From the Guidelines
Multiple Sclerosis (MS) is a chronic autoimmune inflammatory disease of the central nervous system characterized by demyelination and axonal damage, and its diagnosis relies on the McDonald criteria, which require demonstration of lesions disseminated in time and space using clinical and MRI findings, as stated in the 2010 McDonald criteria 1. The etiopathogenesis of MS involves a complex interplay of genetic susceptibility (particularly HLA-DRB1*15:01) and environmental factors such as Epstein-Barr virus infection, vitamin D deficiency, smoking, and obesity, which trigger an abnormal immune response where T cells and B cells attack myelin sheaths surrounding nerve fibers, leading to inflammation, demyelination, and eventual neurodegeneration. Clinical features of MS vary widely but commonly include:
- Visual disturbances (optic neuritis)
- Sensory abnormalities (numbness, tingling)
- Motor weakness
- Fatigue
- Cognitive impairment
- Bladder dysfunction
- Balance problems The disease typically follows relapsing-remitting, secondary progressive, primary progressive, or progressive-relapsing courses. Diagnostic tests for MS include:
- MRI (showing characteristic periventricular, juxtacortical, infratentorial, and spinal cord lesions) 1
- Cerebrospinal fluid analysis (showing oligoclonal bands)
- Visual evoked potentials
- Blood tests to exclude mimics Treatment for MS includes:
- Acute relapse management with corticosteroids (methylprednisolone 1000mg IV daily for 3-5 days)
- Disease-modifying therapies categorized as first-line (interferons, glatiramer acetate, teriflunomide, dimethyl fumarate) or second-line (fingolimod, natalizumab, ocrelizumab, alemtuzumab, cladribine) based on efficacy and risk profiles Symptomatic management addresses specific manifestations like:
- Spasticity (baclofen, tizanidine)
- Fatigue (amantadine, modafinil)
- Pain (gabapentin, pregabalin)
- Bladder dysfunction (anticholinergics) Comprehensive care includes rehabilitation, psychological support, and lifestyle modifications to improve quality of life and slow disease progression, as recommended by the MAGNIMS consensus guidelines 1.
From the Research
Etiopathogenesis of Multiple Sclerosis
- Multiple sclerosis (MS) is a chronic autoimmune, inflammatory, and neurodegenerative disease that affects the central nervous system (CNS) 2.
- The exact causes of MS are not fully understood, but genetic and environmental factors are thought to control MS onset and progression 2, 3.
- MS is characterized by immune dysregulation, which results in the infiltration of the CNS by immune cells, triggering demyelination, axonal damage, and neurodegeneration 2, 4.
- The disease is thought to be due to a complex interaction between different genetic and environmental factors, including exposure to infectious agents, vitamin deficiencies, and smoking 5, 3.
Clinical Features of Multiple Sclerosis
- MS is characterized by the progressive loss of axonal myelin in several areas of the CNS, leading to clinical symptoms such as muscle spasms, optic neuritis, and paralysis 6.
- The disease can lead to severe physical or cognitive disability as well as neurological defects 3.
- The prevalence of MS is rising all over the world, due to earlier diagnosis and prolonged survival, as well as a true increase in incidence of the disease 5.
Diagnostic Criteria for Multiple Sclerosis
- The diagnosis of MS remains clinical despite recent advances in diagnostics and relies on demonstrating dissemination in space and time while excluding alternative diagnoses 5.
- The McDonald diagnostic criteria, with their recent 2017 revision, are currently widely accepted in the MS community 5.
Diagnostic Tests for Multiple Sclerosis
- Magnetic resonance imaging (MRI) is used to accumulate lesions and determine treatment response 5.
- Cerebrospinal fluid (CSF) analysis can be used to detect high levels of T helper (Th) cells and related cytokines and chemokines, which contribute to the breakdown of the blood-brain barrier (BBB) and the activation of resident astrocytes and microglia 6.
Treatment Options for Multiple Sclerosis
- Although no cure is yet available, many disease-modifying therapies (DMTs) have shown different levels of efficacy in preventing relapses, accumulation of lesions on MRI, and disability progression 5.
- Current treatment strategies include gradual escalation based on clinical and radiological criteria that determine treatment response, or initial induction with high efficacy DMTs especially in patients with an early aggressive course 5.
- Conventional therapies for MS are based on the use of anti-inflammatory and immunomodulatory drugs, but these treatments are not able to stop the destruction of nerve tissue 3.
- Other strategies such as stem cell transplantation have been proposed for the treatment of MS 3.