An 83-year-old resident of a skilled nursing facility presents to the emergency department with generalized edema of extremities and abdomen. History obtained from staff reveals the patient has a history of malabsorption syndrome and difficulty eating due to lack of dentures. The patient has been diagnosed with protein malnutrition.
For this Discussion, you will examine the above 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.
Write 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
One of the patients in the nursing facility is an 83-year-old individual. Her symptoms are generalized edema of the abdomen and extremities. The patient’s medical history from the staff shows that the 83-year-old once suffered from challenges of eating due to lack of eating and malabsorption syndrome. Consequently, the resident was diagnosed with protein malnutrition while at the facility.
Role of Genetics in the Condition
In this case study, the patient suffers from lactose deficiency. In adults, lactose intolerance arises from a gradual decline in the LCT gene activity (Fassio, 2018). This condition occurs in many adults as they age. The expression of the LCT gene is reliant on the regulatory element of the DNA sequence. Ugidos-Rodríguez (2018) explains that the sequence is found close to the MCM6 gene.
Folate malabsorption syndrome also arises because of gene mutation. According to Kronn (2017), when mutations occur in the SLC46A1gene, the result is that there is a PCFT protein with no or little purpose. The protein may even fail to be transported to the cell membrane; hence, it will not perform its purpose in the body. This protein’s lack of function will impair the individual’s ability to absorb folate from ingested food. The overall result is the symptoms and signs common to hereditary folate malabsorption.
The Patient Presenting the Specific Symptoms
The described symptoms of the patient are generalized edema in the extremities. This symptom is attributed to the fact that the resident suffers from protein deficiency. Fassio (2018) highlights that the purpose of protein is to maintain the osmolality of fluids. Hence, any imbalance will cause fluid retention characterized as edema in the extremities.
According to the patient’s history, they suffer from malabsorption syndrome that eventually results in protein deficiency. Proteins are useful in maintaining osmolality and preventing the fluid in the blood vessels from leaking into the surrounding body tissue (Fassio, 2018). When albumin levels get too low, a blood protein fluid is retained, resulting in edema. This occurs mostly at the extremities, that is, the feet and ankles. In retaliation, the body undergoes this physiological response, preventing further loss of fluid and protein.
Cells involved in this process are the parietal and islet cells. The autoantibodies affect these cells, causing malabsorption and, in turn, protein deficiency.
Other Characteristics that would Change the Response
Malabsorption can affect anyone, despite age or gender. The symptoms also vary depending on the age and gender of the patient (Kronn, 2017). For example, children will fail to grow properly, and women will stop menstruating.
Other mutations in the genes like the LCT gene or the SLC46A1 gene will result in a different kind of malabsorption (Ugidos-Rodríguez, 2018). This new malabsorption will, in turn, cause another kind of deficiency, such as a carbohydrate deficiency, vitamin deficiency, or fat deficiency. The symptoms would, therefore, depend on the type of deficiency experienced by the patient.
The environment or geographical factors also determines malnutrition (Nakade, 2010). For example, tropical sprue is a common condition in India, Southeast Asia, and the Caribbean. The disease may be due to factors like parasites, food toxins, or infections.
Fassio, F., Facioni, M. S., & Guagnini, F. (2018). Lactose maldigestion, malabsorption, and intolerance: a comprehensive review with a focus on current management and future perspectives. Nutrients, 10(11), 1599.
Kronn, D., & Goldman, I. D. (2017). Hereditary folate malabsorption. In GeneReviews®[Internet]. University of Washington, Seattle.
Nakade, M., & Kondo, K. (2020). Malnutrition in Older People. In Social Determinants of Health in Non-communicable Diseases (pp. 147-158). Springer, Singapore.
Ugidos-Rodríguez, S., Matallana-González, M. C., & Sánchez-Mata, M. C. (2018). Lactose malabsorption and intolerance: a review. Food & function, 9(8), 4056-4068.