CPC Case 6 Kelsey, Jen, Matt G, Jeremy, Nichole, Ryan, Sue.

transcript

CPC Case 6CPC Case 6

Kelsey, Jen, Matt G, Jeremy, Kelsey, Jen, Matt G, Jeremy, Nichole, Ryan, SueNichole, Ryan, Sue

HistoryHistory 7 year old male7 year old male Paternal aunt died of leukemia at age 29Paternal aunt died of leukemia at age 29 Short thumbs since birthShort thumbs since birth All vaccines up to dateAll vaccines up to date Symptoms starting 3 weeks priorSymptoms starting 3 weeks prior

– PalePale– Lethargy leading to decreased activityLethargy leading to decreased activity– No weight lossNo weight loss– No appetite change No appetite change – Mother denies cough, fever, vomiting, sweats, Mother denies cough, fever, vomiting, sweats,

or diarrhea or diarrhea

Physical ExamPhysical Exam

Brown Macules on handsBrown Macules on handsShort thumbs observed bilaterallyShort thumbs observed bilaterallyHEENT Exam: Unremarkable HEENT Exam: Unremarkable Chest: Lungs clearChest: Lungs clearHR 118: Normal (60-100bpm)HR 118: Normal (60-100bpm)

sinus tachycardia without gallops rubs or sinus tachycardia without gallops rubs or murmursmurmurs

Temp: 38.5C (101.3F) Low grade feverTemp: 38.5C (101.3F) Low grade feverBP: 120/72BP: 120/72

Brown MaculesBrown Macules

Differential Diagnosis?Differential Diagnosis?

Differential DiagnosisDifferential Diagnosis

HypothyroidismHypothyroidism InfectionInfection LeukemiaLeukemia AnemiaAnemia Sickle Cell AnemiaSickle Cell Anemia SpherocytosisSpherocytosis Childhood DepressionChildhood Depression

HypothyroidismHypothyroidism

Yes:Yes:– Fatigue-sleeping moreFatigue-sleeping more– Small thumbsSmall thumbs

No:No:– ConstipationConstipation– Rough dry skinRough dry skin– Short statureShort stature– HeadachesHeadaches– Vision problemsVision problems

TSH ($58)TSH ($58)

Normal: not hypothyroidismNormal: not hypothyroidism

CBC ($41)CBC ($41)

Test Normal Range Result Quick look

Platelet Count 150 - 400 89 low

Hemoglobin 13 - 18 8.4 low

Hematocrit 43 - 52 31 low

RBC 4.2 - 5.9 3.4 low

RDW 11 - 15 16 high

MCV 70 - 100 104 high

WBC 3.4 - 10.7 3.4 low?

InfectionInfection

Most commonly respiratory and Most commonly respiratory and urinary urinary – No respiratory symptomsNo respiratory symptoms– No UTI symptomsNo UTI symptoms

WBC not elevatedWBC not elevated

LeukemiaLeukemia

Low RBCLow RBC Low hematocritLow hematocrit No:No:

– Low hemaglobin Low hemaglobin – Weight lossWeight loss– Normal WBCNormal WBC

AnemiaAnemia

Low RBCLow RBC Low hemaglobin Low hemaglobin Low hematocritLow hematocrit What type?What type?

Iron ($61)Iron ($61)

Normal:Normal:– Not anemia of chronic diseaseNot anemia of chronic disease– Not iron deficient anemiaNot iron deficient anemia

Anemia

Peripheral Blood Smear

Run Reticulocyte # test

If Increased: think hemolytic

If normal retic values, check MCV

MCV results: IncreasedNormalDecreased

Indication:-Fe deficiency-thallassemia

-Anemia of chronic disease-Aplastic Anemia

- Folate/B12 deficiency (Pernicious anemia)

Peripheral Blood Smear Peripheral Blood Smear ($81)($81)

Normal or negativeNormal or negative Rules out:Rules out:

– Sickle cell anemiaSickle cell anemia– Spherocytosis: mild anemia with RBC Spherocytosis: mild anemia with RBC

spherically shaped spherically shaped

Sickle Cell AnemiaCrescent Shaped RBC

Megaloblastic AnemiaLarge RBC

B12 deficiency

SpherocytosisHereditary, mild anemia

Small RBC lacking light center

BLOOD SMEAR

Anemia

Reticulocyte Count ($24)Reticulocyte Count ($24)

Normal:Normal:– Not a hemolytic anemiaNot a hemolytic anemia

Anemia

Folate ($0)/B12 ($40)Folate ($0)/B12 ($40)

Since the MCV was high:Since the MCV was high:– Folate: Normal Folate: Normal – B12: normal- not severe pernicious B12: normal- not severe pernicious

anemiaanemia

Anemia

Bone Marrow Biopsy ($300)Bone Marrow Biopsy ($300)

Due to low platelets, RBC and WBCDue to low platelets, RBC and WBC– Markedly hypocellular for age (5%)Markedly hypocellular for age (5%)

all cell lines present in decreased all cell lines present in decreased numbers; no atypical infiltrates or numbers; no atypical infiltrates or granulomas identified.granulomas identified. Indicates anemiaIndicates anemia Would indicate leukemia if WBC precursors Would indicate leukemia if WBC precursors

were high and other precursors were low were high and other precursors were low

markedly hypocellular for age (5%)all cell lines present in decreased numbers; no atypical infiltrates or granulomas identified.

