A 27-year-old patient with a history of substance abuse is found unresponsive by emergency
Discussion: Alterations in Cellular Processes
At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.
Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.
For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts.
- By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
Scenario 4: A 27-year-old patient with a history of substance abuse is found unresponsive by emergency medical services (EMS) after being called by the patient’s roommate. The roommate states that he does not know how long the patient had been lying there. Patient received naloxone in the field and has become responsive. He complains of burning pain over his left hip and forearm. Evaluation in the ED revealed a large amount of necrotic tissue over the greater trochanter as well as the forearm. EKG demonstrated prolonged PR interval and peaked T waves. Serum potassium level 6.9 mEq/L.
By Day 3 of Week 1
Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
- The role genetics plays in the disease.
- Why the patient is presenting with the specific symptoms described.
- The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
- The cells that are involved in this process.
- How another characteristic (e.g., gender, genetics) would change your response.
Expert Answer and Explanation
Alterations in Cellular Process
Role of Genes in the Disease
According to a study done by McCance and Huether (2019), genetic variables contribute to the commencement of addictive substances and change from use to addiction. The authors also note that 40 to 60% of one’s vulnerability to substance use is accounted for by genetic factors. Another research by Muro (2018) found that PSD-95 is a specific protein gene that connects learning, memory, and addiction. The researchers also found that mice with a low rate of PSD-95 could not find their way out of the maze easily and were highly sensitive to cocaine.
The study also found that a higher amount of PSD-95 gene made mice more sensitive to alcohol, nicotine, heroin, and morphine. Another gene that is responsible for addiction is the DARPP-32 gene. Abbasian, Lockington, Megharaj, and Naidu (2016) report that when DARPP-32 was extracted from mice, it failed to respond to hard drugs. Therefore, the 27-year-old is addicted to drugs because he inherited either DARPP-32 or PSD-95 from his family.
Reasons for Presenting Described Symptoms
Opioid overdose may cause effects, such as slow breathing, blue skin from poor blood circulation, small pupils, respiratory failure, lessened alertness, confusion, and loss of consciousness. This patient was unresponsive because he may have used opioid drugs in excess. The former is evident because he became responsive after receiving naloxone treatment. Naloxone is a non-addictive medication used to treat patients with opioid overdose to neutralize life-threatening depression of the respiratory system and central nervous system to allow the patient to regain normal breathing (Zhang, 2019).
The medication only works when one’s body has opioid substances. The burning pain is the side effect of naloxone. The presence of necrotic tissue on the forearm and greater trochanter was due to fall when the patient was unconscious.
The physiological response is an involuntary reaction triggering a physical response to stimuli. An example of a physiologic response is fight or flight response. The physiological response can manifest itself through shaking, dry mouth, faster breathing, sweating, panic attacks, and heart palpitations. Abbasian et al. (2016) mention that one of the physiological responses to opioids is slowing the functions of the GI tract. Opioids may slow down the GT tract’s functioning by inhibiting the release of acetylcholine from the motor neurons.
As a result, the victim may experience low excretion. Other physiological responses to opioid include dilatation of pupils, increased breathing, heart rate changes, and blood pressure, sweating, changes in body temperature and skin, and piloerection (Liu & Tang, 2020).
Various cells are involved in physiological response. Dark, clear, and myoepithelial sweat cells are some of the cells involved in the process. When one feels the urge to abuse opioids, the brain will send a message to the cells above to produce sweat as a response. Other cells involved in the process are brown adipose tissue (BAT) and thermogenesis. These cells will either increase or reduce body temperature to respond to the urge to abuse opioids. The neurons in the hindbrain known as medulla and pons are the cells that regulate how one will breathe in the response of opioid stimulus (Liu & Tang, 2020). Overall, all these cells must be coordinated by the central nervous system.
How another Factor can Influence the Response
Genes will change how one response to opioids. For instance, a person with either DARPP-32 or PSD-95 will show physiological response symptoms when presented with opioids while the individual without the genes will not show any signs.
