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Autoimmunity Case Study

Project Overview

Project Description

Create a case study on the autoimmune disease that your group has been assigned.  Your case study could be based on a real one that you find in the medical literature, or on the web. Alternatively, your case could be a hypothetical one that you have created in order to illustrate some important medical concepts. The basic format of the case is as follows:

The Introduction or Background section should briefly explain the background of the disorder and its clinical presentation. This section is meant to give an introduction to the case report from the standpoint of those without specialist knowledge in the area, clearly explaining the background of the topic. This section should be no longer than 100 words.

The Case Presentation section should present all relevant details concerning the case including a description of the patient’s relevant demographic information; any relevant medical history of the patient; the patient's symptoms and signs; any tests that were carried out and a description of any treatment or intervention. This section may be broken into subsections with appropriate subheadings using Scholar’s structure tool (Creator => About this Work => Structure, see Tutorial 3.5 in the Help area, link in the top right of the screen). Images or other visual media (e.g. videos) are encouraged.

The case presentation should be described in a concise and chronological order. One should usually begin with the primary complaint, salient history (including significant family, occupational, and other social history along with any significant medications taken or allergies), followed by the physical examination, starting with the vital signs presented at the examination, along with pertinent investigations and results. There should be enough detail (but not too much) for the reader to establish his or her own conclusions about the validity. It should contain only pertinent information and nothing superfluous or confusing. This section should be no longer than 300 words.

This Patient’s Perspective section is an opportunity to add a description of a case from the patient’s perspective. This section might include what originally made the patient seek medical advice, a description of their symptoms from their perspective, whether the symptoms were better or worse at different times, how tests and treatments affected them, and how the problem is now. As medicine becomes more person-centered, the voice of the individual patient becomes even more important, both to assist in clinical decision making, and for medical education. This section should be no longer than 200 words.

This Discussion section should state clearly the main conclusions of the case report and give a clear explanation of their importance and relevance. Information should be included on how the case is typical or atypical of a particular disease etiology or treatment. Most importantly, this section should briefly describe the immunopathologic basis of the disease and how this might drive the symptoms, clinical presentation and rationale for the treatment. Images/diagrams are encouraged. New scientific or clinical information that is emerging to aid current and future physicians in the diagnosis and treatment can also be included here. This section should be no longer than 200 words.

How to Create this Work

This is going to be a jointly created work which should be split among different members of the group. The Case Presentation section (see above) represents the foundation which should be developed first since the other sections build off of this. The following are some important instructions on how to create and work in a jointly created work.

  1. Everyone will receive a work request for this project. One person in the group should take the link, then go to Creator => About This Work => Creators and invite the other members to be co-creators. Now, everyone will be working in the same space.
  2. Scholar only allows one person to work in an element (or section) at a time. When another person is working in an element, it is locked to the co-creators. So in order to have multiple people working at the same time, we suggest that an early task should be to go to the Structure tool to create subheadings and sections (Creator => About this Work => Structure, see Tutorial 3.5 in Help).
  3. To discuss the work among the co-creators, use the Dialogue tool: Creator => Project => Dialogue.
Icon for Multiple Sclerosis Case Study

Multiple Sclerosis Case Study

Introduction

Multiple sclerosis (MS) is an autoimmune disease of unknown etiology, in which the immune system attacks the myelin sheath of nerve fibers. This makes signal transduction difficult, leading to communication problems between the brain and rest of the body.  Ultimately, the nerves themselves deteriorate (Figure 1).

Figure 1. Multiple sclerosis causes demyelination of patient’s nerves, which decreases communication between the central and peripheral nervous systems. (Genetics Home Reference, National Health Institute)

Early symptoms of MS related to acute demyelination include:

  • bowel problems, including constipation or stool leakage
  • eye problems, including double vision or eye discomfort
  • muscle problems, including difficulty walking or problems with coordination, twitching, tingling, numbness, and pain in certain areas of the body
  • sexual problems (e.g. impotence) in both men and women

Later indicators of MS vary widely and depend on the number and specificity of nerves damaged. The course of symptoms occurs in two main patterns initially: either as episodes of sudden worsening that last a few days to months (called relapses, exacerbations, bouts, attacks, or flare-ups) followed by improvement (85% of cases) or as a gradual worsening over time without periods of recovery (10-15% of cases). A combination of these two patterns may also occur, or people may start in a relapsing and remitting course that then later becomes progressive.

