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Hematology > C28. Nonmalignant Leukocyte Disorders > Flashcards

C28. Nonmalignant Leukocyte Disorders Flashcards

1
Q

Most common genetic disorder of leukocytes

A

PHA (Pelger-Huet Anomaly)

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2
Q

Most common NEUTROPHIL anomaly

A

Myeloperoxidase (MPO) deficiency

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3
Q

Most common of the LYSOSOMAL LIPID STORAGE disease

A

Gaucher disease

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4
Q

Most common CHROMOSOME DELETION

A

Microdeletion in chromosome band 22q11.2

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5
Q

Most common cause of DECREASED EOSINOPHILS

A

Infection/Inflammation with neutropenia

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6
Q

Most common cause if BASOPHILIA

A

Presence of malignant myeloproliferative neoplasm

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7
Q

Most common cause of LYMPHOPENIA

A

Treatment with steroids

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8
Q

Subdivisions of Genetic Leukocyte Abnormalities

A
  1. Distinct morphologic alterations
    a. Nuclear abnormalities
    b. Cytoplasmic Abnormalities
  2. Functional abnormalities (morphologic changes often absent)
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9
Q

Diseases with Nuclear Abnormalities

A

Pelger Huet Anomaly

Hereditary neutrophil Hypersegmentation

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10
Q

Diseases with Cytoplasmic Abnormalities

A

Alder Reilly Anomaly
Chediak-Higashi Syndrome
May-Hegglin Anomaly

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11
Q

Diseases with Functional Abnormalities

A
  1. Chronic Granulomatous Disease
  2. Leukocyte Adhesion Disorders
  3. Misc. Granulocyte disorders:
    a. Hyperimmunoglobulinemia E (Job Syndrome)
    b. Lazy Leukocyte Syndrome
    c. Myeloperoxidase (MPO) deficiency
    d. Dibetes Mellitus
  4. Monocyte/Macrophage Lysosomal Storage Diseases:
    a. Mucopolysaccharidoses (MPS)
    b. Lipid storage diseases
    c. Gaucher disease
    d. Niemann-Pick disease
  5. B- and T-lymphocyte Abnormalities
    a. DiGeorge Syndrome (T)
    b. Sex-linked Agammaglobulinemia or XLA (B)
    c. Wiskott-Aldrich Syndrome (Combined B&T)
    d. Severe Combined Immunodeficiency or SCID (B&T)
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12
Q

AUTOSOMAL DOMINANT disorder resulting in DECREASED nuclear segmentation that is most apparent in neutrophils

A

Pelger-Huet anomaly (PHA)

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13
Q

Mutation of lamin B receptor

A

Pelger-Huet anomaly (PHA)

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14
Q

Integral protein in the inner nuclear membrane
Associated gene located on: chromosome band 1q41-43
(receptor mutation in PHA)

A

Lamin B receptor

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15
Q

Findings show a mutation of the integral protein in the inner nuclear membrane, with the associated gene located on chromosome band 1q41-43. What disease?

A

Pelger-Huet anomaly (PHA)

(Lamin B receptor

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16
Q

Granulocytes have nucleus that is segmented only once: wherein two distinct, rounded segments are connected by a very thin filament
Dense chromatin pattern that is highly clumped
What disease?

A

HETEROZYGOUS Pelger-Huet anomaly (PHA)

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17
Q

Give the characteristic of a HETEROZYGOUS Pelger-Huet anomaly (PHA)

A

Granulocyte nucleus is segmented only once, showing two distinct, rounded segments connected by thin filament
Dense chromatin pattern, highly clumped

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18
Q

True or False?

HETEROZYGOUS PHA does NOT affect the function of neutrophils.

A

True :)

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19
Q

True or False?

HOMOZYGOUS PHA is characterized by segmentation of the nucleus of granulocytes

A

False! The question is true of HETEROZYGOUS PHA.

