Chapter 13 - White Blood Cell Disorders Flashcards

0
Q

Give an example of a disease with a WBC structure defect.

A

Structure defect: Chédiak-Higashi syndrome

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1
Q

What do qualitative WBC defects refer to?

A

Qualitative WBC defects: structure and/or function

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2
Q

Give two examples of WBC function defects.

A

Function defect: selectin deficiency, CD11a/CD18 deficiency

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3
Q

Give an example of a WBC phagocytosis defect.

A

Phagocytosis defect: Bruton agammaglobulinemia

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4
Q

Give two examples of WBC microcidal defect.

A

Microbicidal defect: MPO/NADPH oxidase deficiencies

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5
Q

What are the clinical findings in qualitative WBC defects?

A

Qualitative WBC defects: unusual pathogens, “cold” abscesses, frequent infections

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6
Q

What is Job syndrome?

A

Job syndrome: defect in chemotaxis; ↑IgE

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7
Q

What is the equation to determine the absolute count of WBC?

A

Absolute count = % leukocytes × total WBC count

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8
Q

What is a leukemoid reaction?

A

Leukemoid reaction: benign, exaggerated WBC response

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9
Q

What is leukoerythroblastosis?

A

Leukoerythroblastosis: immature WBCs/nucleated RBCs in peripheral blood

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10
Q

What are the causes of leukoerythroblastosis?

A

Causes: infiltrative disease; metastasis; granulomatous disease; leukemia
Other causes: trauma with multiple fractures; EMH

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11
Q

What is the probable diagnosis if a woman >50 years presents with leukoerythroblastosis?

A

Leukoerythroblastosis in woman >50 yrs: probable breast cancer metastatic to bone

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12
Q

How is neutrophilic leukocytosis defined?

A

Neutrophilic leukocytosis: >7500 cells/mm3

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13
Q

What are the causes of neutrophilic leukocytosis?

A

Causes: bacterial infection, sterile inflammation with necrosis, corticosteroids

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14
Q

Describe the pathogenesis of neutrophilic leukocytosis.

A

Pathogenesis: ↑production, ↓activation neutrophil adhesion molecules

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15
Q

How is neutropenia defined?

A

Neutropenia: <1500 cells/mm3

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16
Q

What are the causes of neutropenia?

A

Causes: aplastic anemia, immune destruction (SLE), septic shock
Causes: drugs (penicillin), tick-borne diseases, viral infections
Causes: bacterial infection (TB, typhoid, brucellosis); systemic fungi; ionizing radiation

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17
Q

Describe the pathogenesis of neutropenia.

A

Pathogenesis: ↓production, ↑destruction, ↑activation neutrophil adhesion molecules

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18
Q

How is eosinophilia defined?

A

Eosinophilia: >400 cells/mm3

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19
Q

What are the causes of eosinophilia?

A

Causes: type I HSR, invasive helminths, D. fragilis, hypocortisolism

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20
Q

What is a cause of eosinopenia?

A

Eosinopenia: hypercortisolism

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21
Q

Which disease should be considered if basophilia is present?

A

Basophilia: consider myeloproliferative disease

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22
Q

How is lymphocytosis defined?

A

Lymphocytosis: >5000 cells/mm3 (adult); >8000 cells/mm3 (child)

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23
Q

What are the causes of lymphocytosis?

A

Causes: viruses (mononucleosis, CMV), bacteria (whooping cough, TB)
Causes: drugs (phenytoin, tetracycline); Graves disease, CLL

