Case 30: Sickle Cell Disease

Front 1

Pathophysiology of SCD?

Back 1

• substitution of valine for gluatmic acid at sixth aa position of hemoglobin molecule
  
• formation of polymers of hemoglobin when hemoglobin becomes deoxygenated
  
• leads to development of sickle cells

Front 2

features of SCD?

Back 2

• local tissue hypoxia
  
• pain
  
• tissue damage
  

Front 3

Findings of SCD?

Back 3

hemolysis of RBCs

chronic anemia

elevation of retic count

Front 4

Hemoglobin F

Back 4

predominant at birth

Front 5

Hemoglobin A

Back 5

normal adult hemoglobin

Front 6

Hemoglobin FA does not does a sickling disorder

Back 6

:)

Front 7

FAS

Back 7

FAS means the baby is a carrier of one abnormal hemoglobin gene-for hemoglobin S.This individual has benign sickle cell trait-i.e., is a carrier of hemoglobin S

Front 8

FAC

Back 8

FAC means the baby is a carrier of one abnormal hemoglobin gene-for hemoglobinC.This individual has benign hemoglobin C trait-i.e., is a carrier of hemoglobin C.

Front 9

FS

Back 9

This means that both of the baby's hemoglobin genes have mutations for hemoglobinS.FS is the most common hemoglobin pattern causing sickle cell disease.

Front 10

FSA

Back 10

FSA is sickle cell beta thalassemia, meaning one of the globin genes has a mutationfor S and the other has a mutation for beta thalassemia (which produces no or littlenormal hemoglobin).This pattern causes a sickling disorder, although it may behave in a milder fashionthan FS (in which both genes have the sickling mutation). From a clinicalmanagement standpoint, these patients are treated in the same manner.

Front 11

FSC

Back 11

FSC is sickle cell hemoglobin C disease: one gene has the S mutation and one genehas the mutation for hemoglobin C.This pattern causes a sickling disorder, although it may behave in a milder fashionthan FS (in which both genes have the sickling mutation). From a clinicalmanagement standpoint, these patients are treated in the same manner.

Front 12

Common procedures fo young individuals with SCD?

Back 12

• tonsillectomy
  
• cholecystectomy
  

Front 13

Why tonsillectomy?

Back 13

• lymphoidal tisssue hypertrophy
  
• excessive snore
  
• obstructive sleep apnea
  

Front 14

Why cholecystectomy?

Back 14

• bilirubin gallstones are common in all patients with hemolytic anemia
  
• rare in first five years of life
  
• can be serious so treatment warranted if symptoms of cholelithiasis
  

Front 15

T/F: infants and young children with SCD are at increased risk of sepsis? Why/why not?

Back 15

• YES
  
• decreased splenic function
  
• decreased riesistance to infection with encapsulated organisms
  
• penicillin decreases risk of mortality from sepsis until age 5 or 6
  

Front 16

List the main goals for comprehensive visit for SCD?

Back 16

Important to cover

1. how the family deals with various complications that can occur

2. the frequency of painful or other vaso occlusive problems

3. How the family access health care

4. how the family is dealing with chronic illness

Front 17

List four main expected complications of children with SCD?

Back 17

1. jaundice

2. anemia

3. stroke

4. respiratory problems

Front 18

Why are there respiratory issues in children with SCD?

Back 18

• lungs site of sickling problems
  
• can occur in form of pneumonia
  
• infections
  
• may occur as result of vaso occlusion of lung parenchyma, acute chest syndrome, medical emergency requiring supplemental O2 and transfusion therapy
  

Front 19

Immunizations for kids with SCD?

Back 19

• Haemophilus influenzae type b conjugate vaccine and 13-valent pneumococcal conjugatevaccine (Prevnar 13)-given at 2, 4 and 6 months-have aided in protection against two bacteria thathave been major leaders in morbidity and mortality in children with sickle cell disease.
  
• meningococcal vaccine
  
• pneumo vaccine
  

Front 20

What is the inheritence pattern of SCD?

Back 20

Autosomal recessive

• 25% of offspring have sickle disease
  
• 25% have normal AA hemoglobin
  
• 50$ have sickle cell trait, or AS
  

Front 21

Is there prenatal testing for SS?

Back 21

Yes

Front 22

List some effects of chronic illness on growth and development?

Back 22

• absence from school affect academics
  
• socialization and low self esteem
  
• costs
  
• siblings affected
  
• feelings of guilt in siblings
  

Front 23

Why can growth be affected by SCD?

