Case Study Analysis – Evaluate the impact of patient characteristics on disorders and altered physiology – Solution

Case Study Analysis – Evaluate the impact of patient characteristics on disorders and altered physiology

An understanding of cells and cell behavior is a critically important component of disease diagnosis and treatment. But some diseases can be complex in nature, with a variety of factors and circumstances impacting their emergence and severity.

Effective disease analysis often requires an understanding that goes beyond isolated cell behavior. Genes, the environments in which cell processes operate, the impact of patient characteristics, and racial and ethnic variables all can have an important impact.

An understanding of the signals and symptoms of alterations in cellular processes is a critical step in the diagnosis and treatment of many diseases. For APRNs, this understanding can also help educate patients and guide them through their treatment plans.

Learning Objectives

Students will:

• Evaluate cellular processes and alterations within cellular processes
• Analyze alterations in the immune system that result in disease processes
• Identify racial/ethnic variables that may impact physiological functioning
• Evaluate the impact of patient characteristics on disorders and altered physiology
  

In this Assignment, you examine a case study and analyze the symptoms presented. You identify cell, gene, and/or process elements that may be factors in the diagnosis, and you explain the implications to patient health.

The Assignment (2-page case study analysis)

Develop a 1- to 2-page case study analysis in which you:

• Explain why you think the patient presented the symptoms described.
• Identify the genes that may be associated with the development of the disease.
• Explain the process of immunosuppression and the effect it has on body systems.

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REQUIRED READING

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

• Chapter 1: Cellular Biology; Summary Review
• Chapter 2: Altered Cellular and Tissue Biology: Environmental Agents(pp. 46-61; begin again with Manifestations of Cellular Injury pp. 83-97); Summary Review
• Chapter 3: The Cellular Environment: Fluids and Electrolytes, Acids, and Bases,
• Chapter 4: Genes and Genetic Diseases (stop at Elements of formal genetics); Summary Review
• Chapter 5: Genes, Environment-Lifestyle, and Common Diseases (stop at Genetics of common diseases); Summary Review
• Chapter 7: Innate Immunity: Inflammation and Wound Healing
• Chapter 8: Adaptive Immunity (stop at Generation of clonal diversity); Summary Review
• Chapter 9: Alterations in Immunity and Inflammation (stop at Deficiencies in immunity); Summary Review
• Chapter 10: Infection (stop at Infectious parasites and protozoans); (start at HIV); Summary Review
• Chapter 11: Stress and Disease (stop at Stress, illness & coping); Summary Review
• Chapter 12: Cancer Biology (stop at Resistance to destruction); Summary Review
• Chapter 13: Cancer Epidemiology (stop at Environmental-Lifestyle factors); Summary Review

Case Study Analysis

After review and examination of the provided case study, the patient presented with symptoms that are consistent with Rhabdomyolysis. The findings in this case study that support a diagnosis of Rhabdomyolysis include substance abuse, prolonged lying down or immobility, and hyperkalemia (Cleveland, 2022). In this case study the patient has a history of substance abuse, and it is unknown if the patient used any type of substance prior to becoming unresponsive.

However, because Naloxone was used by EMS upon arrival and the patient became responsive, it can be presumed the patient had an opioid related overdose. This is presumed because Naloxone is a medication that rapidly reverses an opioid overdose and is classified as an opioid antagonist (Substance, 2022). Opioid antagonists attach to opioid receptors and reverse and block the effects of other opioids (Substance, 2022).

If an opioid overdose is suspected, Naloxone can quickly restore normal breathing to a person if their breathing has slowed or stopped because of an opioid overdose (Substance, 2022). Recreational drug use with such substances as opioids and their derivatives and amphetamines can directly result in Rhabdomyolysis (Substance, 2022).

The patient was found lying down by the roommate for an unknown amount of time. This prolonged period lying down could have led to increased compartmental pressure of the muscles in the left hip and forearm (Cleveland, 2022). Compartmental pressure occurs when pressure rises in and around the muscles (Cleveland, 2022). This can limit blood flow, oxygen, and nutrients to muscles and nerves, resulting in muscle ischemia, infarction, and necrosis by compartmental tamponade which will also cause injury to the nerves (Cleveland, 2022).