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24
What are the causes of atypical lymphocytosis?
Atypical: infection (mononucleosis, CMV, toxoplasmosis, viral hepatitis); drugs (phenytoin)
25
Describe the pathogenesis of atypical lymphocytosis.
Atypical lymphocytes: antigenically stimulated
26
What causes mononucleosis?
Mononucleosis: EBV
27
Describe the pathogenesis of mononucleosis.
B cells have CD21 receptor sites for EBV; atypical B cells Mono: cytotoxic T cells control infected B cells; atypical lymphocytes Mono: EBV dormant in B cells; relapses may occur
28
What are the clinical findings of mononucleosis?
Mono: fatigue; exudative tonsillitis/petechiae in posterior palate; tender hepatosplenomegaly Mono: painful lymphadenopathy; pruritic rash with ampicillin/amoxicillin
29
What are the lab findings in mononucleosis?
Mono: atypical lymphocytes >20% Mono heterophile antibodies: IgM antibodies directed against horse, sheep, bovine RBCs Anti-VCA lgG/IgM: excellent test if mono screening test is negative
30
How is lymphopenia defined?
Lymphopenia: <3000 cells/mm3 (child)
31
Describe the characteristics of lymphopenia in HIV.
Lymphopenia in HIV: lysis CD4 helper T cells by virus
32
What benign quantitative WBC disorders are caused by corticosteroids?
Corticosteroids produce neutrophilic leukocytosis, eosinopenia, and lymphopenia
33
How is monocytosis defined?
Monocytosis: >800 cells/mm3
34
What are the causes of monocytosis?
Monocytosis: chronic infection, autoimmune disease, malignancy
35
What is leukemia?
Leukemia: malignant transformation marrow stem cells
36
What are the risk factors for leukemia?
Risk factors: Down syndrome; ionizing radiation; benzene; alkylating agents Risk factors: chronic myeloproliferative disorders, PNH, smoking, immunodeficiency disease
37
What is the most common leukemia and overall cancer in children?
ALL: MC leukemia/cancer in children
38
Who is affected by AML and CML?
AML/CML: 40–60 years old
39
Who is affected by CLL?
CLL: MC >60 years
40
What is the most common overall type of leukemia?
CLL MC overall type of leukemia
41
Describe the pathogenesis of leukemia.
Leukemia: arises in marrow → disseminates; never benign
42
Describe the onset of symptoms in acute leukemia.
Acute leukemia: abrupt onset
43
Which type of leukemias involve the skin?
Skin involvement: T-cell leukemias
44
Where does ALL metastasize to?
ALL: CNS, testicle involvement
45
What is the most important test for diagnosing leukemia?
Most important test for diagnosing leukemia: bone marrow examination
46
What are the lab findings in leukemia?
Leukemia: ↑peripheral count, thrombocytopenia, normocytic/macrocytic anemia Acute leukemia: blast cells >20% in bone marrow
47
Describe the onset chronic leukemia.
Chronic leukemia: insidious onset
48
What are the clinical findings in chronic leukemia?
Hepatosplenomegaly, generalized painless lymphadenopathy
49
What are the lab findings in chronic leukemia?
Chronic leukemia: blasts <10% in bone marrow
50
What are all myeloid disorders?
Myeloid disorders: neoplastic stem cell disorders
51
What is the most common chronic myeloproliferative disorder?
Polycythemia vera: MC chronic myeloproliferative disorder
52
What are the general characteristics of the chronic myeloproliferative disorders?
Splenomegaly, marrow fibrosis, some transformation to acute leukemia
53
How is polycythemia defined?
Polycythemia: ↑Hb, Hct, RBC count
54
How do the RBC count and RBC mass differ?
RBC count: # RBCs per microliter (µL) | RBC mass: total # RBCs peripheral blood in mL/kg
55
What are the findings in relative polycythemia?
Relative polycythemia: ↑RBC count; ↓PV; normal RBC mass, SaO2, EPO
56
What are the findings in appropriate absolute polycythemia?
Appropriate absolute: ↑RBC mass, EPO; normal PV; ↓SaO2
57
What are the findings in inappropriate absolute polycythemia?
Inappropriate absolute (ectopic secretion EPO): ↑RBC mass, EPO; normal PV, normal SaO2
58
How is polycythemia vera defined?
Polycythemia vera: inappropriate absolute polycythemia
59
What is the mutation in polycythemia vera?
Polycythemia vera: mutation in JAK2 gene
60
What are the clinical findings in polycythemia vera?
