Multiple Sclerosis, Diagnostic Tests and Labs Diseases

Introduction and Patient Background Information

Growing up, I can recall my aunt suddenly falling ill and being cared for by other family members. At the time, I was too young to understand the problem thoroughly. Now, as an adult and nursing student, I have had the opportunity to take classes that have increased my knowledge regarding the human body and various diseases. For this assignment, I utilized my aunt, who I will refer to as S.R. Around the time of her diagnosis, she was a 34-year-old African American female.

She was generally healthy, with no family history of neurological or autoimmune diseases. However, S.R. had struggled with cocaine abuse on and off for over fifteen years. She was once again using drugs shortly before the onset of symptoms. My aunt loved to cook, but started to experience vision problems, fatigue, weakness, and decreased motor function. The symptoms she was experiencing interfered with her ability to complete daily tasks independently. In the following pages, I will discuss the various aspects of her diagnosis: multiple sclerosis (M.S.). Etiology and Risk Factors According to Nettina and the Lippincott Manual of Nursing Practice, MS "is a chronic, frequently progressive neurologic disease of the central nervous system (CNS) of unknown etiology and uncertain trajectory."

The risk factors associated with multiple sclerosis are thought to be a combination of genetic and environmental factors. Clients with M.S. who have first-degree relatives have seven times the general population's risk. Several major histocompatibility complex alleles have also been identified that are associated with increased risk (Schub & Avital, 2017). Possible environmental risk factors "include smoking, vitamin D deficiency, and Epstein-Barr virus multiple sclerosis three infections" (Huether, McCance, Brashers, & Rote, 2017, p. 411). Of the risk factors above, I am only aware that S.R. smoked cigarettes regularly. Incidence and Prevalence Schub and Avital indicate that multiple sclerosis affects an estimated 2.1 million people worldwide. Estimates suggest that the disease affects 400,000 people in the United States.

The incidence of M.S. increases with increasing distance from the equator. The onset of M.S. usually occurs between the ages of twenty and forty (Huether, McCance, Brashers, & Rote, 2017, p. 411). "The condition affects women more than twice as often as men, but men tend to have a worse prognosis" (Schub & Avital, 2017, paragraph 4). S.R. was diagnosed with the disease around age 34; she was within the appropriate age range. She is also female, the gender more commonly affected by MS. Pathophysiology According to Lewis, Dirksen, Heitkemper, & Bucher, the three characteristics of M.S. include chronic inflammation, demyelination, and scarring within the CNS. An autoimmune process causes activated T cells to migrate to the CNS by crossing the blood-brain barrier. Antigen-antibody reactions then initiate the inflammatory response, leading to axon demyelination. Attacks on the myelin sheaths of the neurons in the brain and spinal cord cause damage to the myelin sheath. The nerve fiber is not affected initially, and nerve impulses continue to occur with slowed transmission.

When myelin can regenerate, the symptoms of M.S. disappear, and the client is said to be in remission. As inflammation repeatedly occurs, oligodendrocytes are affected, and myelin eventually loses the ability to regenerate. When damage occurs to the axon nerve fiber, impulse transmission is disrupted, and permanent loss of nerve function results. When the inflammation stops, scar tissue replaces the damaged tissue. This then leads to the formation of plaques (Lewis, Dirksen, Heitkemper, & Bucher, 2014). There are four types of multiple sclerosis. Relapsing-remitting MS (RRMS) affects roughly eighty-two percent of patients with MS. It is characterized by "clearly defined relapses with full recovery or sequelae and residual deficits on recovery" (Lewis, Dirksen, Heitkemper, & Bucher, 2014, p. 1428). Of those affected with RRMS within ten years, fifty-five to eighty-five percent of patients will progress to secondary progressive rheumatoid syndrome (SPRS). It is characterized by "a relapsing-remitting initial course, followed by progression with or without occasional relapses, minor remissions, and plateaus" (Lewis, Dirksen, Heitkemper, & Bucher, 2014, p. 1428).

