Multiple Sclerosis
Definition | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management
Definition
Multiple sclerosis (MS) is a chronic autoimmune demyelinating disease of the central nervous system (CNS), characterised by inflammation, demyelination, and neurodegeneration. It results in episodic or progressive neurological dysfunction.
Aetiology
- Autoimmune attack on myelin sheath and oligodendrocytes.
- Possible environmental and genetic factors contributing.
- Viral triggers such as Epstein-Barr virus (EBV) are implicated.
Pathophysiology
- Immune mediated attack on the CNS leads to demyelination.
- Formation of plaques (sclerotic lesions) in the brain and spinal cord.
- Neuroaxonal degeneration results in irreversible disability.
- Relapses occur due to inflammatory attacks on myelin, leading to remissions or progressive decline.
Risk factors
- Female sex (3:1 ratio compared to males).
- Age 20–40 years.
- Family history of MS.
- Low vitamin D levels.
- Previous Epstein Barr virus (EBV) infection.
- Smoking.
- Geographic location (higher prevalence in northern latitudes).
Signs and symptoms
Neurological Symptoms:
- Optic neuritis: painful monocular vision loss.
- Uhthoff’s phenomenon: symptoms worsen with heat.
- Internuclear ophthalmoplegia: impaired adduction of the affected eye.
- Lhermitte’s sign: electric shock sensation down the spine when neck is flexed.
- Fatigue: one of the most disabling symptoms.
- Spasticity: stiffness and muscle tightness.
- Sensory disturbances: paraesthesia, numbness, dysaesthesia.
Autonomic Symptoms:
- Bladder dysfunction (urgency, incontinence).
- Bowel dysfunction (constipation, incontinence).
- Sexual dysfunction.
Cognitive and Psychiatric Symptoms:
- Memory impairment.
- Difficulty concentrating.
- Depression and anxiety.
Investigations
- MRI Brain and Spine:
- Reveals white matter lesions (periventricular, juxtacortical, infratentorial, spinal).
- Enhancing lesions on contrast indicate active disease.
- Lumbar puncture:
- Oligoclonal bands in cerebrospinal fluid (CSF) suggest MS.
- Evoked potentials:
- Delayed visual evoked potentials (VEPs) indicate optic nerve involvement.
- Blood tests:
- Rule out differential diagnoses (e.g., vitamin B12 deficiency, vasculitis, HIV, Lyme disease).
Management (refer patient to neurology)
1. Disease-Modifying Therapy (DMT):
- Interferon beta, glatiramer acetate, natalizumab, ocrelizumab, fingolimod and dimethyl fumarate.
2. Acute Relapse Management:
- High-dose corticosteroids (e.g., methylprednisolone 1g IV for 3–5 days).
- Plasma exchange if severe relapse not responding to steroids.
3. Symptomatic Management:
Spasticity:
- Baclofen or gabapentin.
Pain:
- Amitriptyline, gabapentin, or pregabalin.
Bladder Dysfunction:
- Anticholinergics for urgency.
- Intermittent catheterisation for retention.
4. Rehabilitation and Supportive Care:
- Physiotherapy for mobility.
- Occupational therapy for daily living assistance.
- Psychological support for depression and cognitive issues.