Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Hematology 2 Summer 2023 > Nonmalignant Leukocyte Disorders > Flashcards

Nonmalignant Leukocyte Disorders Flashcards

1
Q

List as many congenital defects of leukemia

A

SCID
Wiskott-Aldrich Syndrome
22q11 Syndromes
Chediak-Higashi Syndrome
Chronic Granulomatous Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is SCID?

A

Patients with few or no T cells and B cells with abnormal function that also affect granulocytes. Its caused by a mutation to the IL-2 receptor.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What mutation leads to SCID?

A

Mutation to the IL-2 receptor.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

The hematopoietic variant of SCID can kill patients how fast?

A

In the first few months of life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is a possible solution to SCID?

A

Bone Marrow Transplant (BMT) that can be curative but not in all cases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Wiskott-Aldrich Syndrome (WAS) is characterized by…

A

B and T cells have abnormal function. Patients usually have recurrent infections, eczema, and thrombocytopenia.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Describe Wiskott-Aldrich Syndrome (WAS)’s genetic aspect.

A

Its a rare sex-linked recessive mutation. It manifests defective CD43.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Describe patient’s survival with Wiskott-Aldrich Syndrome

A

Boys usually do not survive beyond adolescence.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What three conditions can go on to develop non-hodgkin’s lymphoma?

A

SCID (Severe Combined Immunodeficiency Syndrome)
WAS (Wiskott-Aldrich Syndrome)
22q11 Syndromes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Describe 22q11 syndromes

A

They include multiple immunodeficiency disorders that involve the absence or decreased size of thymus and T-lymphs. This occurs because of the 22q11 deletion.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is associated with 22q11 deletion?

A

Cardiac defects
Developmental delays
Psychiatric disorders
Short stature
Hypocalcemia
Thrombocytopenia and large platelets
^^^ risk of malignancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the treatment for 22q11 deletion?

A

Thymic tissue transplantation or T-cell transplantation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the outlook for patients with 22q11 syndromes?

A

High death rate. Most do not survive past the first year

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Chediak Higashi syndrome inheritance is…?

A

Autosomal recessive (rare). The condition happens because of the mutation in CHS1 LYST gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the microscopic characteristic of Chediak-Higashi syndrome?

A

-Characterized by gigantic, fused, primary, and secondary granules. Granule fusion cause WBCs to kill ineffectively
-Dense granules in platelets that are normal sized
- Prone to infections and bleeding issues
-Granulocytes and lymphocytes are peroxidase positive lysosomes.
-Patients can have neutropenia from increase cell death in bone marrow.

Remember “Chediak Higashi = Giant Granules in all WBCs”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

True or false, Chediak Higashi syndrome can effect other species.

A

True, it is seen in killer whales, cats, mice, mink and cattle.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Inheritance of chronic granulomatous disease (CGD) is…?

A

Autosomal recessive. 60% x-linked, 40% autosomal recessive.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What happens to patients’ WBCs with chronic granulomatous disease (CGD)?

A
  • Patients’ WBC granules fuse to large size. Granule fusion. Catalase + bacteria do not generate enough peroxide to trigger myeloperoxidase (MPO) activity. Bacteria multiple within phagolysosomes causing chronic infections characterized by granuloma formation.
    Note: Neutrophil levels are normal until infection
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

How is chronic granulomatous disease (CGD) tested for?

A

Nitroblue tetrazolium slide test (NBT)
Negative result - Neutrophils (normal) reduce yellow nitroblue to dark blue rxn.
Positive result - Neutrophils do not reduce yellow nitroblue

20
Q

Describe Pelger-Huet Anomaly

A

Benign, autosomal dominant disorder.
Neutrophil functions normal. They are hyposegmented (bi-lobed or unilobe).

21
Q

Differentiate Pseudo Pelger-Huet versus True Pelger-Huet

A
  • True Pelger Huet is inherited and effects a greater number of WBCs than pseudo-
    -Pseudo PHA WBCs are often hypogranular while true PHA have normal granulation
22
Q

What is pseudo Pelger-Huet associated with?

A

Myelodysplastic syndromes (MDS), AML, CML, and HIV infections

23
Q

Describe Twinning of neutrophils

A

A nucleus with axial symmetry (mirror image).

24
Q

What is Twinning of WBCs associated with?

A

Malignancies and chemotherapy

25
Q

Hypersegmentated neutrophils are associated with?

A

Megaloblastic anemias and myelokathexis (rare)

26
Q

What is the inheritance of May-Hegglin anomaly?

A

Autosomal dominant - Rare. There is a mutation in the MYH9 gene on chromosome 22q12-13. Patients will usually have no clinical abnormalities. 1/3 of patients show variable hemorrhagic problems depending on platelet counts (40k - 80k plts. / uL)

27
Q

A patient with May-Hegglin Anomaly is characterized by…?