While there are no cures for MS, treatment can help speed recovery from attacks, modify the course of the disease, and manage symptoms [1,2].

 

Case Presentation

Ms. C is a 25 year old white female, who came into the Neurology Clinic for evaluation of multiple long-term complaints. She described worsening heat intolerance that precipitates a stumbling gait, tendency to fall, decreased visual acuity, difficulty holding objects in her hands, significant tremors, exhaustion, and arthralgia. The patient then abruptly developed a right hemisensory deficit after several days of work. An MRI scan was performed at that time and revealed a multifocal white matter disease, indicating damage to white matter (myelinated) areas of the CNS. Spinal tap revealed the presence of oligoclonal bands, immunoglobulins indicative of inflammation CNS. Blood work did not reveal any oligoclonal bands. The presence of oligoclonal bands in the cerebrospinal fluid accompanied by the lack of any in her blood is suggestive of multiple sclerosis. Visual evoked response testing was abnormal with slowed conduction in optic nerves, indicating damage to this neural pathway.

Today, the patient remains weak and numb on the right side, has impaired urinary bladder function which requires multiple voids in the mornings, and urination three times per night. She became incontinent and now has to wear a diaper during the day. She also has persistent balance problems, with some sensation of spinning and is extremely fatigued.

REVIEW OF SYSTEMS is significant for a number of problems related to her suspected MS, especially in the neurological exam. The patient has a tendency to aspirate liquids and also solids, indicating lesions to nerves involved in deglutition. She complains of tinnitus which is continuous and associated with hearing loss, more prominent on the left. She has decreased finger dexterity and weakness of the hands bilaterally. She also complains of impaired short-term memory and irritability.

FAMILY HISTORY is significant for high blood pressure, cancer, and heart disease in the immediate family. There is no indication of MS, however.

PERSONAL HISTORY is significant for mumps and chickenpox as a child, anemia, and allergies with hives later in life. She also had a tubal ligation. None of her personal history is indicative of MS.

NEUROLOGIC EXAMINATION: She exhibits decreased hearing on the left, and numbness in the right face, which extends down into the entire right side. The Weber test, which tests for conductive and sensorineural hearing loss, reveals greater conductance to the right (indicative of hearing deficits in the left hear). Rinne's test reveals air greater than bone bilaterally, which indicates normal conductive (mechanical) hearing. Therefore, her hearing deficits are probably a result of sensorineural damage. The palate elevates well. Swallowing appears to be intact. Tongue movements are slowed, but tongue power appears to be intact.

Motor examination reveals relatively normal strength in the upper extremities throughout. However, rapid alternating movements are decreased in both upper extremities and the patient has dysdiadochokinesia (impaired ability to perform rapid, alternating movements) in the left hand. Mild paraparesis (partial paralysis) is noted in both legs without severe spasticity.

Deep tendon reflexes are +2 and symmetrical in the arms (normal), +3 at the ankles and at the knees (normal). Bilateral extensor toe sign are present (normal). Romberg's test is negative (normal). These results indicate normal function in different areas of her peripheral nervous system.

Sensory exam reveals paresthesia (abnormal sensation) on the right to touch and decreased pin sensation on the right diffusely. The patient has mild vibratory sense loss in the distal lower extremities. These results are likely the result of decreased axon conductance due to demyelination.

Tandem gait is mildly unstable. Ambulation index is 7.0 seconds for 25 feet (i.e., the patient takes 7.0 seconds to walk 25 feet), which indicates motor deficits (normal is closer to 0). 

