sickle cell disease
Download
Skip this Video
Download Presentation
Sickle Cell Disease

Loading in 2 Seconds...

play fullscreen
1 / 22

Sickle Cell Disease - PowerPoint PPT Presentation


  • 153 Views
  • Uploaded on

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?.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about ' Sickle Cell Disease' - catherine-mccall


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
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
ad