How would you evaluate and manage a pediatric patient who has a painful swelling of the hands and feet, fatigue, or fussiness? Which diagnostic studies would you recommend for this patient and why? It is not normal for a pediatric patient to present with painful swelling of the hands and feet, fatigue and fussiness without a specific reason. Given the adoptive history of this patient, many differentials would need to be considered without a solid past medical and family history to pull from. Dactylitis, musculoskeletal and abdominal pain are considered vaso-occlusive pains, which are acute manifestations of sickle cell disease (SCD) ( Committee on Genetics., 2002). Most infants born in the United States are now identified by routine neonatal screening. Pediatrics that are not, generally present to their provider with reports of painful swelling of the hands and feet, severe anemia, acute splenic enlargement, jaundice, or splenomegaly (Committee on Genetics., 2002). The most common diagnostic screening tests for SCD done today are hemoglobin electrophoresis which detects different types of hemoglobin in the blood, high performance liquid chromatography (HPLC) to help identify which type of hemoglobin is present, and deoxyribonucleic acid (DNA) testing to confirm the genetic makeup of the patient (Diagnosing Sickle Cell., n.d.). Once the diagnosis is
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- Summer '17
- Sickle-cell disease, Miah Zavarro