A

Leukopenia, variable thrombocytopenia, and giant platelets with abnormal function.
White blood cells will have Dohles bodies like that are bigger gray blue RNA inclusions. The inclusions are a combination of rods, and granules (ribosomal).

Note: May-Hegglin = Pseudo-Dholes & giant platelets!

28
Q

Alder-Reilly Anomaly occurs because of a mutation to what gene? (gene location isn’t specified in lecture slides)

A

The gene that codes for myeloperoxidase

29
Q

Alder-Reilly Anomaly is characterized by…

A

-Decrease degrdation of mucopolysaccharides leading to deposition of lipids in cytoplasm
- Clusters of large primary nonspecific, azurophilic granules resembling severe toxic granulation. It is seen in all WBCs even though neutrophils normally have toxic granulation only.

Remember Alder-Reilly = Pseudo-Toxic granulation!

30
Q

What are some criterias to make sure WBCs do not have real toxic granulation?

A
  • No neutrophilia
  • No Dohle bodies present
  • No left shift (more bands observed)
  • Occurs in wrong cells such as lymphs and monos
31
Q

What are the three major disorders found in Ashkenazi jewish population?

A
  1. Gaucher’s Disease
  2. Niemann-Pick Disease (NPD)
  3. Familial Sea-Blue Histiocytosis
32
Q

Describe Gaucher’s Disease

A

-Accumulation of unmetabolized sphingolipid glucocerebroside. Gaucher cells usually seen in bone marrow and spleen and do not affect erythropoiesis.

33
Q

What are gaucher cells?

A
  • They are large macrophages that have eccentrically placed nuclei and cytoplasm with crinkled appearance like crumpled tissue paper.
    -They are stained with periodic acid schiff stain because of their glycogen content.
34
Q

What are the clinical symptoms of gaucher’s disease?

A

Accumulation of lipids in macrophages leads to
-Bone pain and splenomegaly
Development of Splenomegaly
-Leukopenia, thrombocytopenia, and variable anemia
Other symptoms are neurologic symptions and vacuolated lymphs.

35
Q

What is the treatment for Gaucher’s Disease?

A

Infusion with (r) Glucocerebrosidase.

36
Q

Describe Niemann-Pick Disease (NPD)

A

Lack of spingomyelinase causes accumulation of spingomyelin in macrophages of bone marrow, spleen, liver, and brain. Macrophages from NPD patients are called foam cells with eccentric nuclei and foamy texture cytoplasm.

37
Q

What are the clinical symptoms of Niemann-Pick Disease?

A

Clinical symptoms are poor physical development, extreme enlarged spleen and liver, and vacuolated lymphs.

Due to splenomegaly patients can have leukopenia, thrombocytopenia, and variable anemia.

38
Q

What is the treatment for Neimann-Pick Disease?

A

Bone marrow transplant. There is no other options for treatment.

39
Q

Describe Familial Sea-Blue Histiocytosis

A

Unknown specific enzyme deficiency. Enlarged tissue macrophages in spleen, liver and bone marrow show numerous lipid granules that stain blue green with wright’s stain. These cells are seen in CML and NPD too.

40
Q

What are the clinical symptoms of familial sea blue histiocytosis?

A

Hepatosplenomegaly and thrombocytopenia

41
Q

What are the signs of infectious mononucleosis?

A

Reactive lymphs in peripheral blood and a positive heterophile test.

42
Q

What are the clinical features of infectious mononucleosis?

A

-Incubation 3 - 7 weeks; lasting 1-3 weeks
-Fever, pharyngitis, and bilateral cervical lymphadenopathy
-Nonspecific malaise and fatigue

43
Q

What are some complications of infectious mononucleosis?

A

Aplastic anemia, DIC, TTP, splenomegaly, cold agglutinin disease, and hepatitis

44
Q

What are some lab features of infectious mononucleosis?

A
  • Elevated WBC count, 10-30 X 10^ 9
    -Absolute T-Cell lymphocytosis ++5x10^9/L
  • Over 20% reactive lymphs in peripheral blood
    -Monocytosis may occur in p.b.
    -Presence of Downey cells (Type 2 lymphs)
45
Q

What are some serological tests for infectious mononucleosis?

A

+ heterophile Antibody test
+ Specific EBV antibodies
+ PCR for EBV antigen

46
Q

If a monospot is negative and symptoms are close to infectious mononucleosis it could be…?

A

Cytomegalovirus (CMV) infection
It will show absolute reactive lymphocytosis but negative heterophile.

47
Q

Describe Acute Infectious Lymphocytosis

A

Caused by Coxsackie Enterovirus or nonviral.
-Asymptomatic or can have fever, diarrhea, upper respiratory infection, and abdominal pain.
- Absolute T-cell lymphocytosis that can be over 100k but usually between 40k to 50k.
KEY: Lymphocytes are nonreactive and uniform HOWEVER in CMV they are reactive.

Hematology 2 Summer 2023 (13 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions