Multiple Sclerosis (MS)

Definition

Multiple Sclerosis (MS) is a chronic autoimmune disease that affects the central nervous system (CNS), specifically the brain and spinal cord. It involves the immune system attacking the protective sheath (myelin) that covers nerve fibres, leading to communication problems between the brain and the rest of the body.

Aetiology

The exact cause of MS is unknown, but it is believed to result from a combination of genetic, environmental, and immunological factors:

• Genetic predisposition: Family history of MS increases the risk
• Environmental factors: Low vitamin D levels, smoking, and previous viral infections (e.g., Epstein-Barr virus)
• Immunological factors: Abnormal immune response causing inflammation and damage to myelin

Pathophysiology

In MS, the immune system mistakenly attacks the myelin sheath, leading to inflammation and scarring (sclerosis). This process disrupts the ability of nerves to transmit signals efficiently. The disease can affect multiple areas of the CNS, leading to a wide range of symptoms depending on the location and extent of the damage.

Risk Factors

• Age: Most commonly diagnosed between ages 20 and 40
• Sex: More common in women than men
• Family history: Increased risk if a first-degree relative has MS
• Geographic location: Higher prevalence in regions farther from the equator
• Infections: Previous infections with viruses such as Epstein-Barr
• Vitamin D deficiency
• Smoking

Signs and Symptoms

• Numbness or weakness in one or more limbs
• Partial or complete loss of vision, usually in one eye at a time
• Double vision or blurring of vision
• Tingling or pain in parts of the body
• Electric-shock sensations with certain neck movements
• Tremor, lack of coordination, or unsteady gait
• Fatigue
• Dizziness
• Problems with bladder and bowel function

Investigations

• Clinical history and physical examination, including neurological assessment
• Magnetic Resonance Imaging (MRI) of the brain and spinal cord to detect lesions
• Lumbar puncture to analyze cerebrospinal fluid (CSF) for oligoclonal bands
• Evoked potentials to measure electrical activity in the brain in response to stimuli
• Blood tests to rule out other conditions with similar symptoms

Management

Primary Care Management

• Initial assessment and referral to a neurologist for further evaluation and diagnosis
• Management of acute relapses with corticosteroids (e.g., methylprednisolone)
• Symptom management, including pain relief and addressing fatigue
• Monitoring and support for patients and families

Specialist Management

• Immunomodulatory therapies (e.g., interferon beta, glatiramer acetate) to reduce the frequency of relapses
• Monoclonal antibodies (e.g., natalizumab, ocrelizumab) for more severe cases
• Physical therapy to maintain mobility and function
• Occupational therapy to assist with daily activities
• Speech therapy for patients with speech and swallowing difficulties
• Management of associated symptoms (e.g., spasticity, bladder issues) with medications and lifestyle changes
• Psychological support and counselling for patients and families
• Regular follow-up to monitor disease progression and treatment response

Example Management for Multiple Sclerosis

A patient presenting with symptoms suggestive of MS should be referred to a neurologist for a comprehensive evaluation, including MRI and lumbar puncture. If diagnosed with relapsing-remitting MS, the patient may be started on an immunomodulatory therapy such as interferon beta or glatiramer acetate to reduce the frequency and severity of relapses. Acute relapses may be managed with high-dose corticosteroids. Symptom management may include medications for spasticity and pain, physical therapy to maintain mobility, and occupational therapy to assist with daily activities. Psychological support and regular follow-up are essential to address the patient's ongoing needs and adjust the treatment plan as necessary.

References

1. NICE. (2024). Multiple Sclerosis in Adults: Management. Retrieved from NICE
2. NHS. (2023). Multiple Sclerosis. Retrieved from NHS
3. Compston, A., & Coles, A. (2008). Multiple Sclerosis. The Lancet.
4. Hauser, S. L., et al. (2017). Ocrelizumab versus Interferon Beta-1a in Relapsing Multiple Sclerosis. New England Journal of Medicine.
5. Rovira, À., & Swanton, J. K. (2013). Imaging in Multiple Sclerosis. Journal of Neurology, Neurosurgery & Psychiatry.