Genetics and Disease Assignment

Genetics and Disease Assignment

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 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. To prepare: 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.Genetics and Disease Assignment

Scenario in Advanced Pathophysiology

Protein malnutrition, also called protein-energy malnutrition (PEM), is a range of pathological conditions that arise from lack of dietary protein in various proportions (Semba, 2016).  Types of PEM include marasmus, kwashiorkor, and marasmic kwashiorkor. While the condition is relatively common globally, it is predominant in hospitals affecting the elderly. Protein-energy malnutrition is secondary to other diseases such as cancer cachexia and chronic renal disease, where protein-energy wasting occurs. The condition is characterized by inadequate dietary protein and calories. It has profound impacts such as reduced metabolism, impaired growth, compromised immunity, and it has the primary basis in dietary deprivation.


Genetics play a profound role in the development of protein malnutrition. According to McCance and Huether (2019), multifaceted factors influence the risk of acquiring common diseases. Among them are gender, age, diet, and familial history of the disease. The complex interactions between these genetic and non-genetic factors contribute to the risk of disease development. The 83-year-old resident has been diagnosed with protein malnutrition, a disease in which genetics plays a profound role. ALB (albumin) is a crucial gene associated with protein-energy malnutrition. In adults, albumin is the most abundant plasma protein, representing half of the entire plasma protein content. ALB is a single peptide chain comprising 585 amino acids and is entirely synthesized in the liver. Albumin plays several physiological roles. It maintains oncotic pressure to prevent leakage of fluids, leading carrier of fatty acids, and maintains acid-base equilibrium as the plasma buffer. Importantly, ALB is a marker for nutritional status and disease severity in patients with chronic illnesses. Reduced albumin levels in the blood lead to protein-energy malnutrition.Genetics and Disease Assignment

In the case study, the patient presents with specific symptoms such as generalized edema of the extremities and abdomen. Generalized edema/ anasarca is characterized by severe edema that affects the whole body. In such instances, the underlying tissues beneath the skin retain excessive salt and water, causing swelling. Protein-energy malnutrition is characterized by peripheral edema in patients suffering from starvation (Coulthard, 2015). The history obtained for this specific patient indicates a history of malabsorption syndrome and difficulty eating due to a lack of dentures. Generalized edema results from loss of fluid balance between oncotic and hydrostatic pressures across the capillary walls. Albumin concentration maintains oncotic pressure, enabling the body to maintain fluids within the vasculature. The extreme lack of protein in the body results in an osmotic imbalance in the gastrointestinal system, causing gut swelling, diagnosed as edema.

Generally, protein malnutrition occurs where there is insufficient protein intake to match the body’s requirement. Reduced protein intake contributes to the minimal synthesis of visceral proteins resulting in hyperaabulminemia. McCance and Heather (2019) state that resultant metabolic disturbances of intracellular accumulations of abnormal proportions of various substances are important manifestations of cell injury. Cellular accumulations not only result from sublethal injury but also from inefficient cell functioning. Cells involved in this process are cytoplasm and the nucleus. Abnormal accumulations often occur in the cytoplasm, specifically lysosomes or in the nucleus incases of insufficient removal of normal substances due to altered packaging and transport. Accumulations in the nucleus also result from abnormal substances such as mutated genes or protein folding. Other characteristics, such as genetics, would change the physiologic response by modifying innate immunity and gene expression. Protein malnutrition compromises a person’s immunity, ultimately increasing a person’s risk of contracting immune diseases. Genetics and Disease Assignment


  1. Coulthard, M. (2015). Oedema in kwashiorkor is caused by hypoalbuminaemia. Paediatrics And International Child Health, 35(2), 83-89.

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

Semba, R. (2016). The Rise and Fall of Protein Malnutrition in Global Health. Annals Of Nutrition And Metabolism, 69(2), 79-88.

Genetics and Disease Assignment