Patient: Marcus W., a 16-year-old African American male Chief Complaint: Severe joint and chest pain, fatigue, shortness of breath
History of Present Illness: Marcus presented to the emergency department with complaints of severe pain in his knees, lower back, and chest. His mother reports that Marcus has been increasingly tired, has missed school due to fatigue, and is experiencing shortness of breath after climbing stairs. She also notes a low-grade fever and yellowing in the whites of his eyes.
Past Medical History: • Diagnosed with sickle cell disease at birth • Frequent hospitalizations for pain crises • On hydroxyurea therapy, though with inconsistent adherence • Up to date on vaccinations
Family History: Mother is a carrier of the sickle cell trait. Father’s status unknown. Social History: • Lives with mother and two siblings • Active in sports when well but has reduced participation over the past year • No alcohol, tobacco, or drug use
Physical Exam Findings: • Pale conjunctiva • Scleral icterus • Tachycardia (HR: 112) • Mild hepatomegaly • Pain score: 8/10 (knees and chest)
Laboratory Findings: • Hemoglobin: 7.1 g/dL (low) • Reticulocyte count: elevated • Total bilirubin: elevated • LDH: elevated • Peripheral smear: sickled red blood cells
Answer these questions • Discuss the cellular pathophysiological processes involved in Marcus’s disease. How do these relate to his presenting symptoms? • Identify the genetic mutation responsible for this disease and its mode of inheritance. • Explain how sickle cell disease affects the immune system. • Describe how current treatments, such as hydroxyurea, target the cellular alterations of the disease.
Rubric
Develop a analysis, examining the patient signs and symptoms presented in the case study; discussing the primary cellular pathophysiological processes, and the significance for symptom development and diagnosis.
What role do genetic mutations play in the development of the disease?
What is the impact of the disease on the immune system? …… How do treatment strategies target the pathophysiological mechanisms of the disease?
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