Back 23

• chronic anemia
  
• poor nutrition
  
• painful crises
  
• endocrine dysfunction
  
• poor pulmonary function
  

Front 24

Three important signs in patient with SCD?

Back 24

• splenic enlargement
  
• sclera: icterus
  
• neurologic exam: evaluation of signs of potential stroke, sometimes subtle
  

Front 25

What is the basis hemoglobin in SCD?

Back 25

60-90

difficult to withstand acute change

Front 26

What might cough and breathing difficulty in child with sickle cell disease indicate?

Back 26

• pneumonia
  
• intrapulmonary sickling
  
• pulmonary fat embolism
  

Front 27

What is acute chest syndrome?

Back 27

any of:

• pneumonia
  
• intrapulmonary sickling
  
• pulmonary fat embolism
  

Front 28

What three things to address rapidly in patients with acute chest syndrome?

Back 28

• possibility of infection
  
• pulmonary and respiratory complaints
  
• pain
  

Front 29

ACS findings on CXR?

Back 29

• multilobar infiltrates
  
• effusions
  
• atelactasis
  

Front 30

CXR in pericarditis

Back 30

• effusion
  
• infiltrate
  

Front 31

CXR findings of CHF

Back 31

• lower lobe infiltrates
  
• cardiomegaly
  

Front 32

CXR of Rib infarction

Back 32

pleural effusion may occur

Front 33

CBC findings in a stress response?

Back 33

• exaggerated leukocytosis
  
• thrombocytosis
  

Front 34

What to consider when treating SCD pain?

Back 34

• Narcotic analgesia: relieve pain, but monitor as these are respiratory depressants
  
• NSAIDs: anti-inflammatory pain relief
  

Front 35

What to encourage if patient has atelactasis?

Back 35

deep breathing

often through using assistive devices

Front 36

What is an incentive spirometer?

Back 36

To use this device, the individual places the end piece in his mouth and, as he inhales, theindicator rises. By increasing the inspiratory effort, the incentive spirometer helps to decreaseatelectasis. With a child, making this a game helps him to not think of this as "treatment."

Front 37

Should RBC transfusion be used in acute chest syndrome?

Back 37

• indications not precise, but look for:
  
• fall in Hgb from baseline
  
• increased RR
  
• declining O2 sats
  
• progressive infiltrates on CXR
  

Front 38

What are some educational challenges for kids with SCD?

Back 38

teach patient how to palpate spleen

tongue blade can be marked with baseline splening size

Front 39

ACS clinical features

Back 39

fever

cough

chest pain

SOB

decreased oxygenation

Front 40

pericarditis features

Back 40

tachypnea

fever

uncommonly causes chest pain

Front 41

CHF features

Back 41

tachypnea

Front 42

Rib infarction features

Back 42

always suspect when child with sickle cell presents with chest pain

tachypnea

Front 43

Sepsis features

Back 43

no focal

likely no chest pain

Front 44

When to seek emergency care for patient with SCD?

Back 44

fever

splenic enlargement

chest pain

rapid breathing

increased pallor or jaundice

priapism

Front 45

Fever in sickle cell

Back 45

Fever in children with sickle cell disease is a medical emergency.It is sometimes the only sign of serious infection.

Front 46

Splenic enlargement in sickle cell

Back 46

Massive enlargement or rapid change in size can indicate splenicsequestration crisis.

Front 47

Slurred speech in sickle cell

Back 47

Slurred speech can indicate a stroke and should be rapidly evaluated.An exchange transfusion may be indicated to lower the hemoglobin-S levelto help prevent progression and to prevent recurrent stroke.

Front 48

Chest pain

Back 48

Tachypnea and chest pain may indicate acute chest syndrome, and eitherone warrants emergency evaluation.

Front 49

Rapid breathing

Back 49

Tachypnea and chest pain may indicate acute chest syndrome, and eitherone warrants emergency evaluation.

Front 50

Increased pallor

Back 50

Pallor is a typical finding from the anemia of SCD, and does not constitute anemergency.However, an increase in pallor can be caused by splenic sequestration,increased hemolysis (as discussed above) or a temporary inhibition oferythroid production (aplastic crisis).

Front 51

Increased jaundice

Back 51

Baseline jaundice is typical in sickle cell disease, so on its own is not anemergency.Marked increase in the level of jaundice may indicate an increase in thedegree of hemolysis and a need for transfusion (may be associated with aviral illness).

Front 52

Priapism

Back 52

Priapism from sickling in the penile arteries can cause permanent damage.

Front 53

What ABx to use in acute chest syndrome?

Back 53

• third generation cephalosporin
• macrolide antibiotic