Abbasian, F., Lockington, R., Megharaj, M., & Naidu, R. (2016). A review on the genetics of aliphatic and aromatic hydrocarbon degradation. Applied biochemistry and biotechnology, 178(2), 224-250. https://link.springer.com/article/10.1007/s12010-015-1881-y
Liu, N., & Tang, M. (2020). Toxic effects and involved molecular pathways of nanoparticles on cells and subcellular organelles. Journal of Applied Toxicology, 40(1), 16-36. https://onlinelibrary.wiley.com/doi/full/10.1002/jat.3817
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
Muro, S. (2018). Alterations in cellular processes involving vesicular trafficking and implications in drug delivery. Biomimetics, 3(3), 19. file:///C:/Users/OnamMagy/Downloads/biomimetics-03-00019-v3.pdf
Zhang, W. C. (2019). U.S. Patent No. 10,287,296. Washington, DC: U.S. Patent and Trademark Office. https://patents.google.com/patent/US10287296B2/en
Definition of rhabdomyolysis
Rhabdomyolysis is a medical condition characterized by the breakdown of skeletal muscle tissue, which releases substances into the bloodstream that can be harmful to the body. This condition can be caused by various factors such as direct muscle injury, inherited muscle disorders, drugs and toxins, and other medical conditions.
The breakdown of muscle tissue can lead to the release of myoglobin, creatine kinase, and other muscle enzymes into the bloodstream, which can cause a variety of symptoms and potentially serious complications. Some of the common symptoms of rhabdomyolysis include muscle pain, weakness, and stiffness, dark-colored urine, fatigue, and confusion or disorientation.
Treatment typically involves addressing the underlying cause of the condition, such as providing fluids and electrolytes, managing kidney function, and sometimes, medications to help manage symptoms. It’s important to seek medical attention promptly if you suspect you may have rhabdomyolysis, as early diagnosis and treatment can help prevent serious complications.
Prevalence and incidence rates
The prevalence and incidence rates of rhabdomyolysis vary depending on the population being studied and the underlying causes of the condition. However, rhabdomyolysis is generally considered to be a relatively rare condition. In the United States, the incidence of rhabdomyolysis is estimated to be around 26,000 cases per year.
The prevalence of rhabdomyolysis is also higher among certain groups, such as athletes, military personnel, and individuals who engage in high-intensity exercise. Some studies have suggested that the incidence of rhabdomyolysis may be increasing due to factors such as an increase in the use of statin medications and the popularity of high-intensity exercise programs. However, more research is needed to fully understand the prevalence and incidence rates of rhabdomyolysis across different populations and settings.
Importance of awareness about rhabdomyolysis
Awareness about rhabdomyolysis is important for several reasons. First, rhabdomyolysis can lead to potentially serious complications, such as kidney failure, and prompt diagnosis and treatment can help prevent these complications. Early recognition and management of rhabdomyolysis can also help prevent long-term muscle damage and weakness. Additionally, certain groups of people, such as athletes, military personnel, and individuals who engage in high-intensity exercise, may be at higher risk for developing rhabdomyolysis, and awareness about the condition can help these individuals take steps to reduce their risk.
Another reason why awareness about rhabdomyolysis is important is because the condition can be caused by a variety of factors, such as direct muscle injury, medications, and medical conditions, and it can present with a wide range of symptoms. As a result, it can be difficult to diagnose without a high degree of suspicion and thorough medical evaluation. Educating healthcare providers, as well as the general public, about the signs and symptoms of rhabdomyolysis can help ensure that the condition is recognized and treated promptly.
Finally, raising awareness about rhabdomyolysis can help promote research into the condition, which can improve our understanding of the causes, risk factors, and treatments for the condition. This can ultimately lead to better outcomes for individuals who develop rhabdomyolysis.
Causes of rhabdomyolysis
There are various causes of rhabdomyolysis. Here are some of the main categories:
Direct muscle injury:
This is the most common cause of rhabdomyolysis. Any traumatic event that damages the muscles, such as a crush injury, severe burns, electrical shock, or a car accident, can cause muscle breakdown and release of muscle proteins into the bloodstream.
