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Sickle Cell Disease

Objectives:

  1. Recognize the clinical findings associated with sickle cell disease (SCD) in children of various ages.
  2. Understand the pathogenesis, complications, and management of SCD.
  3. Recognize and manage common and emergent complications of SCD, including: fever, pain, acute chest syndrome, splenic sequestration, aplastic crisis, and stroke.
  4. Understand the health maintenance needs of patients with SCD.
  5. Understand the indications, benefits and risks of medications used in SCD: hydroxyurea and L-glutamine

Articles:

Additional Resources:

  • For a succinct reference on evaluating and managing acute SCD complications in the ED, explore the following CHOP algorithms: Fever, Pain Crisis, and Stroke.
  • For audiovisual learners, this 20 min video by OnlineMedEd reviews the pathogenesis and manifestations of common SCD complications.

Self-Assessment:

1. A 2-year-old girl with hemoglobin SS presents to the emergency department with a temperature of 37.4°C and fussiness. On physical examination, her heart rate is 162 beats/min, her blood pressure is 78/52 mm Hg, and her oxygen saturation in room air is 96%. She appears pale and her spleen tip is palpable 3 cm below the left costal margin. Her examination is otherwise normal. A complete blood cell count is shown:

  • Laboratory Test                  Patient Results
  • White blood cell                  13,000/μL (13 × 109/L)
  • Hemoglobin                        5.1 g/dL (51 g/L)
  • Mean corpuscular volume    88 fL
  • Platelets                            95 × 103/μL (95 × 109/L)
  • Reticulocyte count               35%

Of the following, the BEST next step in management is to:

  1. administer intravenous (IV) ceftriaxone
  2. administer IV morphine
  3. initiate therapy with hydroxyurea
  4. administer IV normal saline
  5. transfuse packed red blood cells

2. An 18-year-old young man with hemoglobin SS disease presents to the emergency department with a 24-hour history of tactile fever and new-onset shaking chills. He had been previously well. His history is remarkable for 1 admission per year for sickle cell pain crises since he started hydroxyurea 5 years ago. On physical examination, the patient appears somewhat uncomfortable. His temperature is 39.9°C, heart rate is 96 beats/min, respiratory rate is 30 breaths/min, and blood pressure is 90/70 mm Hg. His examination is remarkable for a flow murmur on cardiac examination, but is otherwise normal. Of the following, based on his presentation, the patient’s MOST likely diagnosis is:

  1. acute chest syndrome
  2. Escherichia coli sepsis
  3. hydroxyurea toxicity
  4. splenic sequestration crisis
  5. Streptococcus pneumoniae sepsis

3. You are seeing a 2-year-old boy with hemoglobin SS disease for routine health care in your primary care practice. His mother is 7 months pregnant with the couple’s second child. They know that there is a risk that the newborn will also have sickle cell disease, but they declined prenatal diagnostic procedures because of the risk to the fetus. They ask how soon after birth the diagnosis of sickle cell disease can be made. Of the following, the MOST appropriate answer to their question is:

  1. at birth
  2. by 1 month of age
  3. by 3 months of age
  4. by 6 months of age
  5. by 12 months of age

4. A 2-month-old female infant is seen for a health supervision visit. She was diagnosed with sickle cell disease through newborn screening, followed by confirmatory testing by a hematologist at 3 weeks of age. Prophylactic penicillin was begun at the hematology visit. She is feeding and voiding well. Her mother does not have any concerns at today's visit. The infant has a temperature of 37.1°C, weight of 5.4 kg (75th percentile), length of 55 cm (25th percentile), and occipitofrontal circumference of 38.5 cm (50%). The spleen is not palpable. The remainder of the examination findings are unremarkable. In addition to routine immunizations, the BEST plan for meningococcal vaccination in this patient is:

  1. conjugate vaccine at 11 years of age
  2. conjugate vaccine today
  3. serogroup B vaccine at 2 years of age
  4. serogroup B vaccine today

5. An 18-month-old boy with sickle cell disease (SS genotype) is brought to the emergency department by his parents because he has been "too sleepy." He was well until 1 day ago when he developed upper respiratory tract symptoms. Over the last 12 hours, he has become more lethargic and less responsive. He has a temperature of 37°C, heart rate of 150 beats/min, blood pressure of 96/72 mm Hg, respiratory rate of 32 breaths/min, and oxygen saturation of 94% on room air. He is lying in his mother’s arms quietly with his eyes open and in moderate distress. He is pale. His lungs are clear to auscultation bilaterally, he is tachycardic, but with a regular rhythm. His abdomen is soft, and his spleen is palpable to 3 cm below the umbilicus. His extremities are warm and well perfused. Laboratory data are shown:

