Aplastic Anemia Flashcards

1
Q

What causes aplastic anemia?

A

Too few hematopoieic progenitor cells

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2
Q

What does Acquired Aplastic Anemia need to be differentiated from?

A

Inherited bone marrow failure syndrome

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3
Q

What causes the destruction of progenitors in bone marrow in SAA?

A

Assault by the T-cells

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4
Q

What symptoms are associated with AA?

A

· Lethargy

· Epistaxis – Extended time

· Bacterial infections

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5
Q

What triggers are for acquired SAA?

A

· Usually not identified

· Check for CMV, EBV, HHV-6, Parvovirus, Hepatitis

· History of jaundice

· Medication history – Chloramphenicol

· Exposures (Radiation/Nuclear)

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6
Q

What is the Camitta Criteria?

A

Severe AA (SAA) “marked pancytopenia”

Peripheral Blood (2 of 3):

  • < 500 PMN
  • < 20,000 Platelets
  • < 20,000

BM: 65% hypocellularity

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7
Q

How is AA treated?

A

Matched Sibling BM

Intensive Immune Suppression with ATG/CSA/Prednisone

  • Alemtuzumab
  • Cyclophosphamide

Unrelated donor

Alternative, Alternative Donor BMT

  • Halpo/Cord BMT; Double Cord BMT

Eltrombopag – TPO agonist, but also activates all erythroblasts

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8
Q

What are telomeres?
What is the significance of their length?
What do mutations of telomerase cause?
What happens without telomerase?

A

Repeat sequences at ends of chromosomes

Molecular mechanisms have evolved to maintain telomere

Mutations in telomerase can result in marrow failure, liver fibrosis, lung firbrosis

Without telomerase, somolescence

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9
Q

What is the classic disease of cancer biology?

A

Dyskeratosis Congenita

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10
Q

What symptoms/findings are associated with Dyskeratosis Congenita?
What diagnostic parameters can be used to diagnose DC?
What is the treatment?

A

Leukoplakia, Lacy pigmentation, Abnormal finger and toe

Telomere length
Telomere length analysis is becoming a standard test
Genetic testing commercially available

Will need a transplant

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11
Q

What is Fanconi Anemia caused by?
What special test must be done for it and why?
How is it treated?

A

DNA repair defect in Fanconi Gene

40% without physical stigmata so must do diagnostic/functional DEB test to look for chromosome
If DEB test abnormal, genetic testing to classify

Will need a transplant

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12
Q

What is Schwachman-Diamond Syndrome?
What is it caused by?
What clinical findings are there?
What screening tests are there?

A

BM defect due to SBDS gene defect
Exocrine pancreatic deficiency and neutropenia
Isoamylase and trypsinogen are easily screening tests

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13
Q

What is Diamond-Blackfan Anemia?
What is severe congenital neutropenia?

A

No RBCs
Lack of PMNs congenitally

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