Heme Cases Tacls 2013

8/10/2019 Heme Cases Tacls 2013

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HEMATOLOGY CASE STUDIESCase Studies

Jean Sparks, PhD, MLS(ASCP)

TACLS 2013


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John

Chemistry panel included electrolytes, liver function, renalfunction, calcium, protein: normal

CBC WBC 11.4 x 103/uL Differential:

RBC 5.02 x 106/uL 74 segs HGB 15.3 g/dL 2 bands

HCT 45.8 % 19 lymphs

MCV 91.2 fL 4 monos

MCH 30.5 pg 1 eo

MCHC 33.4 %

RDW 12.3%

PLT 63 x 103/uL

MPV 11.7 fL


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John

www.pathology.unm.edu


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www.cellavision.com


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John

Peripheral smear: tech reported

out many Dohle bodies present and

large platelets, few giant platelets

www.quizlet.com


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John

www.flashcardexchange.com


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John

What anomaly does John have?

May Hegglin Anomaly

What are the cytoplasmic inclusions?

Dohle-like bodies

What cells can the inclusions be found in?

neutrophils

What is the inheritance pattern?

Autosomal dominant

John was told to refrain from contact sports, avoid trauma,

dont take drugs that decrease platelet function and

consult a hematologist before surgical procedures.


9/45

May-Hegglin Anomaly

Caused by a mutation MYH9 gene on chromosome

22q12-13

Mutation results in disordered production of nonmuscle

myosin heavy chain type IIa which leads tomacrothrombocytopenia

Inclusions are precipitates of myosin heavy chains

May-Hegglin is one of a family ofmacrothrombocytopenias characterized by mutations in

the MYH9 gene


10/45

May-Hegglin Anomaly

Epidemiology

Exact incidence is unknown, about 180 cases have

been reported in literature

Italy, France, Germany, North America, Japan

Clinical Presentation

Asymptomatic or mild bleeding

Signs of bleeding may be subtle, bruising, bleeding

gums


11/45

May-Hegglin Anomaly

Laboratory Findings

Platelet count decreased, variable, usually 40-

80,000/mm3

Giant platelets >15 um MPV elevated

Platelet morphology and function is normal

Peripheral smear shows blue, spindle-shaped Dohle-

like bodies in neutrophils (monos, eos, basos, segs) CBC usually normal

Bleeding time can be prolonged if platelet count is low

Bone marrow is normal


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May-Hegglin Anomaly

MHA is one of MYH9 syndromes (group that includes 3

other allelic variants with similar phenotypic expressions)

Condition Macrothrombo-

cytopenia

Granulocyte

Inclusions

Nephritis/

Deafness

Cataracts

MHA Yes Dohle-like No No

Epstein Yes Absent or faint Yes No

Fechtner Yes Spherical Yes Yes

Sebastian Yes Spherical No No


13/45

May-Hegglin Anomaly

MYH9 gene is expressed in some blood cells (neutro,

mono, plts), in cochlea and kidneys

Molecular anomalies result in abnormal dimerization of

MYHIIa protein which becomes unstable and co-precipitates with normal MYHIIa and forms inclusion

bodies in cytoplasm of neutrophils

Abnormal dimerization leads to failure to properly

organize cytoskeleton in megakaryocytes which triggersmacrocytic thrombopenia


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May-Hegglin Anomaly

Characterized by triad

1. Giant platelets

2. Thrombocytopenia

3. Dohle-like inclusions in neutrophils

Must distinguish between 10and 20thrombocytopenia

to avoid unneccesary treatment

Platelets can be underestimated on automatedanalyzers due to abnormally large size


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Emily

Emily, a 28 year old healthy female, came to the

ER because she could feel something moving in

her eyes and it was driving her crazy. She had no

other symptoms. The resident asked her if shehad traveled outside the US recently. She

indicated that she had spent several months in

Africa for missionary work but she had returned

6-8 months ago. The resident examined her eyesand ordered a CBC.


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Emily

The CBC was normal with a slight elevation in eosinophilsA slide was prepared for a differential The technologist

made several slides and performed the diff on 50X oilimmersion.

After completing the diff, the tech was scanning severalfields for rbc morphology


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Emily

What does the patient have?

Loa Loa (eye worm)

How is diagnosis made?

Blood smear for presence of larvae or visualization of

eye worm on surface of eye

How is Loa Loa transmitted?

African deer fly (Chrysops)


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Loa Loa

Location

Central and West Africa in dense canopies of

rainforests

Transmission

African deer fly becomes infected after a blood meal

on infected person, usually bites during the day

Itg.content-e.eu


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Loa Loa

http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm


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Loa Loa

Signs and Symptoms

Calabar swellings (itchy, localized swellings)

anywhere on body, non-tender

Adult worm in eye or under skin causing itchinessand irritation

Increased eos


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Loa Loa

Diagnosis

Presence of larvae of blood smear

Visualization of adult eye worm on surface of eye

Although eyeworm is distressing, it causes minimaldamage to eye


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Loa Loa

Treatment

Surgically remove to provide relief of localized

symptoms

Treat to kill parasite in body


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Andrew

Andrew and his brother Alex were 6 year old twins. They

had been playing outside all day and decided to take a

swim in the apartment pool. The next day, Andrew spiked

a fever and was complaining of a bad headache. His

parents took him to the childrens hospital where he wasadmitted.

His admission WBC count was 14.5 x 103/uL.