Homozygous: NO SEGMENTATION, round or oval nuclei

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20
Q

Your findings show granulocyte nucleus that is round or oval and has NO SEGMENTATION
Chromatin is dense and clumped

A

HETEROZYGOUSE Pelger-Huet anomaly (PHA)

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21
Q

True or False?

Both Heterozygous and Homozygous PHA have DENSE and CLUMPED CHROMATIN

A

True
They are differentiated by the segmentation of their granulocyte nucleus.
Heterozygous (segmented, with thin filament connecting each rounded segment)
Homozygous (NO segment, but has round or oval nuclei)

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22
Q

This form of PHA may also be accompanied by impaired cognitive development, skeletal abnormalities, and heart defects.

A

HOMOZYGOUS Pelger-Huet anomaly (PHA)

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23
Q

You perform LEUKOCYTE DIFFERENTIATION COUNTS on blood samples from a patient suspected to have PHA. You’re worried you might’ve mistakenly identified an immature granulocyte as an abnormal cell. How would you determine that the cell you identified is indeed an abnormal cell indicative of either homozygous or heterozygous PHA?

In other words, what is the determining factor for you to say that the cell is the abnormal cell and not merely an immature granulocyte?

A

Along with characteristic features of granulocyte with segmentation of nucleus (heterozygous) or with no segmentation but with round/oval nucleus (homozygous) The cell must also show CLUMPED, DENSE CHROMATIN PATTERN

(Book on Leukocyte diff counts of px with PHA: may mistakenly identify the abnormal cells as immature granulocytes if the highly clumped, dense chromatin pattern is not noticed >.

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24
Q

This is an acquired form of nuclear hyposegmentation that may be seen in a variety of malignant myeloproliferative neoplasm.

A

Pseudo Pelger-Huet anomaly

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25
Q

Differentiate inherited PHA from pseudo PHA

A
  1. % of affected neutrophils: Inherited PHA > Pseudo PHA
    • Inherited PHA = greater than 80%
    • Pseudo PHA = fewer than 50%
  2. Pseudo PHA alterations are usually accompanied by other morphologic indications of malignancy (ex. prsence of blast forms

*** kunwari mas konti ung Pseudo kasi FAKE siya lol
Tapos dahil fake lang siya, meron pa siyang other morphologic indications of malignancy

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26
Q

True or False?

Inherited PHA has greater affected neutrophils than Pseudo PHA

A

TRUE

27
Q

What are the 2 disorders associated with HEREDITARY NEUTROPHIL HYPERSEGMENTATION?

A
  1. Benign autosomal dominant condition characterized by hypersegmented neutrophils with no clinical symptoms
  2. Myelokathexis characterized by hypersegmented neutrophils and bone marrow hyperplasia of myeloid cells
28
Q

True or False?
In Hereditary Neutrophil Hypersegmentation, MYELOKATHEXIS shows INCREASED programmed cell death (apoptosis) of granulocyte precursors

A

TRUE

29
Q

Differentiate the HYPERSEGMENTATION of NEUTROPHILS in Hereditary Neutrophil Hypersegmentation (benign autosomal dominant) from megaloblastic anemia

A

Hereditary Neutrophil Hypersegmentation: large majority of neutrophils are hypersegmented; no macrocytic anemia

Megaloblastic anemia: fewer than 50% of neutrophils are hypersegmented

30
Q

This Cytoplasmic Anomaly is transmitted as a recessive trait, characterized by granulocytes with large, darkly staining metachromatic granules that may resemble toxic granulation

A

Alder-Reilly Anomaly

31
Q

Describe the granulocytes found in Alder-Reilly Anomaly

A

large, darkly staining metachromatic granules that may resemble toxic granulation
granules composed of MUCOPOLYSACCHARID sometimes referred to as ALDER-REILLY BODIES or REILLY BODIES

32
Q

In severe forms of Alder-Reilly Anomaly, what characteristic of granulocytes are you expecting to find?