  • Laboratory Test              Result
  • White blood cell count      12,100/µL (12.1 × 109/L)
  • Hemoglobin                    4.1 g/dL (41 g/L)
  • Platelets                        99 × 103/µL (99 × 109/L)
  • Reticulocytes                  25.6%

Of the following, the intervention MOST likely to result in clinical improvement is:

  1. infusion of a 20-mL/kg normal saline bolus
  2. initiation of ceftriaxone and vancomycin
  3. initiation of continuous positive airway pressure
  4. transfusion of 5 mL/kg packed red blood cells

6. A 10-year-old African American boy with sickle cell anemia is admitted to the hospital for intravenous fluids and pain control because of dehydration and acute pain crisis. After 12 hours in the hospital he is found to be acutely unresponsive. Naloxone is administered with no change in his clinical status, and he is emergently transferred to the pediatric intensive care unit. He has a temperature of 38.1°C, heart rate of 160 beats/min, respiratory rate of 16 breaths/min, and blood pressure of 60/30 mm Hg. His physical examination is notable for a rigid neck, tacky mucous membranes, and tachycardia with a flow murmur. His lungs are clear. He is obtunded and groans to painful stimuli without localizing it. His pupils are equal, round, and reactive to light, with intact extraocular movements and symmetric facies. He moves all extremities equally to noxious stimuli. Deep tendon reflexes are 2+ throughout with toes downgoing to plantar stimulation. Because of his deteriorating condition, he is intubated for airway protection, begun on fluid resuscitation, and placed on broad-spectrum antibiotics after obtaining blood cultures. Noncontrast computed tomography of the head performed as part of a stroke evaluation has normal results. Lumbar puncture is performed with an opening pressure of 61 cm H2O. The cerebrospinal fluid is cloudy, and laboratory data from its analysis are shown:

  • Laboratory Test            Result
  • White blood cell count  1,300/µL
  • Neutrophils                  70%
  • Lymphocytes                25%
  • Monocytes                    5%
  • Red blood cell count      0/µL
  • Protein                        145 mg/dL
  • Glucose                        10 mg/dL (0.6 mmol/L)

Of the following, the MOST likely cause of this child’s meningitis is:

  1. Haemophilus influenza
  2. Herpes simplex virus
  3. Salmonella
  4. Streptococcus pneumoniae

7. A 10-year-old boy is brought to the emergency department for the evaluation of sudden onset of fever to 39°C after a viral upper respiratory illness. He has a wet cough and complains of right chest pain. On physical examination, he is ill appearing. He has a respiratory rate of 20 breaths/min and oxygen saturation of 94% on room air. He complains of pleuritic pain on the right side with deep inspiration and splints his chest to the right. Breath sounds are decreased in the right midlung field, but no rales, wheezes, or rubs are heard. He is able to produce a sputum sample that shows gram-positive lancet-shaped diplococci and demonstrates the pattern of hemolysis shown in the image (Item Q201).

Of the following, this boy would be at INCREASED risk for complications if he had a history of:

  1. allergy to house dust mite and cat
  2. atrial septal defect
  3. parental smoking in the home
  4. sickle cell disease

8. A 2 week old newborn has a positive newborn screen homozygous for sickle cell anemia. What hemoglobin pattern is consistent with this result?

  1. FA
  2. FAS
  3. FS
  4. FSC

9. A 15-year-old boy with sickle cell disease (genotype SS) has had several vaso-occlusive crises. He is started on hydroxyurea, and dose is gradually increased with frequent follow-up visits for monitoring lab work. Which of the following is the most significant dose limiting side effect necessitating routine monitoring?

  1. Hepatitis
  2. Poor weight gain
  3. Nephrotoxicity
  4. Myelosuppression
  5. Pancreatitis

10. A 6-year-old boy, with sickle cell disease (genotype SS), presents to clinic for a well-child check. He has been healthy, has no allergies, and has a normal physical exam. All of the following health maintenance activities are indicated at this visit, EXCEPT:

  1. Referral for pulmonary function testing
  2. Referral for ophthalmology evaluation
  3. Influenza virus vaccine
  4. Transcranial Doppler ultrasonography

11. A 7-year-old boy with sickle cell disease (genotype SS) presents with dysphasia and right-sided weakness. Physical examination reveals normal vital signs. There is depression of right angle of mouth and weakness of right upper and lower extremities. Which of the following annual screening tests would have been most helpful in predicting the risk of this complication?

  1. Comprehensive examination by neurologist.
  2. Computed tomography of head.
  3. Magnetic resonance imaging of head.
  4. Measurement of hemoglobin S percentage.
  5. Transcranial Doppler ultrasonography.

Find the answers here.