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"Medical Journeys" is a set of clinical resources reviewed by doctors, meant for physicians and other healthcare professionals as well as the patients they serve. Each episode of this journey through a disease state contains both a physician guide and a downloadable/printable patient resource. "Medical Journeys" chart a path each step of the way for physicians and patients and provide continual resources and support, as the caregiver team navigates the course of a disease.

This installment: A noteworthy case study.

What caused a 23-year-old woman to suddenly develop blurred vision in one of her eyes? That's the question clinicians faced when the patient presented to a hospital ophthalmology department 5 days later.

As Jiby Mary John, PharmD, of Nazareth College of Pharmacy in Kerala, India, and colleagues explained in the , when a general physical, along with examination of her central nervous system (CNS) and motor systems returned normal results, the patient was referred for a neurological assessment.

An MRI showed "bilateral corona radiata and periventricular flair hyperintensity, with right optic neuritis" -- features that were suggestive of multiple sclerosis (MS).

Findings of the spinal MRI suggested demyelination, based on evidence of ventral and dorsal cord hypersensitivity at the C3 level, and a mild budge in the C4-5 and C5-6 discs, the authors said, adding that there was no compression of the cord and nerve roots.

Clinicians then performed a lumbar puncture and analysis of the cerebrospinal fluid, which showed normal findings except for mild lymphocytic pleocytosis. The patient was treated with pulse therapy of intravenous steroids (methylprednisolone 1 g), and the plan was to start her on fingolimod (Gilenya) after she had a varicella zoster vaccine. Fingolimod is an oral treatment for MS that works to reduce disease exacerbations, delay the progression of disability, and prevent development of new brain lesions. It works by modulating sphingosine-1 phosphate receptors and preventing immune cells from leaving the lymphoid tissue and reaching inflammatory tissue.

That plan, however, was delayed when the patient developed leg pain and numbness in her right lumbar region, so she was prescribed pregabalin (Lyrica) 75 mg daily, along with vitamin supplements.

Two months later, she returned to the hospital due to loss of sensation on the right side of her abdomen. At that point, she was admitted to the neurology department for further assessment.

MRI of the whole spine showed multifocal dorsal cord hyperintensity affecting several areas. Results also showed, the case authors reported, "diffuse disc bulge with annular tear causing anterior thecal sac indentation with moderate bilateral (L>R) subarticular and foraminal zone narrowing [L4/5 disc], and mild diffuse disc bulge causing anterior thecal sac indentation," and focal hyperintensity of the cervical cord at the tip of the dens.

About 2 months later, the patient was given her first dose of fingolimod. Within a few hours, however, she developed transient tachycardia and tachypnea, which returned to normal a few minutes later. At 6 hours post-treatment, results of an ECG were found to be within normal limits, and the patient was discharged with a prescription for fingolimod 0.5 mg OD, and her symptoms improved, John and co-authors noted.

Discussion

The prevalence of MS is increasing, affecting an estimated worldwide, according to the World Health Organization. The exact of this autoimmune disorder remain unknown, but likely involve a combination of environmental, immunologic, and genetic influences, John and co-authors said.

MS causes inflammation of the white and grey matter tissues in the CNS, which can lead to severe physical or cognitive impairments and neurological problems in young adults, with women twice as likely as men to be affected.

"The purpose of this case report is to illustrate the clinical manifestations of multiple sclerosis at the earliest stage and to show how it worsens," the team wrote. Factors theorized to play a role in disease progression include vitamin D deficiency, smoking, childhood obesity, and infection with the Epstein-Barr virus.

Typical signs and symptoms include:

• Unilateral optic neuritis or diplopia

• Trigeminal neuralgia

• Facial sensory loss or motor disturbances

• Cerebellar ataxia

• Nystagmus

• Urinary urge incontinence

• Constipation

• Erectile dysfunction

While the course of MS is "highly varied and unpredictable," it typically involves episodes of reversible neurological deficits followed by progressive neurological deterioration over time, John and co-authors noted. Their patient had relapsing–remitting MS (RRMS), which is characterized by onset in young adulthood with episodes of acute exacerbations, followed by complete or partial recovery.

In contrast, progressive MS is marked by "gradual accrual of disability independent of relapses over time," the team added. This type is considered "primary" (PPMS) when the disease worsens progressively after onset, and "secondary" when the initial relapsing-remitting disease is followed by a steady worsening.

"Fingolimod is an oral treatment for MS that works to reduce disease exacerbations, delay the progression of disability, and prevent the development of new brain lesions," John and co-authors explained. The mechanism of action involves modulation of the sphingosine-1 phosphate receptors to prevent immune cells from leaving lymphoid tissue to reach the inflammatory tissue. The agent has been proven to improve the relapse rate compared with both placebo and the current standard MS medications.

In combination with corticosteroids, fingolimod is the treatment of choice for symptom relief in individuals with RRMS; the initial dose is 0.5 mg, followed by 0.25 mg daily. After the first dose, patients need to be monitored for about 6 hours, due to the risk of bradycardia, the case authors cautioned.

They emphasized that the optimum course of treatment should be selected based on a clear understanding of the individual patient's symptoms. Options include medication, physiotherapy, and exercise, and due to MS's high prevalence, the team concluded, it is crucial to be aware of and understand the condition.

Read previous installments in this series:

Part 1: Early Diagnosis Can Mean Better Outcomes in Multiple Sclerosis

Part 2: How Does Multiple Sclerosis Start?

Part 3: The Deep and Multidimensional Connection Between Multiple Sclerosis and Depression