Inherited muscle disorders:
There are certain inherited muscle disorders, such as muscular dystrophy and McArdle’s disease, that can increase the risk of developing rhabdomyolysis. These conditions affect the structure or function of muscles, making them more susceptible to breakdown.
Drugs and toxins:
Certain medications and toxins can also cause rhabdomyolysis. Some of the medications that have been associated with rhabdomyolysis include statins, which are commonly used to lower cholesterol, and certain antipsychotic medications. Illicit drugs such as cocaine and amphetamines can also cause rhabdomyolysis. Other toxins that can cause rhabdomyolysis include alcohol, carbon monoxide, and venom from snake or insect bites.
There are several other medical conditions that can lead to rhabdomyolysis, such as infections (e.g., influenza, sepsis), metabolic disorders (e.g., hypothyroidism, diabetic ketoacidosis), and autoimmune diseases (e.g., lupus). Extreme physical exertion, such as participating in a marathon or military training, can also increase the risk of rhabdomyolysis.
Signs and symptoms of rhabdomyolysis
Rhabdomyolysis can cause a range of signs and symptoms, which can vary in severity depending on the underlying cause and the extent of muscle damage. Here are some of the main symptoms associated with rhabdomyolysis:
Muscle pain, weakness, and stiffness:
These symptoms are often the first to appear in rhabdomyolysis. The muscle pain can be severe and may affect multiple muscle groups, while weakness and stiffness can make it difficult to move.
Rhabdomyolysis can cause myoglobin, a protein released from damaged muscle cells, to accumulate in the urine. This can give the urine a dark, reddish-brown color, similar to cola.
Individuals with rhabdomyolysis may experience fatigue and weakness, even after resting. This can be due to the loss of muscle mass and decreased muscle function.
Nausea and vomiting:
Rhabdomyolysis can cause the release of electrolytes and other substances into the bloodstream, which can lead to gastrointestinal symptoms such as nausea and vomiting.
Confusion or disorientation:
In severe cases of rhabdomyolysis, the buildup of toxins in the bloodstream can affect the brain, leading to confusion, disorientation, and other neurological symptoms.
It’s important to note that some individuals with rhabdomyolysis may not experience any symptoms, or may have only mild symptoms. However, it’s important to seek medical attention if you experience any of the above symptoms, especially if they are severe or persistent. Early diagnosis and treatment can help prevent serious complications associated with rhabdomyolysis, such as kidney failure.
Diagnosis and treatment of rhabdomyolysis
Diagnosing rhabdomyolysis typically involves a combination of physical examination, medical history, blood and urine tests, and imaging tests. Once diagnosed, treatment of rhabdomyolysis typically focuses on managing symptoms and preventing complications.
Physical examination and medical history:
Your healthcare provider will ask about your symptoms and medical history, including any recent injuries, infections, or use of medications or supplements. They will also perform a physical examination to assess muscle strength, range of motion, and any signs of muscle damage or inflammation.
Blood tests and urine tests:
Blood tests are used to measure levels of muscle enzymes, such as creatine kinase (CK), that are released from damaged muscle cells. Elevated levels of CK in the blood can indicate muscle damage and suggest a diagnosis of rhabdomyolysis. Urine tests are used to detect the presence of myoglobin, a protein released from damaged muscle cells that can accumulate in the urine and cause it to appear dark.
Imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, may be used to evaluate the extent of muscle damage and identify any underlying causes of rhabdomyolysis, such as a traumatic injury or infection.
Treatment of rhabdomyolysis typically involves a combination of strategies to manage symptoms and prevent complications. Treatment options may include:
Fluids: Hydration with intravenous fluids is a key component of treatment for rhabdomyolysis. Fluids help flush out toxins and prevent kidney damage.
Electrolyte replacement: Rhabdomyolysis can cause electrolyte imbalances, such as low levels of potassium or calcium. Electrolyte replacement may be necessary to restore normal levels and prevent complications.
Medications: In some cases, medications such as diuretics or bicarbonate may be used to help flush out toxins and prevent kidney damage.