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Objectives
Pathophysiology of sickle cell disease Inheritance of sickle cell disease Health maintenance for sickle cell disease Management of acute illness
The Management of a child with sickle cell disease is best when overseen by a comprehensive sickle cell disease center. If unavailable, care should be provided in consultation with a pediatric hematologist.
Sickle
&ickle%&haped +igid 'ives for )* days or less
$aso'occl(sion:
-ccurs when the rigid sickle shaped cells fail to move through the small blood vessels, blocking local blood flow to a microscopic region of tissue. mplified many times, these episodes produce tissue hypo"ia. The result is pain, and often damage to organs.
cute Manifestations/
3acterial &epsis or meningitis2 +ecurrent vaso%occlusive pain 4dactylitis, muscoskeletal or abdominal pain5 &plenic &e6uestration2 plastic .risis2 cute .hest &yndrome2 &troke2 Priapism Hematuria, including papillary necrosis
.hronic Manifestations/
nemia 0aundice &plenomegaly 1unctional asplenia .ardiomegaly and functional murmurs Hyposthenuria and enuresis Proteinemia .holelithiasis $elayed growth and se"ual maturation +estrictive lung disease2 Pulmonary Hypertension2 vascular necrosis Proliferative retinopathy 'eg ulcers Transfusional hemosiderosis2
&ickle cell anemia 4&&5 &ickle Hb . disease 4&.5 &ickle S beta plus 4&78 thalassemia 5 &ickle 3eta !ero 4&79 thalassemia5
)emo!lobin C
)emo!lobin D )emo!lobin E
Malarial +egions of frica and sia lpha thalassemia occurs in all these regions as well
Prevalence>Incidence of &.$
In frican% mericans the incidence of &.$ is ( in ?@; for Hb&&, ( in =?; for Hb&. and ( in (,::@ for &ickle beta%thalassemia. In addition, ( in () frican% mericans are carriers for the disorder In other A.&. populations, the prevalence of sickle cell disease is ( in ;=,*** .aucasiansB ( in (,(** Hispanics 4eastern states5B ( in ?),*** Hispanics 4western states5B ( in ((,;** siansB and ( in ),@** Cative mericans
Parents with sickle cell trait/ hemoglobin & Probability of child with hemoglobin / );< Probability of child with sickle cell trait &/ ;*< Probability of child with sickle cell disease &&/ );<
2.onfirmatory testing re6uires hemoglobin separation by electrophoresis 4cellulose acetate and citrate agar5, isoelectric focusing, and>or high performance lipid chromatography. &olubility testing should never be used for confirmation.
.ana!ement
Health maintenance Infection prevention Pain management &ickle emergencies .hronic disease management
)ealth .aintenance
1re6uent visits/ every ? to : months Immuni!ations
H +outine immuni!ations H Hib% : months and older H )? valent Pneumova" at five years
Penicillin prophyla"is beginning no later than two months Cutrition and fluids
H 1olate supplementation is controversial
)ealth .aintenance
Physical e"am with attention to/
H #rowth and development, Iaundice, liver>spleen si!e, heart murmur of anemia, malocclusion from increased bone marrow activity, delayed puberty
'ab evaluations/
H .3. with differential and reticulocyte count, urinalysis, renal J liver function
)ealth .aintenance
&pecial studies 3rain% Transcranial doppler ultrasonography, M+I>M+ 'ungs% Pulmonary function tests, Fcho cardiogram for pulmonary hypertension Ceurologic% neuropsychological testing
C(rrent &ecommendations
Penicillin Prophyla"is/ &&, &KThalassemia
H ) months to ? years/ (); mg P- 3I$ H -ver ? years/ );* mg P- 3I$
Ehen to discontinue is controversial
&pecial .ircumstances
H History of repeated sepsis, surgical splenectomy
Eye E/amination
+etinal vessel disease
H Incidence ??< in hemoglobin &. H Incidence ?< in && &ea 1an
Emer!encies
0ever1in+ection -c(te chest syndrome Eye tra(ma 2hy hema3 Pria ism Stroke S lenic se4(estration Severe ain
.linically/ cute onset of fever, respiratory symptoms, new infiltrate on chest "%ray .auses
H Infection H 1at emboli H 'ung infarct
&ince you cannot distinguish between acute chest syndrome and pneumonia clinically there is no change in treatment.
