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Hematology > Hematology Week 2: Failure of Bone Marrow > Flashcards

Hematology Week 2: Failure of Bone Marrow Flashcards

1
Q

Bone Marrow failure causes

A

Can be congenital or acquired

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2
Q

Constitutional Aplastic Anemia examples

4 listed

A
  • Fanconi Anemia
  • Shwachman-Diamon Syndrome
  • Dyskeratosis congenita
  • Diamond-Blackfan Syndrome (red-cell aplasia)
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3
Q

Acquired Bone Marrow Failure examples

2 listed

A

Idiopathic aplastic anemia

Paroxysmal nocturnal hemoglobinuria (PNH)

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4
Q

BM failure vs Aplastic Anemia

A

not equal terms

aplastic anemia is a form of BM failure

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5
Q

Criteria for Aplastic anemia

A
  • Cytopenia
  • Hypocellular Marrow
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6
Q

Cellularity to age

A

age 80 = 20% cellularity

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7
Q

Causes of Acquired Aplastic Anemia

6 listed

A

Idiopathic - majority of cases

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8
Q

Idiopathic aplastic anemia Etiology

A
  • Immune-mediated process underlying idiopathic aplastic anemia pathogenesis
  • oligoclonally expanded cytotoxic T cells induce apoptosis of hematopoietic progenitors (Tregs significantly reduced, increased Thelp cells) indicative of antigen driven process
  • Suggestive HLA class-I drive autoimmunity in Aplastic Anemia
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9
Q

Idiopathic Aplastic Anemia clinical Features

4 listed

A
  • Thrombocytopenia is a prominent feature
  • Small PNH clone detected
  • High TPO level
  • Benefit from immunosuppressive therapy
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10
Q

Pancytopenia

A
  • very empty
  • not enough RBCs
  • Not enough Platelets
  • Not enough Neutrophils
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11
Q

Management of Aplastic Anemia

5 main

A
  • need to rule out folate and B12 deficiency
  • gastric bypass can resect where vitamins are absorbed
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12
Q

Treatment of Idiopathic Aplastic Anemia

A

HSCT is curative

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13
Q

Prognosis of Idiopathic Aplastic Anemia

A

50-80% 5 year survival

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14
Q

If a sibling is not available for HSCT then Idiopathic Aplastic Anemia is treated with?

A

Immunosuppressive Therapy

  • Horse ATG
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15
Q

Horse ATG

A

in conjunction with prednisone and cyclosporine

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16
Q

Idiopathic Aplastic Anemia Horse ATG or

A
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17
Q

Idiopathic Aplastic Anemia can evolve into

A

MDS/AML

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18
Q

Idiopathic Aplastic Anemia Supportive Care

A

very open to infections and fungal infections so prophylactic bacterial and fungal medications

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19
Q

Drugs of Drug-induced Aplastic Anemia

A
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20
Q

Infection-induced Aplastic Anemia

4 listed

A
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21
Q

Parvovirus B19 is commonly associated with

A
  • Megaloblastic anemia
  • 5% will have aplastic anemia
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22
Q

Case study

A

erythroblasts with nuclear inclusions of Parvovirus B19

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23
Q

Parvovirus B19 stain

A
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24
Q

Parvovirus B19 can cause?

A
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25
Q

PNH AKA

A

Paroxysmal Nocturnal Hemoglobinuria (PNH)

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26
Q

PNH Etiology

4 listed

A
  • Acquired disorder of HSC
  • a defect in the phosphatidylinositol glycan complementation class A (PIGA) gene which leads to a defect in GPI synthesis
  • GPI are membrane anchors for other proteins such as enzymes, receptors, complement regulators CD55 and CD59 and adhesion molecules
  • When CD55 and CD59 are missing, complement activation will lead to MAC formation, thus intravascular hemolysis
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27
Q

GPI AKA

A

Glycophosphatidylinositol

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28
Q

PNH Treated with?

A
  • Eculizumab
  • the MAC will be blocked however C3 will accumulate and the RBCs will be preyed on by macrophages because of complement deposition
  • before treatment Coombs test is negative but after treatment Coombs test is positive
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29
Q

PNH Progressivity

A
30
Q

PNH Clinical Presentation

4 listed

A
31
Q

Diagnosis of PNH

A
32
Q

Ham Test

A

No longer used

33
Q

PNH diagnosis test of choice

A

cells that dont have CD157 and FLAER are PNH clones because they dont not have the anchor proteins

34
Q

RBC PNH Test

A
35
Q

% of patients with PNH will progress to?

