Systemic Sclerosis Flashcards
Define Systemic Sclerosis?
Rare connective tissue disease characterised by widespread small blood vessel damage and fibrosis in skin and internal organs
What is Systemic Sclerosis also known as?
Scleroderma
What is the spectrum of diseases in Systemic Sclerosis?
Pre-Scleroderma
Diffuse Cutaneous Systemic Sclerosis (40%)
Limited Cutaenous Systemic Sclerosis (60%)
Scleroderma Sine Scleroderma
What are the characteristics of Pre-Scleroderma?
Raynaud’s phenomenon
Nail-fold capillary changes
Antinuclear antibodies
What are the characteristics of Diffuse Cutaneous Systemic Sclerosis?
Raynaud's phenomenon Followed by skin changes with truncal involvement Tendon friction Joint contracture Early lung disease Heart, GI and renal disease Nail-fold capillary dilatation
What was Limited Cutaneous Systemic Sclerosis previously known as?
CREST Syndrome because of its five characteristic features
What are the 5 characteristic features of Limited Cutaneous Systemic Sclerosis?
CREST Calcinosis Raynaud's phenomenon (O)esophageal dysmotility Sclerodactyly Telangiectasia
What is Scleroderma sine Scleroderma?
Internal organ disease with NO skin changes
What is the aetiology of Systemic Sclerosis?
Genetic and environmental factors
Pathogenesis is unclear
Activated monocytes, macrophages and lymphocytes may interact with Endothelial Cells and Fibroblasts
What happens when Activated Monocytes, macrophages and lymphocytes interact with endothelial cells in Systemic Sclerosis?
Endothelial Cell Damage
Platelet activation
Narrowing of blood vessels
What happens when Activated Monocytes, macrophages and lymphocytes interact with Fibroblasts in Systemic Sclerosis?
Lay down collagen in the dermis
What is the epidemiology of Systemic Sclerosis?
Age of onset: 30-60 yrs
3x more common in FEMALE
What are the presenting symptoms and signs of Systemic Sclerosis on the skin?
Raynaud’s Phenomenon
What are the presenting symptoms and signs of Systemic Sclerosis on the Hands?
Initially swollen painful fingers
Later, they become thickened, tight, shiny and bound to underlying structures
Changes in pigmentation
Finger ulcers
What are the presenting symptoms and signs of Systemic Sclerosis on the Face?
Microstomia (puckering of the skin around the mouth)
Telangiectasia
What are the presenting symptoms and signs of Systemic Sclerosis in the Lungs?
Pulmonary fibrosis which leads to pulmonary hypertension
What are the presenting symptoms and signs of Systemic Sclerosis on the heart?
Pericarditis or pericardial effusion
Myocardial fibrosis
Heart failure
Arrhythmias
What are the presenting symptoms and signs of Systemic Sclerosis in the GI?
Dry mouth
Oesophageal dysmotility
Reflux Oesophagitis
Gastric paresis
What are the presenting symptoms and signs of Systemic Sclerosis on the Kidneys?
Hypertensive renal crisis
Chronic renal failure
What are the neuromuscular presenting symptoms and signs of Systemic Sclerosis?
Trigeminal neuralgia
Muscular wasting
Weakness
What are the orher presenting symptoms and signs of Systemic Sclerosis?
Hypothyroidism
Impotence
What investigations do we do for Systemic Sclerosis?
Autoantibodies Lung investigations Heart investigations GI investigations Kidney investigations Neuromuscular investigations Joint investigations Skin investigations
What autoantibodies do we look for in Systemic Sclerosis?
Antinuclear
Anti-centromere (70% of limited cutaneous systemic sclerosis cases)
Anti-topoisomerase II (anti-Scl-70) - 30% of diffuse cutaenous systemic sclerosis cases
Anti-nucleolar
Anti-RNA polymerase
What investigations do we do for the Lungs for Systemic Sclerosis?
CXR
Pulmonary function tests
CT scan
What investigations do we do for the heart in Systemic Sclerosis?
ECG
Echocardiography
What investigations do we do for the GI in Systemic Sclerosis?
Endoscopy
Barium studies
What investigations do we do for the Kidneys in Systemic Sclerosis?
U&Es
Creatinine clearance
What neuromuscular investigations do we do for Systemic Sclerosis?
Electromyography
Biopsy
What investigations do we do for Joints in Systemic Sclerosis?
Radiography
What investigations do we do for the Skin in Systemic Sclerosis?
Biopsy (rarely needed)