Patient’s Perspective

Over multiple years, the patient has noticed some significant changes in neurologic functions, particularly heat intolerance precipitating a stumbling gait and a tendency to fall. Her visual acuity also seemed to change periodically during several years.

Two months ago the patient was working very hard and was under a lot of stress. She fell ill with a flu and her neurologic condition worsened. At that time, she could not hold objects in her hands, had significant tremors and severe exhaustion. She also had several bad falls. Since that time, she had noticed arthralgia (joint pain) on the right and then on the left side of her body. Then, the patient abruptly noticed a lack of feeling on the right side of her body after several days of work.

After her doctor's visit, Ms. C was prescribed intravenous (IV) corticosteroids to minimize her symptoms. She was also started on physical therapy to help maintain strength in areas that demonstrated motor deficits. She was informed by her physician that, unfortunately, there was no current treatment for MS but that there are experimental drugs on the market that she may try that could possible reduce the severity and number of symptomatic attacks.

Discussion

MS is characterized by inflammation, neurodegeneration, and the inability of the CNS to remyelinate (Figure 2). Normally, the blood-brain-barrier (BBB) prevents immune cells from accessing the CNS parenchyma. In MS, immune cells infiltrate the BBB and access the CNS parenchyma, where they target and degrade the myelin sheath in white matter [3]. This process is initiated by the infiltration of dendritic cells, which then induce differentiation of memory T cells into Th1 and Th17 lymphocytes. Macrophage and microglial cell activation leads to the release of pro-inflammatory cytokines and reactive oxygen species, leading to demyelination of CNS white matter. Oligodendrocytes, normally involved in remyelination of CNS axonal tracts, have also been shown to be targeted in patients with MS. Currently, it is not clear how immune cells access the CNS in patients with MS.

Figure 2. The role of the blood brain barrier (BBB) in multiple sclerosis: Dendritic cells are able to cross the BBB in multiple sclerosis and activate T cells to cause demyelination of white matter in the CNS. (Hemmer et al. Nat Rev Neurosci. 2002)

Current therapies involve minimizing the effects of inflammation in the CNS. For example, IV corticosteroids are often used to alleviate symptomatic attacks of the disease. There have also been recent developments into disease-modifying drugs that are modestly effective at reducing the number of attacks in patients with the relapsing remittent form of the disease. These drugs primarily function by modifying the immune response [4]. However, there is no effective treatment for the disease, and the average life expectancy is usually around 30 years from the start of the disease.

Ms. C had no past medical history significant for MS. Infections, smoking, and stress are thought to be factors that may contribute to the disease. MS is not considered a hereditary disease; however, a number of genetic variations have been shown to increase the risk. Mrs. C had no family history of the disease, though.

Most commonly, the lesions present in the optic nerves, brainstem, and spinal cord. Ms. C’s condition is consistent with the pathophysiology of the disease, as she is exhibiting vision, motor-sensory, and memory deficits. In addition, her right-side deficits could be caused by a lesion of the brainstem or spinal cord.

References:

[1] Goodwin SJ. Multiple sclerosis: integration of modeling with biology, clinical and imaging measures to provide better monitoring of disease progression and prediction of outcome. Neural Regen Res. 2016;11(12):1900-3.

[2] Gray O, McDonnell GV, Forbes RB. Intravenous immunoglobulins for multiple sclerosis. Cochrane Database Syst Rev. 2003;(4):CD002936. Review.

[3] Hemmer B, Archelos JJ, Hartung HP. New concepts in the immunopathogenesis of multiple sclerosis. Nat Rev Neurosci. 2002;3(4):291-301.

[4] He D, Zhang C, Zhao X, Zhang Y, Dai Q, Li Y, Chu L. Teriflunomide for multiple sclerosis. Cochrane Database Syst Rev. 2016 Mar 22;3:CD009882.

Case study adapted from: http://library.med.utah.edu/kw/ms/clin_case01.html