Disease Description (Causes and Pathophysiology, Main Symptoms)
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Definition: Multiple sclerosis (MS) is a demyelinating inflammatory disease of the central nervous system (brain, spinal cord, and optic nerves) in which the immune system damages myelin and axons in the central nervous system, causing neurological abnormalities distributed focally and over time (attacks, relapse).
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Pathophysiology summary: Genetic predisposition and environmental factors interact to induce an autoimmune response against the central nervous system. Inflammatory lesions (demyelination, axonal damage, and glial responses) are scattered throughout the white and gray matter, resulting in clinical patterns such as relapsing-remitting and progressive forms.
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Main causes (summary): No clear single cause has been identified — genetic predisposition, geographic and environmental factors (e.g., higher prevalence in high-latitude regions), and the involvement of infections and immune mechanisms.
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Main symptoms:
- Optic neuritis (visual impairment/visual field defects), diplopia and nystagmus (brainstem damage)
- Sensory abnormalities (tingling, decreased sensation), motor weakness/paralysis, hemiplegia
- Spasticity and tremor (cerebellar symptoms), gait and balance disorders
- Urinary, bowel, and sexual dysfunction; chronic fatigue, cognitive impairment, and depression
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Diagnostic evaluation (summary):
- Neurological examination (assessment of lesion distribution and dissemination in time)
- MRI (brain and spinal cord): multiple T2 lesions, Gd-enhancing lesions, etc.
- Cerebrospinal fluid testing: inflammatory markers such as oligoclonal bands (OCB)
- Evoked potential testing (visual, auditory, etc.)
- Blood tests: differential diagnosis (e.g., neuromyelitis optica — AQP4 antibodies, anti-MOG, etc.) and pre-treatment testing for latent infections, liver function, blood counts, etc.
Treatment Methods (Standard Treatment, Medications, Procedures/Surgery, Lifestyle Management, Precautions)
- Treatment of acute relapses
- High-dose steroids (e.g., IV methylprednisolone for 3–5 days) — symptom relief and promotion of recovery
- Plasma exchange (plasma exchange, PLEX) for severe steroid-refractory relapses
- Disease-modifying therapies (DMTs)
- Injectable medications: Interferon beta (Interferon-β drugs), glatiramer acetate
- Oral medications: Fingolimod, Siponimod, Ozanimod, Dimethyl fumarate, Teriflunomide, Cladribine
- Intravenous medications/antibodies: Natalizumab, Alemtuzumab, Ocrelizumab, Ofatumumab
- When using high-efficacy, high-risk medications, monitoring for infections, blood and liver tests, and cardiac and thyroid monitoring are required
- Medication selection is individualized according to the clinical type (relapsing-remitting vs. progressive), relapse history and degree of disability, the patient’s underlying diseases, pregnancy plans, and other factors
- Symptomatic treatment by symptom (examples)
- Spasticity and muscle spasms: baclofen, tizanidine
- Neuropathic pain: gabapentin, pregabalin, duloxetine, etc.
- Gait impairment: dalfampridine, etc. (indications must be confirmed)
- Bladder dysfunction: anticholinergic drugs, beta-3 agonists, intermittent catheterization
- Fatigue and depression: non-pharmacological strategies (sleep, exercise, and energy conservation) and medication treatment when necessary
- Rehabilitation: physical therapy, occupational therapy, and assistive devices
- Vaccination and infection management
- Before starting DMT, testing for hepatitis B, hepatitis C, tuberculosis, and other latent infections, and vaccination when necessary (timing should be adjusted when live vaccines are used)
- During immunosuppressive treatment, the risk of infection increases — monitoring and avoidance of exposure to infections are recommended
- Pregnancy and breastfeeding
- Some DMTs (e.g., teriflunomide) carry a risk of causing birth defects → discontinue and eliminate the drug when planning pregnancy (follow recommendations specific to the medication)
- Pregnancy and breastfeeding guidelines differ by DMT → consult a specialist when making treatment decisions
- Complications and precautions
- Medication-specific complications: risk of PML (progressive multifocal leukoencephalopathy) associated with natalizumab — JCV antibody testing and monitoring are required
- Possibility of secondary autoimmune diseases (thyroid, kidney, etc.) after using alemtuzumab
- Medications requiring cardiac monitoring (e.g., observation for bradycardia when initiating fingolimod)
- Monitoring of liver function and hematological abnormalities (teriflunomide, dimethyl fumarate, etc.)
- Lifestyle management (recommended self-management)
- Smoking cessation (associated with worsening progression), regular exercise and rehabilitation, stress management, optimization of vitamin D status (supplementation when necessary), sleep hygiene, and weight management
Outpatient Visit Checklist (Examples of Items to Bring and Records to Prepare)
- Items/documents to bring or submit
- List of currently used medications (including prescriptions, OTC medications, and supplements)
- Recent test results and reports (MRI report, cerebrospinal fluid test results, blood tests)
- Vaccination records (particularly hepatitis B, HPV, influenza, etc.)
- Previous hospitalization and surgery records and history of allergies
- Symptom records (useful during the consultation)
- Timing and course of symptom onset (onset and recovery patterns), relapse frequency and duration
- Changes in daily functioning (walking, urination and bowel movements, vision, cognition, etc.)
- Fatigue, depression, and sleep patterns; symptoms suspected to be medication side effects
- Other preparations
- Whether pregnant or planning pregnancy, and whether contraception is being used
- Information related to restrictions on daily activities such as work and driving
- Include example questions (it is useful to write them down and bring them before the consultation)
- Prepare summarized questions about recent MRI or test results
- Possible effects of changing medications on daily life (driving, work, pregnancy plans, etc.)
Examples of General Questions to Ask the Doctor
- What is the subtype of this disease (relapsing-remitting vs. progressive), and what is my current condition?
- What are the advantages and disadvantages of the DMT you recommend for me (side effects and monitoring requirements)?
- What treatment will I receive during an acute relapse? What are the criteria for a relapse?
- What recommendations should I follow regarding infections and vaccinations while taking the medication?
- What lifestyle habits should I prioritize to manage symptoms in daily life?
- What level of prognosis (long-term preservation of function) can I expect?
Examples of Disease-Specific Questions (1–2)
- Based on my current MRI and clinical findings, which DMT (low-, moderate-, or high-efficacy) do you recommend starting with? What is the rationale for the choice, and what monitoring plan is expected?
- When considering high-efficacy medications such as natalizumab or ocrelizumab, how do you assess and monitor the risk of PML or serious infections (e.g., frequency of JCV testing and MRI screening intervals)?