A

Granules may be found in monocytes and lymphocytes
(Along with usual characteristics: large, darkly staining metachromatic granules that may resemble toxic granulation, Alder-Reilly Bodies)

33
Q

What is the BASIC DEFECT in Alder-Reilly Anomaly?

A

Incomplete degradation of mucopolysaccharides (protein-carbohydrate complexes)
Structural abnormality in the myeloperoxidase gene may be found

34
Q

Shishio presented with INCOMPLETE DEGRADATION of mucopolysaccharides. What possible disease does he have?

A

Alder-Reilly Anomaly

Shishio = burned but did not die = INCOMPLETE (degradation of mucopolysaccharides LOL) = Rurouni Kenshin = Kenshin’s catch phrase ORO = ARA = Alder-Reilly Anomaly (LOL)

35
Q

Rare and fatal autosomal recessive dse characterized by cells with ENLARGED lysosomal vesicles

A

Chediak-Higashi Syndrome

36
Q

Relatively RARE type of PHA

A

Homozygous PHA

37
Q

True or False

In Chediak-Higashi Syndrome, ALL cells with lysosomal organelles are affected.

A

TRUE

this includes melanosomes of melanocytes, dense granules of platelets, and leukocyte granules

38
Q

True or False

In Chediak-Higashi Syndrome, a patient with a tendency to bleed is unusual.

A

FALSE
Px with Chediak-Higashi Syndrome has a tendency to bleed, (and also, frequent bacterial infection, symptoms of immunodeficiency, variable albinism, and progressive neurologic dysfunction)

39
Q

Mutation in the LYST GENE

A

Chediak-Higashi Syndrome

40
Q

This gene ENCODES for type of vesicle trafficking regulatory protein

A

LYST GENE (Mutation of this gene causes Chediak-Higashi Syndrome)

41
Q

Hematologic findings in Chediak-Higashi Syndrome?

A

GIANT lysosomal granule in granulocytes, monocytes, and lymphocytes
PLATELET ABNORMALITY from PROLONGED BLEEDING TIME
IMPAIRED granule release by thrombin

42
Q

These (3) autosomal dominant platelet disorders caused by mutations of MYH9 gene are characterized by LARGE BASOPHILIC INCLUSIONS IN LEUKOCYTES, THROMBOCYTOPENIA, and GIANT PLATELETS

A

A. May-Hegglin Anomaly (MHA)
B. Sebastian Syndrome (SBS)
C. Fechtner Syndrome (FS)

**Marco Saw Femaletitan (Titan = LARGE/ GIANT) (THROMBOCYTOPENIA = LOW amount of platelets (kasi isa lang FEMALE Titan. Low. LOL. hahaha)

43
Q

These (2) autosomal dominant platelet disorders caused by mutations of MYH9 gene are also associated with NEPHRITIS and DEAFNESS

A

Fechtner Syndrome

Epstein Syndrome

44
Q

Hanji noted that the Female Titan’s blood sample had leukocyte inclusions that can be described as “Döhle body-like”. What possible disease does said Titan have?

A

May-Hegglin Anomaly

45
Q

Differentiate Dohle body from MHA Inclusions

A
  1. Dohle bodies
    • made up of lamellar rows of RER
    • only in neutrophils
  2. MHA Inclusions
    • randomly placed rods in amorphous background
    • found in granulocytes and monocyte
    • stain very pale color in wright stain
46
Q

This disease is caused by INABILITY of phagocytes to PRODUCE SUPEROXIDE and reactive oxygen species
with DEFECT in 1 or more mutations in any 4 genes responsible for proteins that make up NADPH oxidase.

A

Chronic Granulomatous Disease

47
Q

T or F

Majority of Chronic Granulomatous Disease are X-LINKED RECESSIVE

A

True
X-linked: 60-65%
Autosomal recessive: 35-40%

48
Q

T or F

Catalase negative bacteria are usually involved in Chronic Granulomatous Disease

A

F

RARELY involved

49
Q

Is the Chronic Granulomatous Disease NEGATIVE or POSITIVE for the nitroblue tetrazolium reduction test?

