Systemic Sclerosis Flashcards
Define
Rare connective tissue disease characterized by widespread small blood vessel damage and fibrosis in skin and internal organs
Aka. Scleroderma (skin fibrosis)
Cause
aetiology unknown
Genetic and environmental factors suggested
Specific antibodies and activated monocytes, macrophages and lymphocytes interact with:
- Endothelial cells → causing damage, platelet activation,
myointimal cell proliferation, narrowing of blood vessels
- Fibroblasts → lay down collagen in the dermis
Epidemiology
Age of onset: 30-60 yrs
3 x more common in FEMALES
Symptoms and Signs
Skin
- Reynaud’s phenomenon
- Hands – initially swollen, oedematous, painful fingers
- Later: thickened, tight, shiny and bound to underlying structures. Change in pigmentation and finger ulcers seen
- Face – microstomia (puckering and furrowing of perioral
skin), telangiectasia
- Lung → Pulmonary fibrosis leading to pulmonary HTN
- Heart → Pericarditis, pericardial effusion , MI, HF, arrhythmias
GI
- Dry mouth
- Oesophageal dysmotility (dysphagia), reflux oesophagitis
- Gastric paresis (N&V, anorexia), watermelon stomach
- Bacterial overgrowth, small bowel pseudo-obstruction,
- colonic hyper-motility (constipation)
- Anal incontinence, angiodysplasia
- Kidney → Hypertensive renal crisis, chronic renal failure
- Neuromuscular →
Trigeminal neuralgia, muscular wasting, weakness
- Other → Hypothyroidism, impotence, dryness of mucous membranes (cause dyspareunia)
- Overlap syndromes with polymyositis and SLE
Investigations
Autoantibodies
- Antinuclear
- Anti-centromere (70% of limited cutaneous systemic sclerosis cases)
- Anti-topoisomerase II (anti-Scl-70) - 30% of diffuse cutaneous systemic sclerosis cases
- Anti-nucleolar
- Anti-RNA polymerase
Lungs - CXR, pulmonary function tests, CT scan
Heart - ECG, echocardiography
GI - endoscopy, barium studies
Kidneys - U&Es, creatinine clearance
Neuromuscular - electromyography, biopsy
Joints - radiography
Skin - biopsy (rarely needed)