Progressive-progressive syndrome (PPMS) affects about 10 percent of patients. It is characterized by "slowly worsening neurologic function from the beginning with no distinct relapses or remissions" (Lewis, Dirksen, Heitkemper, & Bucher, 2014, p. 1428). Finally, we have progressive-relapsing MS (PRMS); this type of MS affects roughly five percent of patients. PRMS is progressive from the onset, with clear acute relapses, with or without full recovery. The periods between relapses are characterized by continuing progression (Lewis, Dirksen, Heitkemper, & Bucher, 2014). Based on the aforementioned criteria, I would hypothesize that S.R. had either PPMS or PRMS. From what I can recall and with information gathered from other family members, she experienced a steady decline from the onset of the disease. She went from being able to walk to needing a walker, from using a wheelchair to being completely bed-bound. I can recall S.R. attending family functions within the last few years of her life. In my head, I can still see her struggling to keep her head up. We had to feed S.R. as the disease progressed, as she could not do it herself.

I remember being able to have long conversations with her at one time, and then suddenly, she could not articulate in a way that others could comprehend.

Five signs and symptoms of multiple sclerosis can vary based on the location of lesions and can change throughout the progression of the disease. Sensory deficits may include numbness or tingling in any part of the body, impaired position, vibratory sensation, hypersensitivity to touch, and pain. Individuals with M.S. may experience visual disturbances such as loss of vision, double vision, or involuntary eye movements that can reduce or limit vision. Bowel symptoms can include constipation or fecal incontinence, and urinary symptoms can consist of urgency, frequency, and incontinence. M.S. can cause impotence in men. Motor deficits can consist of deep tendon hyperreflexia, diminished cremasteric reflex in men, tremors, clonus, poor coordination, the presence of Babinski's reflex and Hoffman's sign, spasticity, ataxia, fatigue, dizziness, diminished muscle strength, heat intolerance, impaired speech, and dysphagia. Cognitive and psychological symptoms include poor memory and attention span, dementia, anxiety, and depression (Schub & Avital, 2017). My aunt experienced a number of these signs and symptoms; her symptoms changed and increased in number as the disease progressed. She experienced hypersensitivity to touch, often screaming in pain when we repositioned her. She suffered from vision loss and frequently requested us to "come closer." Eventually, she experienced urinary and bowel incontinence, tremors, spasticity, ataxia, fatigue, dizziness, decreased muscle strength, impaired speech, dysphagia, and depression. I can also distinctly recall how heat negatively affected my aunt. One summer, the air conditioning went out in her house, and we had to try everything possible to keep her calm so her symptoms wouldn't worsen.

Diagnostic tests and labs

Several options are available to assist with the diagnosis of MS. These include the analysis of cerebrospinal fluid to measure elevated immunoglobulins, myelin debris, and protein levels. Serum levels of Vitamin B-12, Vitamin D, Vitamin E, copper, and zinc can be analyzed in order to rule out deficiencies as the cause of any neurological symptoms a patient may be experiencing. A complete blood count can be done to rule out infection or anemia as the cause of any deficits. To exclude renal complications, a doctor may order kidney function tests such as serum creatinine, blood urea nitrogen, and a urinalysis. MS can also be diagnosed with the assistance of Magnetic Resonance Imaging (MRI) or Computerized Tomography (CT) scans. These may indicate plaques and scarring in the CNS (Schub & Avital, 2017). Diagnosis can also include visual-evoked potential, brainstem auditory-evoked potential, and sensory-evoked potential tests. These tests may indicate the slowing of nerve impulses, which is a sign of the demyelination of nerves (Multiple Sclerosis New Zealand, 2017). Unfortunately, I am not aware of the specific diagnostic tests or labs utilized to diagnose my aunt's condition.