Polycythemia vera: thrombotic events (hepatic vein, dural sinus, retinal vein) Polycythemia vera: pruritus after bathing, mast cells release histamine Polycythemia vera: peptic ulcer disease, gout
61
What is the best initial test for polycythemia vera?
Polycythemia vera: serum EPO best initial test
62
What are the lab findings in polycythemia vera?
Polycythemia vera: ↑RBC mass, ↓EPO; ↑PV, normal SaO2
63
What is the only polycythemia with increased PV and decreased EPO?
Polycythemia vera: only polycythemia with ↑PV and ↓EPO
64
What is the treatment for polycythemia vera?
Polycythemia vera: phlebotomy reduces viscosity-induced thrombosis
65
Describe the pathogenesis of CML.
CML: t(9;22) translocation of ABL proto-oncogene; fusion with BCR
66
What is the Philadelphia chromosome?
Philadelphia chromosome = chromosome 22 with translocation
67
What is the most consistent finding in CML?
CML: splenomegaly most consistent finding
68
What is the only leukemia with thrombocytosis?
CML: only leukemia with thrombocytosis
69
What is the most sensitive/specific test for CML?
BCR-ABL fusion gene: most sensitive/specific test for CML
70
How is the LAP score affected in CML?
CML: ↓LAP score; little to no alkaline phosphatase in leukemic cells
71
What are the lab findings in CML blast crisis?
CML blast crisis: myeloblasts/lymphoblasts; no Auer rods
72
Most cause of myelofibrosis with myeloid metaplasia are due to what mutation?
MMM: mutation JAK2 gene
73
What are the findings in MMM?
MMM: EMH; marrow fibrosis; massive splenomegaly MMM: teardrop RBCs; leukoerythroblastosis
74
What is essential thrombocythemia?
ET: dysplastic/nonfunctional platelets; ↑platelets
75
Most cases of ET are due to what mutation?
ET: mutation in JAK2 gene
76
Describe the clinical findings in ET.
ET: bleeding because platelets dysfunctional
77
What are the lab findings of ET?
ET: megakaryocytes dysplastic/numerous
78
What is MDS characterized by?
MDS: cytopenias; hypercellular marrow
79
What percentage of MDS cases progress to AML?
MDS: >30% progress to AML
80
What are the lab findings in MDS?
MDS: dimorphic RBC population; leukoerythroblastosis MDS: ringed sideroblasts in some types (bone marrow)
81
What are the risk factors for AML?
AML risks: ionizing radiation, benzene, MDS, Down/Turner/Klinefelter
82
Which chromosome has mutations in AML?
AML: mutations chromosome 8
83
What is a clinical finding in acute monocytic leukemia?
Acute monocytic leukemia: gum infiltration
84
What is a lab finding of CML?
AML: Auer rods in cytoplasm of myeloblasts
85
What lab finding is in AML but not CML?
Auer rods: only AML; not CML
86
What is the most common type of acute lymphoblastic leukemia?
ALL: pre–B-cell MC type
87
What is the most common type of ALL?
ALL: CD10 and TdT positive; MC type (early pre-B cell)
88
What translocation in early pre-B cell ALL offers a favorable prognosis?
ALL: t(12;21) offers favorable prognosis
89
What percentage of early pre-B cell ALL cases are considered cured?
ALL: ~3/4 cured
90
Where does ALL metastasize to?
ALL: B-cell types metastasize to testicles/CNS ALL: T-cell types metastasize to skin
91
Adult T-cell leukemia is associated with what virus?
Adult T-cell leukemia: association with HTLV-1
92
What does the TAX gene do in adult T-cell leukemia?
TAX gene: inhibits p53 suppressor gene
93
What are the clinical findings in adult T-cell leukemia?
Adult T-cell leukemia: skin lesions; lytic bone lesions with hypercalcemia
94
What is the most common overall leukemia in Western countries?
CLL: MC overall leukemia
95
What is the most common cause of generalized lymphadenopathy in individuals >60 years old?
CLL: MCC generalized lymphadenopathy >60 years old
96
What are the lab findings in CLL?
CLL: hypogammaglobulinemia; smudge cells CLL: hypogammaglobulinemia common
97
What type of leukemia is hairy cell leukemia? What is the primary site for neoplastic cells?
HCL: B-cell leukemia; spleen primary site for neoplastic cells
98
What is uncommon in HCL?
HCL: lymphadenopathy uncommon
99
What are the lab findings in HCL?
HCL: hair-like projections; positive TRAP stain
100
HCL has a dramatic response to what treatment?
HCL: dramatic response to purine nucleosides