A

30% to Aplastic Anemia

36
Q

PNH Unique Relationship to Aplastic Anemia

A
37
Q

Only _________ Aplastic Anemia can develop a PNH clone

A

Acquired

38
Q

Management of PNH

2 listed

A

eculizumab (targe on complement protein C5)

39
Q

Constitutional BM failure Syndromes

A

Fanconi Anemia

Shwachman-Diamond Syndrome

Dyskeratosis Congenita

Diamond-Blackfan Syndrome (red cell aplasia)

More types

40
Q

Fanconi Anemia

5 main

A
41
Q

Fanconi Anemia common manifestation

A

Failure of BM production

42
Q

Fanconi Anemia Age of onset

A

can be young but some patients remain undiagnosed until adulthood

43
Q

Fanconi Anemia Test

A

Increased Chromosomal Breakage when induced with chemicals

44
Q

Fanconi Anemia Genetics

A
  • at least 16 FA gene mutations have been discovered
  • loss of function in DNA repair
45
Q

FA HSC

A
  • Impaired HSC pool
  • progressive Attrition of HSCs
46
Q

FA Diagnostic Test

A

Chromosomal breakage study

47
Q

FA physical Manifestations

A
  • short stature
  • abnormal internal organ formation (kidney, urinary, heart, eyes, ears, etc..)
  • malformed thumbs and or forearms
48
Q

Dyskeratosis Congenita Etiology

A

shortened telomeres

49
Q

Dyskeratosis Congenita Hereditary patterns

A

very diverse can be

  • X-linked
  • autosomal recessive
  • autosomal dominant
50
Q

Dyskeratosis Congenita Clinical Features

A
51
Q

Dyskeratosis Congenita % developing malignancies

A
52
Q

Dyskeratosis Congenita BM failure

A

occurs by 20 years in 80% of patients

53
Q

Dyskeratosis Congenita mucocutaneous abnormalities

A

often present in early childhood before 10 years

54
Q

Diagnosis of Dyskeratosis Congenita

A
  • very difficult to diagnose
  • no single test can definitively diagnose

Mucocutaneous changes and family history become very important

55
Q

Shwachman-Diamond Syndrome

A
56
Q

Shwachman-Diamond Syndrome Age of onset

A

Infancy with exocrine pancreatic insufficiency and progressive bone marrow failure

57
Q

Shwachman-Diamond Syndrome Clinical presentations

A
  • Exocrine pancreatic insufficiency
  • progressive bone marrow failure
  • Neutropenia is the most common presentation
  • BM failure progresses to complete in 25% of patients and to MDS/AML in 5%-33% of patients
58
Q

Shwachman-Diamond Syndrome Genetics

A

Shwachman-Bodian-Diamond Syndrome gene (SBDS) on chromosome 7

59
Q

Shwachman-Diamond Syndrome Pathogenesis

A
  • unknown
  • mutations may affect RNA processing or ribosomes
60
Q

Diamond-Blackfan Anemia Genetics

A
  • Mutations of Ribosomal genes (RPS19, RPL5, RPL11, RPL35A, and others)
61
Q

Diamond-Blackfan Anemia Clinical Presentations

A
  • Thumb malformation
  • craniofacial abnormalities
  • Macrocytic anemia
  • Paucity of erythroid precursors in the BM (pure red cell aplasia)
62
Q

Diamond-Blackfan Anemia Increased risks of

A

Developing acute leukemia

63
Q

Diamond-Blackfan Anemia pictures

A

erythroid lineage is missing

64
Q

Next Generation Sequencing

A
65
Q

Fanconi Anemia Clinical Management

5 listed

A
  • HSCT - curative option
  • Colony stimulating factors for support
  • androgens - mechanism is unclear
  • monitor for solid organ malignancies
  • Gene therapy TNF-Alpha inhibitors are currently being investigated
66
Q

Dyskeratosis Congenita Clinical Management

A
  • HSCT Curative option
  • Androgen therapy - modulates TERT gene expression and slows telomerase attrition
67
Q

Shwachman-Diamond Syndrome Clinical Management

A
  • Hematologic abnormalities no treated unless severe
  • Transfusion as necessary
  • G-CSF/prophylactic antibiotics for severe neutropenia
  • HSCT for severe pancytopenia or progression to MDS/AML
  • Monitor CBC q3-6 months and BM 1-3 years
  • pancreatic enzyme replacement
68
Q

Diamond-Blackfan Anemia Clinical Management

A
  • Corticosteroids
  • Transfusion/iron chelation
  • HSCT
  • Remission is possible (reason is unknown)
69
Q

BM Failure Summary

A
70
Q

BM Failure Summary

A
71
Q

BM Failure Summary

A

Hematology (26 decks)

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