Compartmental pressure begins to develop when the tissue pressure exceeds the venous pressure and impairs blood outflow (American, 2022). Lack of oxygenated blood and the build up of waste products will result in pain and decreased peripheral sensation secondary to nerve irritation (American, 2022). This would explain the patients’ complaints of the burning pain over his left hip and forearm due to muscle necrosis.

            Patient was hyperkalemic with a serum potassium level of 6.9 mEq/L. Hyperkalemia has multiple causes, one of which includes damage to muscles (American, 2022). Muscle damage results in the release of intracellular potassium into circulation resulting in elevated serum potassium levels (American, 2022). Potassium plays a crucial role in electrical signal functioning of the hearts middle thick layer called the myocardium (American, 2022).

Increased potassium levels can interfere with proper electrical signals in the myocardium which can lead to heart arrythmias (American, 2022). As potassium levels increase, T-waves peak, and PR intervals are prolonged due to action potential duration (APD) shortening which causes more synchronous repolarization across the ventricular wall (Scalco et. al., 2015). In this case study the patients T-waves were peaked, and PR intervals were prolonged due to increased serum potassium levels.

Genetics and Rhabdomyolysis

Rhabdomyolysis is characterized by acute and often severe skeletal muscle damage which results in the release of intracellular muscle components into the blood stream resulting in myoglobinuria (Scalco et. al., 2015). A common finding with Rhabdomyolysis is increased intracellular free ionized calcium which leads to muscle cell death through the activation of harmful mechanisms such as enzymatic activation and prolonged muscle fiber contraction (Scalco et. al., 2015). These disorders include metabolic muscle disorders, mitochondrial disorders, disorders of intramuscular calcium release and excitation-contraction coupling, and muscular dystrophies (Scalco et. al., 2015).

Epigenetics is the study of how your behaviors and environment can cause changes that affect the way your genes work (Centers, 2022). Epigenetic changes do not change your DNA sequence, but they do change how your body reads a DNA sequence (Centers, 2022). Epigenetics change as you age, as part of normal development and aging as well as in response to your behaviors and environment (Centers, 2022). Epigenetics work through DNA methylation, histone modifications, and non-coding RNA (Centers, 2022). Neurobio-genetics use recent advances in genome sequencing to better understand the cause of brain and nerve disorders (Yale, 2022).

Neurobio-genetics help pinpoint genetic factors of inherited diseases and can help determine the extent to which their genetic material plays a role in their condition (Yale, 2022). Drug addiction can be woven into your DNA (Cleveland, 2022). The genetic connection between individuals and addiction is through inherited levels of dopamine which is a neurotransmitter made in the brain that acts as a “feel good” hormone (Cleveland, 2022). Because dopamine acts as a “feel good” hormone it can power poor impulse control leading individuals towards addictive type behaviors (Cleveland, 2022). Genetics merely indicate a predisposition toward addictive behaviors (Cleveland, 2022).

Specific Symptoms

The patient’s potassium is elevated due to muscle damage from lying for a prolonged amount of time. The necrotic tissue was the result of increased compartmental pressure around the trochanter and forearm due to decreased blood flow, oxygen, and nutrients to these muscles and nerves leading to necrosis of the tissues. The EKG is showing prolonged PR intervals with peaked T-waves due to the increased serum potassium affecting the electrical conduction of the myocardium resulting in an abnormal EKG.

Physiologic Response

            Hyperkalemia is significant in this case study as it was a direct result of the Rhabdomyolysis while it was also the cause of decreased electrical conduction of the myocardium resulting in prolonged PR intervals and peaked T-waves indicating an abnormal EKG. Cardiotoxicity is heart damage that arises from certain drugs (American, 2022). EKGs are essential in a suspected drug overdose as they are cardiotoxic drugs. Specific myocardial effects of cardiotoxic drugs have well-described electrocardiographic manifestations making EKGs a quick tool that can provide key pieces of information prompting early interventions (American, 2022).

Cells Involved in Rhabdomyolysis

            Rhabdomyolysis involves the muscle cells (American, 2022). When the muscle cells are damaged the myoglobin in the muscle cells leak into the blood stream causing renal toxicity (American, 2022). Due to the hyperkalemia and the effects it has on the myocardium, cardiomyocytes or the cells that make up the cardiac muscle are also involved (American, 2022). Nerve cells are involved because of muscle ischemia causing nerve damage (American, 2022). Neurons are involved in overdose death by specific receptors in the neurons being triggered that cause opioid-induced respiratory depression (The, 2021). The specific receptor is the mu opioid receptor, and these are in the brainstems breathing modulation center and these are the neurons responsible for opioid-induced respiratory depression (The, 2021).

Change in Response Related to Characteristics

            Regarding gender, it could change the response as females are less prone to suffer from Rhabdomyolysis (American, 2022). However, just because there is a lower incidence does not indicate complete rule out of Rhabdomyolysis in females (American, 2022). Genetics could play a role in a change in the response. Certain genetic disorders can increase the chances of developing Rhabdomyolysis. These include muscle diseases such as muscular dystrophy or certain metabolic or mitochondrial disorders (Cleveland, 2022). However, this case study presentation of Rhabdomyolysis occurred due to prolonged immobility related to substance use.

References

American Academy of Family Physician. (2022). Rhabdomyolysis.

https://www.aafp.org/pubs/afp/issues/2002/0301/p907.html

Centers for Disease Control and Prevention. (2019). Rhabdomyolysis.

https://www.cdc.gov/niosh/topics/rhabdo/default.html

Cleveland Clinic. (2022). Rhabdomyolysis.

https://my.clevelandclinic.org/health/diseases/21184-rhabdomyolysis

Substance Abuse and Mental Health Services Administration. (2022). Naloxone.

https://www.samhsa.gov/medication-assisted-treatment/medications-counseling-related-conditions/naloxone

The Salk Institute for Biological Studies. (2021). Researchers identify neurons involved in

overdose deaths. https://www.salk.edu/news-release/researchers-identify-neurons-involved-in-overdose-deaths/

Scalco, R. S., Gardiner, A. R., Pitceathly, R. D., Zanoteli, E., Becker, J., Holton, J. L., Houlden

H., Jungbluth, H., & Quinlivan, R. (2015). Rhabdomyolysis: a genetic perspective. Orphanet Journal of Rare Diseases, 10(51). https://doi.org/10.1186/s13023-015-0264-3

Yale Medicine. (2022). Neurogenetics.

https://www.yalemedicine.org/conditions/neurogenetics

Cellular In this scenario, a 27-year-old patient with a substance abuse history was found unresponsive after an unknown amount of time by his roommate who called emergency medical services (EMS). The EMS team used naloxone which revived the patient. He started to complain about burning pain in his left forearm and left hip. After arriving in the ER, it was discovered that he had a large amount of necrotic tissue on the forearm and greater trochanter. An electrocardiogram (EKG) showed peaked T waves and prolonged PR waves which are indicative of hyperkalemia. His serum potassium level 6.9mEq/L.  

            In breaking down the scenario to determine the diagnosis, the substance abuse is opioid-related due to the positive reaction from the naloxone. According to NIH, naloxone has no effect on someone who does not have opioids in their system. (National Institute of Health, 2022, para 1). Opioid use alone causes damage to many cells. The patient’s necrotic areas on the forearm and greater trochanter, at some point, were inflamed which progressed to necrosis. Knowing there is a history of drug abuse, and with the roommate not being constantly available, it is hard to determine how long he was really laying there.  The patient could have been drug-induced for days lying on the left side to create that necrotic tissue.  

            The process taken to create the necrosis begins at the cellular level. The cell injury and death, in this case, were caused by an outside factor of drug overdose and hypoxia. The injury initially begins as a mast cell that is damaged and releases histamine which swells capillaries (vasodilation), then chemokines are release that act as a messenger to attract phagocytes (leukocytes) to the area of inflammation to immediately begin the healing process (Khan, 2010).