Causes of Aplastic AnemiaCauses of Aplastic Anemia

Autoimmune disorderAutoimmune disorder Benzene radiationBenzene radiation Drugs such as: Chloramphenical, Drugs such as: Chloramphenical,

carmizapinecarmizapine Viral hepatitis Viral hepatitis Systemic lupusSystemic lupus Idiopathic Idiopathic Congenital – Fanconi’s Congenital – Fanconi’s

Cytogenetics ($0)Cytogenetics ($0)

Multiple chromosomal breaks and Multiple chromosomal breaks and chromatin fragmentschromatin fragments– Confirms fanconi which inhibits DNA Confirms fanconi which inhibits DNA

repair mechanisms resulting in breaks in repair mechanisms resulting in breaks in the chromosomes the chromosomes

Cytogenetic analysis of peripheral blood lymphocytes shows multiple chromosomal breaks and chromatid fragments

CytogeneticsCytogenetics

Fanconi or Fanconi or Constitutional Aplastic AnemiaConstitutional Aplastic Anemia

Most common form of aplastic anemiaMost common form of aplastic anemia Inherrited autosomal recessiveInherrited autosomal recessive

– Other family members should be testedOther family members should be tested Light brown lesions-Café a lait Light brown lesions-Café a lait Skeletal abnormalities, especially thumbsSkeletal abnormalities, especially thumbs Hepatosplenomegdally not presentHepatosplenomegdally not present Development of cancers is common due to Development of cancers is common due to

an inability to repair DNAan inability to repair DNA– Could have been the cause of his aunt’s Could have been the cause of his aunt’s

leukemialeukemia

TreatmentTreatment

Cytokine therapy Cytokine therapy Palogenic stem cell transplantsPalogenic stem cell transplants CyclophosphamideCyclophosphamide Radiation Radiation No pets, antiseptic soaps, contact No pets, antiseptic soaps, contact

sports due to lack of platelets sports due to lack of platelets Prevention: vaccinations are Prevention: vaccinations are

immportant to avoid infectionsimmportant to avoid infections

Summary of TestsSummary of Tests Bone marrow-aspirate and biopsy ($300)Bone marrow-aspirate and biopsy ($300) Complete blood count ($41)Complete blood count ($41) Cytogenetics ($0)Cytogenetics ($0) Folate ($0)Folate ($0) Iron ($61)Iron ($61) Peripheral Blood Smear ($81)Peripheral Blood Smear ($81) Reticulocyte count ($24)Reticulocyte count ($24) Thyroid stimulating hormone ($58)Thyroid stimulating hormone ($58) Vitamin B12 ($40)Vitamin B12 ($40)

Total cost $604Total cost $604

Question 1Question 1

1.1. You should get a bone marrow You should get a bone marrow biopsy:biopsy:

a)a) Any time you suspect anemiaAny time you suspect anemia

b)b) When there are decreased RBCWhen there are decreased RBC

c)c) When all cells are decreasedWhen all cells are decreased

d)d) NeverNever

Aplastic Anemia can be caused by:Aplastic Anemia can be caused by:a)a) Spontanious and unknown causesSpontanious and unknown causes

b)b) Congenital changesCongenital changes

c)c) Viral HepatitisViral Hepatitis

d)d) All of the aboveAll of the above

Precautions you should advice Precautions you should advice patients with Fanconi to take patients with Fanconi to take include:include:

a)a) No petsNo pets

b)b) Antiseptic soapsAntiseptic soaps

c)c) No contact sportsNo contact sports

d)d) All of the aboveAll of the above

A cytogenics test was ordered in A cytogenics test was ordered in order to confirm fanconi which:order to confirm fanconi which:

a)a) Spontaneously causes mutations in Spontaneously causes mutations in DNADNA

b)b) Makes repair enzymes over reactiveMakes repair enzymes over reactive

c)c) Inhibits repair mechanismsInhibits repair mechanisms

d)d) Lyses cellsLyses cells

The reticulocyte count is typically The reticulocyte count is typically _____ and the MCV is typically ____ _____ and the MCV is typically ____ in aplastic anemia.in aplastic anemia.

a)a) High, lowHigh, low

b)b) Low, high Low, high

c)c) Normal, highNormal, high

d)d) Normal, normal Normal, normal

CPC Case 6 Kelsey, Jen, Matt G, Jeremy, Nichole, Ryan, Sue.

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