressive
Mean survival is about 12 years after diagnosis
Types of Raynaud’s phenomenon
Primary or Secondary to systemic sclerosis or scleroderma, sjogrens, lupus, rheumatoid arthritis
Severe raundauds → digital ulceration.