Eye Tra(ma
Fye trauma is an emergency in '' sickle conditions 4including sickle trait5 #et sickle prep %rapid test% if sickle status unknown .omplications if untreated/ %glaucoma, %optic nerve atrophy, %retinal artery blockage
Pria ism
.ommonly occurs in children and adolescents with && or &. Treatment is difficult
H -pioid pain medication H Intravenous fluids H spiration and irrigation of the corpus cavernosum H &urgery H 3lood Transfusions
Stroke
ny acute neurologic symptom other than mild headache, even if transient, re6uires urgent evaluation. Historically = to (*< of children with && N&ilent &trokeO in ))< of children with hemoglobin && Treatment/ .hronic transfusion therapy to maintain sickle hemoglobin at or below ?*<
S lenic Se4(estration
&udden trapping of blood within the spleen Asually occurs in infants under ) years of age with && &pleen enlarged on physical e"am, may not be associated with fever, pain, respiratory, or other symptoms .irculatory collapse and death can occur in less than thirty minutes
S lenic Se4(estration
Hemoglobin &&
H Incidence increased/ : and ?: months
-verall incidence about (;<
Hemoglobin &.
H Incidence increased/ ) and (@ years
Mean age =.P years .an occur in adolescence and adulthood Incidence about ;<
Pain .ana!ement
cute pain
Hand%foot syndrome 4dactylitis5 Painful episodes/ vasoocculsion &plenic se6uestration cute chest syndrome .holelithiasis Priapism vascular necrosis +ight upper 6uadrant syndrome
Pain .ana!ement
Pain is an emer!ency
Hospital evaluation/ Hydration/ (.; times maintenance unless acute chest syndrome suspected ssess pain level and treat
H $o not withhold opioids H 1re6uently reassess pain control
Pain .ana!ement
Mild%moderate pain
-cetamino hen
H Hepatoto"ic
Non'steroidal anti'in+lammatory a!ents 2NS-"Ds3 %.ontraindicated in patients with gastritis>ulcers and renal failure %Monitor renal function if used chronically
Pain .ana!ement
Moderate%severe pain
H -pioids are first%line treatment H Morphine sulfate or hydromorphone H Meperidine C-T recommended
4Metabolite causes sei!ures J renal to"icity5
&enal Disease
+enal findings
H H H H H $ecreased ability to concentrate urine $ecreased ability to e"crete potassium Inability to lower urine pH normally Hematuria > papillary necrosis nemia, proteinuria, hematuria
.holestasis
H May progress, leading to bleeding disorders or liver failure
Iron overload
H $ue to chronic transfusions
.hronic hepatitis
Treatment
H .onservative
C& I$Rs and : weeks of rest off affected limb Physical therapy
Screenin! -$N
vascular Cecrosis
H Hip 1ilms H Hip M+I H #rading of ,C
#rade I/ M+I #rade II/ 1ilm>M+I #rade III/ 1ilm #rade I,/ 1ilm #rade ,/ 1ilm
-nemia 7 8a(ndice
.ommon and starting in the first year of life $ecreased lifespan of sickle red cells
H Hemolysis H nemia H Hyperbilirubinemia H +eticulocytosis
Stroke
Intracranial hemorrhage
H More common in adults
&enal Disease
Proteinuria>Cephrotic syndrome D*< of &.$ patients with nephrotic syndrome develop end%stage renal disease -ccurs in T )*< of all patients -ccurs in D.;< of all pediatric patients% increased in hemoglobin && to :.;<
H Increased incidence with age H Increased with anemia, increased M.,, and increased leukocyte count
6e! 9lcers
-ccurs in about );< of all hemoglobin && patients Predominantly males
H Incidence increased with ge $ecreased hemoglobin H Incidence decreased with alpha thalassemia
.hronic Pain
Pain lasting L? to : months Patients should receive comprehensive psychologic and clinical assessment Treatment
H H H H H nalgesics Hydro"yurea TFC& units +ela"ation techni6ues Physical and occupational therapy
#enetic .ounseling
Eho should receive counselingU
%Parents of newborns with sickle disorders or traits %Pregnant women> prenatal counseling
Information about sickle cell disease can be found through the merican cademy of Pediatrics or from the Cational Institute of Health on line at/
http/>>www.nhlbi.nih.gov>health>prof>blood>sickle>scVmngt.pdf