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Sickle Cell Disease. Paolo Aquino, M.D., M.P.H., PGY I Combined Internal Medicine/Pediatrics. Outline. What is sickle cell disease? Epidemiology Manifestations Approach Treatment. What is it?.

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Sickle cell disease

Sickle Cell Disease

Paolo Aquino, M.D., M.P.H.,

PGY I

Combined Internal Medicine/Pediatrics


Outline
Outline

  • What is sickle cell disease?

  • Epidemiology

  • Manifestations

  • Approach

  • Treatment


What is it
What is it?

  • Sickle cell disease is one form of hemoglobinopathy- a structural abnormality in hemoglobin molecule

  • Substitution of glutamic acid by valine at the 6th position

    • Negatively charged amino acid replaced by neutral amino acid


What is it1
What is it?

  • Hgb S maintains normal function in oxygenated state

  • In de-oxygenated state- induced change in configuration allows valine to interact irregularly

  • Formation of highly ordered polymers

  • Polymers aggregate to rigid rods

  • Spiny brittle RBCs

  • Within vessels, thrombosis/obstruction


Frequency
Frequency

  • 8-10% of African Americans in the U.S. are carriers of Hgb S gene

  • Hgb SS disease occurs in 0.15% of African American newborns


Manifestations
Manifestations

  • Generally, no symptoms are seen in the 1st 6 moths of life due to circulating fetal hemoglobin

  • Dactylitis (aka hand-foot syndrome)

    • Painful, symmetric swelling of hands and feet

    • Due to ischemic necrosis of small bones of hands and feet

    • ? Due to rapidly expanding bone marrow, choking of blood supply


Manifestations1
Manifestations

  • Acute pain episodes

    • Young children- extremities

    • Older patients- head, chest, abdomen, back

    • Recurrence of pain tends to occur in same sites within a particular individual

    • Exacerbated by fever, hypoxia, acidosis- promote deoxygenation of Hgb S


Manifestations2
Manifestations

  • Infarctions

    • Bone/bone marrow

      • Osteomyelitis- concern of salmonella infection

    • Autosplenectomy

      • Increased susceptibility to encapsulated organisms

        • Esp. pneumococcus & H.influenzae

        • Associated with reduction in serum opsonins

    • Pulmonary infarcts

      • Pneumonitis

      • Fat emboli


Manifestations3
Manifestations

  • Infarcts

    • Stroke

    • Kidney

      • Impaired renal function

      • Hyposthenuria

  • Priapism

  • Avascular necrosis


Manifestations4
Manifestations

  • Acute Chest Syndrome

    • Fever

    • Tachypnea

    • Chest pain

    • Hypoxia

    • Hypotension

    • X-ray findings


Manifestations5
Manifestations

  • Splenic seqestration

    • Large amounts of blood pools in spleen

      • Splenic enlargement

      • Criculatory collapse

    • Reason unknown

    • May follow febrile illness

  • Aplastic episodes- may follow infection with parvovirus B 19


Manifestations6
Manifestations

  • Cardiomegaly

  • Gallstones

  • Body habitus

    • Underweight

    • Delayed puberty


Manifestations7
Manifestations

  • Laboratory

    • Normocytic anemia- Hgb 5-9 mg/dL

    • Peripheral smear

      • Target cells

      • Poikilocytes

      • Sickled cells

      • Howell Jolly bodies

    • Leukocytosis with neutrophil predominance

    • Thrombocytosis

    • X-ray- expanded marrow spaces, osteoporosis


Approach
Approach

  • History

    • Pain symptoms

      • Recognition of specific processes

        • Acute chest syndrome

        • Cholecystitis

        • Splenic seqestration

        • Priapism

    • Neurological changes


Approach1
Approach

  • Physical examination

    • General: fussiness, irritability, poor feeding

    • Vital signs

    • Neurological

    • HEENT: icterus, pallor, maxillary hyperplasia

    • Cardiac: murmur

    • Respiratory: assymetry of breath sounds


Approach2
Approach

  • Physical examination

    • Abdomen: assess for spleen, Murphy’s sign

    • GU: priapism

    • Extremities: edema, infllammation


Approach3
Approach

  • Work-up

    • Newborn screen

    • CBC, reticulocytes, peripheral smear

    • If febrile, blood culture

    • If lung findings, chest x-ray, blood gas

    • If abdominal pain, liver enzymes, UA, abdominal u.trasound

    • Consider x-ray of extremities

    • Head CT if neurological changes


Treatment
Treatment

  • Hydration- 1.5 times maintenance

  • Analgesia

    • ibuprofen

    • Acetaminophen +/- codeine

    • Ketorolac

    • Opiates


Treatment1
Treatment

  • For respiratory distress

    • Antibiotic coverage

    • Supplemental oxygen

    • Partial exchange transfusion

  • For splenic sequestration

    • Repletion of intravascular volume

    • Severe anemia, transfuse


Treatment2
Treatment

  • For suspicion of stroke

    • Exchange transfusion

  • For priapism

    • Analgesia, hydration

    • Partial exchange transfusion


Treatment3
Treatment

  • Outpatient

    • Vaccinations

      • Pneumococcal, meningococcal, influenza vaccines

    • Penicillin prophylaxis

    • ? Folic acid therapy

    • Hydroxyurea for severe symptoms

  • Consideration for BMT for severe cases


References
References

  • Nelson’s

  • eMedicine

  • 6 West Handbook


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