Treatment: Currently, there is no known cure for MS. The goal of treatment is to manage symptoms and provide relief. As stated by Lewis, Dirksen, Heitkemper, & Bucher, "since no two cases of MS are alike, therapy is tailored specifically to the disease pattern and manifestations that each patient is experiencing." The medications used to treat multiple sclerosis are designed to slow the disease's activity and progression, lessen the severity and duration of exacerbations, and treat individual symptoms (Multiple Sclerosis Association of America, 2018). These medications may include corticosteroids, immunosuppressants, and immune system modulators (Huether, McCance, Brashers, & Rote, 2017).

To assist with symptom management, a variety of medications may be prescribed. Other treatment options can include rehabilitation through physical therapy, occupational therapy, and speech therapy (Schub & Avital, 2017). In addition to various medications, my aunt greatly benefited from physical and occupational therapies. Here, we were taught many crucial skills, including proper positioning, energy conservation techniques, range of motion exercises, and how to use adaptive equipment.

EPB Precision Medicine: Given that the precise cause of MS remains unknown, there is significant ongoing research into the condition. Some promising developments include the fact that, "based on encouraging results from various studies, clinical trials are now starting to enroll people using three broad classes of stem-cell-based approaches" (Multiple Sclerosis Association of America, 2018, paragraph 1).

These studies are not without risks, and in a few clinical trials, death and suicide have been reported as "adverse events" (Multiple Sclerosis Association of America, 2018, paragraph 7). According to Schub & Avital, patients with M.S. often seek care from clinicians who practice therapy that is not focused on traditional medical treatment. Thirty-three to eighty percent of individuals with M.S. report using one or more components of alternative therapy, commonly referred to as Complementary and Alternative Medicine (CAM). CAM includes therapies such as acupuncture, massage, and naturopathic medicine, which involves strategies related to diet, vitamins, herbal products, exercise, and lifestyle changes (Schub & Avital, 2018). In a 2015 study, 77 percent of participants reported using CAM the previous year. Eighty-nine percent used vitamins and minerals, forty-four percent used nonvitamin, nonmineral and natural products, thirty-three percent used relaxation techniques, and thirty percent used special diets (Schub & Avital, 2018). Another CAM therapy being researched is the use of marijuana.

Currently, there is insufficient evidence to assess the safety or efficacy of cannabis in patients with M.S. (National Multiple Sclerosis Society, n.d.). The prognosis of M.S. varies from one individual to the next. It depends on the type of M.S. an individual has and on several other factors that can be either favorable or unfavorable. Favorable factors include things such as being female, a low rate of relapses per year, complete recovery from the first attack, a long interval between the first and second attacks, symptoms predominantly from afferent systems, and a younger age at onset (Rose, Houtchens & Lynch, n.d.).

Unfavorable factors include being male, having a high rate of relapses per year, an incomplete recovery from the first attack, a short interval between the first and second attacks, symptoms predominantly from efferent systems, and older age at onset (Rose, Houtchens & Lynch, n.d.). Common causes of death in M.S. are "secondary complications resulting from immobility, chronic urinary tract infections, and compromised swallowing and breathing" (Rose, Houtchens, & Lynch, n.d., paragraph 3). These secondary complications include pneumonia, pulmonary embolism, aspiration pneumonia, urosepsis, and pressure ulcers (Schub & Avital, 2017). S.R. died in 2006 at the age of 44. As a nurse caring for a patient with M.S., it is important to consider the symptoms they experience. The various medications they may take to treat M.S. have side effects.

I must ensure that the patient and caregivers know these side effects, drug interactions, and proper medication administration. With a loss of motor function, safety will be another concern. I would ensure the floor is clutter-free and that the right assistive devices are available and correctly utilized. I would also inform the patient, caregivers, and family members about functional support groups and community resources. In conclusion, I have learned a lot after gathering the information needed for this case study. Since MS affected my aunt long ago, memories and access to information were compromised. I believe that although several years have elapsed, this research was necessary. Based on the information I collected, my aunt has a daughter who may be at a higher risk of also developing MS. I am glad that I have had the opportunity to research things further and clear up some misconceptions voiced by my family about the disease they thought they knew.

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