A lumbar puncture produced a hazy CSF CSF glucose 11 mg/dL (60% plasma glucose)

CSF protein 458 mg/dL (15-45 mg/dL)

CSF WBC 902 cells/mm3

Differential 90% neutrophils, 10% lymphs


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Andrew

This was observed on his CSF cytospin differential slide in

Hematology.

http://parasite.org.au/pugh-collection/Naegleria%20fowleri%20%207%2005.jpg_Index.html


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Andrew

Gram stain CSF smears showed many WBCs; no

organisms seen and cultures for bacteria were negative

Wet mount of the CSF confirmed trophozoite forms

Day 3, the total WBC count was up to 21.2 x 103/uL with

91% neutrophils and Andrew was moved to intensive

care.

Andrew became lethargic and unresponsive to stimulation

and was pronounced dead 4 days after admission.

Samples were sent to CDC for confirmation


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Andrew

What did Andrew have?

Naegleria fowleri

Primary Amebic Meningoencephalitis (PAM)

How did he contract it?

Swimming in stagnant swimming pool

What is the infective stage?

Ameboid trophozoites


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Naegleria fowleri

Rare but severe infections, more common in young boys

Of 123 people known to have been infected in US since

1962, only 1 survived, 107 were < 18 years old

Over half of reported infections have occurred in Texas

and Florida

Infections occur when water containing the ameba entersbody through nose and travels to brain via olfactory

nerves

Destroys brain tissue causing brain swelling and death


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Naegleria fowleri

Locations

Bodies of warm freshwater, lakes, rivers

Hot springs

Warm water discharge from industrial plants

Geothermal drinking water sources

Swimming pools poorly maintained, minimally or

unchlorinated

Water heaters

Soil


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Naegleria fowleri

Pathogen Life Cycle

3 stages:

Ameboid trophozoites

Flagellates Cysts

http://www.cdc.gov/parasites/naegleria/pathogen.html


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Naegleria fowleri

http://www.cdc.gov/parasites/naegleria/pathogen.

html


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Naegleria fowleri

Naegleria fowleri is the only species that affects

people

N. fowleri grows best at 1150F (460C), but will not

survive in salt water 1stinfection reported in 1961 in Austrailia, 2nd

infection reported in 1962 in Florida

2 survivors recorded, one in California in 1978and one in Mexico in 2003


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Anastasia

Anastasia was a 9 year old female who was

hospitalized by her pediatrician at the childrens

hospital for a recurrent sore throat and fever. She

had been through several rounds of oralantibiotics.

Her CBC showed an elevated WBC with a high

percentage of monocytes with abnormal

morphology and upon scanning the smear, one

blast was observed.


34/45

Anastasia

CBC

WBC 18.3 x 103/uL Differential:

RBC 3.03 x 106/uL 34 segs

HGB 10.3 g/dL 3 bands HCT 29.6% 18 lymphs

MCV 97.1 fL 45 monos, abnormal

MCH 33.2 pg MCHC 34.9 %

PLT 143 x 103/uL

MPV 7.5


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Anastasia

www.labmed.ascpjournals.org


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Anastasia

The hematologist happened to come down to the labto check on her patients and was asked to look at theslide. It was not her patient. She called her oncologyresident to check on the patient to determine what

she was being seen for.

The resident reported that the patient was on IVantibiotics for recurrent sore throat and fever. Shewas released 2 days later, but her WBC count and

differential never changed.

2 weeks later, Anastasia was seen in the ER at adifferent hospital and was referred to thehematologist at the childrens hospital.


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Anastasia

Anastasias admission CBC was similar to the

first CBC she had done at the childrens hospital

with similar percentages of monos and a few

blasts.

What do you think was wrong with Anastasia?

Chronic Myelomonocytic Leukemia (CMML-JMML)


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CMML (JMML)

Clonal hematopoietic neoplasm characterized by

the proliferation of granulocytic and monocytic

lineages.

Blood has persistent monocytosis (>1 x 103/uL)with < 5% blasts (includes promonocytes)

Usual age ranges > 50 years (CMML) and < 6

years (JMML)

WHO classifies CMML and JMML as mixed

myelodysplastic/myeloproliferative disease


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JMML

Diagnosis of JMML (2001)

Persistant elevated monocyte count in blood (


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Mrs. Weber

CBC

WBC 81 x 103/uL Differential:

RBC 3.49 x 106/uL 82 lymphs

HGB 10.9 g/dL 18 segs

HCT 33.1 %

MCV 94.8 fL

MCH 31.2 pg

MCHC 32.9 %

PLT 133 x 103/uL


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Mrs. Weber

What do you think Mrs. Weber has?

Chronic Lymphocytic Leukemia


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CLL

Most common type of leukemia in older adults

Most frequently involves B lymphocytes

Lymphocytosis

Small mature lymphs, with hyper-condensednuclear chromatin pattern, look like normal

mature lymphs with Wrights stain

Smudge cells, or bare nuclei are often present


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CLL

Signs and symptoms develop gradually and it is

not unusual to accidentally discover the disorder

during a routine visit

No prominent nucleoli Scanty cytoplasm

Homogeneous population

Weak sIG (IgM, IgD), HLA-DR, CD5, CD19/20/24


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The best part of the story..

Mrs. Webers family physician came to the ER to

see his patient. When he got the results of the

CBC, he came to the lab to look at the slide and

said:I wondered what that thick white layer was on the

red cells

Priceless!

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Heme Cases Tacls 2013