Even though the area is trying to heal itself the continuous damage that affects adenosine triphosphate (ATP) depletion, mitochondrial damage, DNA damage, altered calcium, and accumulation of oxygen-derived free radicals, continue to injure the cell and if not treated cause cell death (McCance, & Huether, 2019, p. 51). The burning pain that the patient felt is the response from the damaged cells, nerves, and tissue surrounding the necrotic areas and he felt it due to the immediate reversal from the naloxone treatment. The opioid effect may have been how he did not notice the inflamed areas, and when the opioid receptors are stimulated they suppress the sensation of pain (Schiller, Goyal, & Mechanic, 2022, para 4).  

            Another factor that caused the necrotic area was the hypoxic reaction from the pressure he placed on the forearm and hip from the actual drug abuse. Hypoxia creates an immense amount of cellular damage due to how a human will not function well if at all without a sufficient supply of oxygen. The cell reaction to hypoxia reduces cell respiration and energy by decreasing mitochondrial phosphorylation (insufficient ATP production) in which the calcium and sodium exchange fails to force them back into the cell releasing potassium into the extracellular fluid (ECF) (McCance & Huether, 2019, p.51).

It appears with this information the patient could have had several hypoxic events over time that it continued to cause such an extensive amount of damage over some time. The failure of the sodium-potassium pump prevents the calcium-sodium exchange that caused hyperkalemia. In the scenario, the patient’s level of potassium was high due to the large area of necrosis that caused the potassium to leak into the cellular fluid.

A sign of hyperkalemia is peaked T waves and prolonged PR interval (McCance & Huether, 2019, p. 118). The EKG is necessary because it can show signs of electrolyte imbalance, heart failure, significant arrhythmias, and ischemia, and has faster results than the laboratory. A patient who has a drug overdose can cause an imbalance with ion channels of potassium, calcium, and sodium that causes cardio effect on the myocardium membrane, in which an EKG will show significant changes that could be life-threatening (Yates & Manini, 2012).

            All cells in our system have an important role and function. As seen in the small scenario, one misstep will cause major damage and potential loss of life.  The process of discovering exactly what happened and how this person was found would be questioning the roommate and speaking with the patient.

References

Khan Academy (2010, February 24). Inflammatory response | Human anatomy and physiology  | Health & medicine [Video file]. Retrieved from            https://www.youtube.com/watch?v=FXSuEIMrPQk  

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Schiller, E.Y., Goyal, A., Mechanic, O.J. Opioid Overdose. [Updated 2022 May 9]. In:     StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Retrieved    from:  https://www.ncbi.nlm.nih.gov/books/NBK470415/  

U.S. Department of Health & Human Services.(2022, January). National Institute on Drug Abuse | Naloxone Drug Facts. Retrieved from:  https://nida.nih.gov/publications/drugfacts/naloxone

Yates, C., & Manini, A. F. (2012). Utility of the electrocardiogram in drug overdose and poisoning: theoretical considerations and clinical implications. Current cardiology reviews, 8(2), 137–151. https://doi.org/10.2174/157340312801784961 Retrieved from:             https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406273/

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Related FAQs

1. What is pathophysiology and physiology?

Pathophysiology is the field of study that converges on pathology and physiology. Physiology is a field of study that explains the various biological mechanisms that operate within an organism. Pathology is another discipline that explores conditions associated with a disease.

2. What is physiology of a disease?

Pathology is the medical discipline that describes conditions typically observed during a disease state, whereas physiology is the biological discipline that describes processes or mechanisms operating within an organism.

3. What is the clinical description of a disease?

Clinical disease: A disease that has recognizable clinical signs and symptoms, as distinct from a subclinical illness, which lacks detectable signs and symptoms. Diabetes, for example, can be a subclinical disease for some years before becoming a clinical disease.

4. What are the 4 components of pathophysiology?

Pathophysiology includes four interrelated topics: etiology, pathogenesis, clinical manifestations, and treatment implications. Etiology refers to study of the proposed cause or causes of a particular disease process.

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