Makindo Medical Notes.com

Related Subjects: |Relapsing Polychondritis |Reactive Arthritis |Raynaud's Phenomenon |Polymyositis |Dermatomyositis |Polyarteritis nodosa |Osteoporosis |Rheumatoid Arthritis |Systemic Sclerosis (Scleroderma) |Rheumatology Autoantibodies |Overlap Syndrome |Sjögren’s syndrome

The main cause of death is lung disease followed by renal and cardiac disease. The limited disease has a better prognosis with milder organ involvement

About

• Sclerosis: "hardening" of tissue with loss of compliance
• Scleroderma: thickening and fibrosis of the skin
• A collection of events leads to increase fibroblasts

Aetiology

• Possibly due to increased collagen deposition by fibroblasts
• Commonly with Raynaud's phenomenon
• Antibodies to centromere, topoisomerase and RNA polymerases.
• May exist with SLE/RA/Polymyositis, Renal, Lung fibrosis, cardiac and Gut involvement.
• Can be classified into Diffuse and Limited Cutaneous SSc forms.
• Diagnosis is clinical. Antibodies help but if negative they do not negate the diagnosis.

Systemic sclerosis (scleroderma)

• Multisystem disease with involvement of the skin and Raynaud’s phenomenon

Limited Cutaneous Scleroderma (CREST syndrome)

• Better prognosis. Starts as Raynaud's Phenomenon seen in 70%
• Anti nucleolar or anti centromere antibodies in 70%
• Scleroderma: telangiectasia on skin and mucosa which can bleed.
• Face: Tight around mouth "microstomia" and "beak-like "nose
• Flexion contracture (Sclerodactyly) of the fingers
• Painful digital ulcers.
• Calcium deposition in the fingers (calcinosis).
• Dilated nail fold capillary loops (magnifying glass).
• Oesophageal - dysmotility and GORD and strictures - treat with PPI
• Gastric holdup, early satiety - prokinetic agents.
• Delayed Gut transit time, bacterial overgrowth and malabsorption.
• Pulmonary hypertension

This was called CREST for Calcinosis, Raynaud’s phenomenon, Esophageal involvement, Sclerodactyly, Telangiectasia

Diffuse Cutaneous Scleroderma

• More widespread than limited disease
• Skin changes as above but more oedematous prior to usual changes
• Oesophageal - dysmotility and GORD and strictures - treat with PPI.
• Gastric holdup, early satiety - prokinetic agents.
• Delayed transit time, bacterial overgrowth and malabsorption.
• Raynaud's phenomena - precipitated by cold or emotion. Those with positive autoantibodies may go on to develop SSc
• Pulmonary fibrosis strongly related to anti-topoisomerase antibodies and negatively related to anti-centromere.
• Pulmonary hypertension (PHT) can occur without pulmonary fibrosis.
• Cardiac - pericarditis, myocardial fibrosis, conduction defects
• Renal disease: AKI/CKD. accelerated hypertension.
• Acute renal crisis: Rx ACEI, CCB. Some develop glomerulonephritis
• Anti topoisomerase and anti-RNA polymerase I II III in 30%

Localised Scleroderma disease without telangiectasia or other systemic involvement

• Localised Morphea: localised thickened plaques with altered increased or reduced pigmentation and an inflamed reddened border
• Generalised Morphea: Widespread itchy lesions which can follow peripheral veins. May require potent anti-inflammatories
• Linear Scleroderma: Linear limb asymmetrical distributions
• En coup de sabre: linear Scleroderma. Affects tissues, muscles, bone and brain.

Investigations

• Anaemia, Elevated ESR and CRP
• Rheumatoid factor positive 30%
• ANA positive in 90% (homogenous/speckled)
• Anti centromere antibodies 80% limited disease and 10% diffuse
• Anti scl70 antibodies (Anti topoisomerase I) in 20-40%
• Anti-RNA polymerase Diffuse disease
• Transfer factor reduced: suggest lung disease get HRCT
• Doppler echo and HRCT and right heart catheter if PHT suspected
• Barium swallow impaired motility
• Radiology. Hand X-ray: deposits of calcium around the fingers. Erosion and resorption of the tufts of the distal phalanges.
• HRCT Lung: fibrotic lung
• Barium swallow shows impaired oesophageal motility.

Management

• Education, counselling, family support are essential aspects of management
• Raynaud's: avoiding cold weather, gloves, calcium channel blocker
• Hypertensive crises: ACEI to improve survival.
• Digital ulcers: vasodilators e.g. CCBs, Prostacyclin, Sildenafil, Sympathectomy, Bosentan (ET receptor blocker)
• Skin scleroderma: Immunosuppression e.g. Cyclophosphamide, Mycophenolate mofetil, Methotrexate
• Pulmonary fibrosis: HRCT, Spirometry, CXR, Lung biopsy. Use Cyclophosphamide or azathioprine combined with low-dose oral prednisolone.
• Pulmonary hypertension: LTOT, Digoxin, Diuretics, Anticoagulation. Parenteral Prostacyclin, Oral Bosentan. Atrial septostomy. Transplantation.
• Gut: Oesophageal: PPIs for GORD. Vascular lesions bleed around cardia need local laser therapy. Antibiotics for bacterial overgrowth and prokinetic agents. Symptomatic malabsorption requires nutritional supplementation.

10 year Prognosis

• Limited cutaneous 70%
• Diffuse cutaneous 55%
• Pulmonary fibrosis and PHT are the major causes of death.