A

NEGATIVE

Normal rxn of nitroblue tetrazolium: from yellow water-soluble nitroblue tetrazolium to dark blue insoluble formazan

50
Q

T or F
In Chronic Granulomatous Disease, FLUORESCENT PROBE is used in flow cytometry to measure intracellular production of reactive oxygen species

A

TRUE

Example of Fluorescent probe: DIHYDROHODAMINE-123

51
Q

This is the INABILITY of NEUTROPHILS and MONOCYTES to ADHERE to endothelial cells and to TRANSMIGRATE from the blood to the tissues

A

Leukocyte Adhesion Disorders

–> This then results to an INCREASED potentially lethal bacterial infections

52
Q

T or F

Leukocyte Adhesion Disorders results in decreased potentially lethal bacterial infections

A

False
INCREASED

***Levi Ayaw Disease kaya palagi siyang naglilinis kasi LAD results in INCREASED bacterial infections. eeew.

53
Q

What gene mutation causes LAD-I?

A

Gene responsible for beta2 integrin subunits (CD11/CD18)

54
Q

T or F

LAD-I will cause DECREASE beta2 integrins

A

True
It will cause decrease or defective beta2 integrins (which are necessary for ADHESION to endothelial cells, RECOGNITION of bacteria, and outside-in SIGNALING)

55
Q

T or F

It is unusual for patients with LAD-I to have NEUTROPHILIA

A

FALSE

Px with LAD-I FREQUENTLY have neutrophilia

56
Q

T or F

LAD-I is more common than LAD-II

A

True

LAD-II us RARER than LAD-I

57
Q

Differentiate LAD-I from LAD-II

A

LAD-II LEUKOCYTES have NORMAL beta2 integrins
May have mental retardation, growth defects, and/or deficiency in H blood group Ag –> BASIC DEFECT: faulty ligands for selectin adhesive molecules

58
Q

Similar traits between LAD-I and LAD-II

A

Recurrent infection, Neutrophilia, Impaired pus formation

59
Q

This functional abnormality presents with GLANZMANN THROMBASTHENIA-LIKE bleeding problems, increased/recurrent bacterial infection, neutrophilia but with NORMAL INTEGRIN expression

A

LAD-III

60
Q

What is the BASIC defect/mutation in LAD-III?

A

Mutation in KINDLIN3, gene responsible for a protein that binds to beta2 integrin subunit

61
Q

Skipper, 22/M, came to your hospital because of recurrent bacterial infections. Upon physical examination, the patient was discovered to have skeletal abnormalities. Lab results show normal RBC, however neutrophils are poor in directional motility. What is your diagnosis? (Poor Skipper)

A

Hyperimmunoglubulinemia E or Job syndrome

62
Q

A patient came in to your clinic with high grade fever and infection of the left ear. Upon lab examination, RBC level is 4.32-5.72 x10^12/L, Neutrophil level is 0.5-1.0 x 10^9/L, Hematocrit is 13.5-17.5 grams/dL and platelet count is 150-450 x10^6/L. The patient is most likely suffering:

A

Lazy leukocyte syndrome
Characterized by:
1. Neutropenia: low neutrophil count 0.5-1.0 x 10^9/L. Normal is 2.5-7.5 x 109/L
2. poor neutrophil response to chemotactic agents: Infection of the left ear

63
Q

Myeloperoxidase (MPO) deficiency is known as the most common neutrophil abnormality. Where is the MPO gene located and how many mutations are identified?

A

Chromosome 17; 10 mutations

64
Q

Diabetes Mellitus is either an acquired or inherited disorder. It is characterized by the inability to metabolize blood glucose. In elevated blood sugar levels, what is the most consistent abnormality of neutrophils?

A

Abnormal oxidative burst activity

Hematology (13 decks)

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