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MLS Hematology > Unit 17 - Bone marrow failure > Flashcards

Unit 17 - Bone marrow failure Flashcards

1
Q

What is aplastic anemia?

A

A bone marrow failure syndrome caused by damaged or destroyed stem cells

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2
Q

Does BM failure cause pancytopenia?

A

Yes

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3
Q

Are most cases of aplastic anemia acquired or inherited?

A

80% to 85% acquired

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4
Q

What are the three examples of inherited aplastic anemia?

A

Fanconi anemia, Dyskeratosis congenita, and Shwachman-Bodian-Diamond syndrome

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5
Q

What is the acquired pure red cell aplasia disease called?

A

Diamond Blackfan anemia

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6
Q

What is the term to describe the bone marrow in patients with aplastic anemia?

A

Hypocellular

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7
Q

Are most acquired aplastic anemias idiopathic or secondary?

A

70% idiopathic

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8
Q

What are the common age ranges for patients with acquired aplastic anemia?

A

Ages 15-25 and older than 60

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9
Q

How do we classify aplastic anemia when the BM does not recover after withdrawal of the toxic agent?

A

Idiosyncratic - dose independent

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10
Q

What viruses can cause secondary acquired aplastic anemia?

A

EBV, Hepatitis and HIV

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11
Q

What is PNH?

A

Paroxysmal nocturnal hemoglobinuria

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12
Q

What happens to the growth factors, EPO, TPO, and CSF during aplastic anemia?

A

They are increased

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13
Q

What is a possible treatment for people with aplastic anemia? Who is excluded from this treatment?

A

Immunosuppressive medication, this does not work for patients who have issues with shortening of telomeres

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14
Q

What fraction of patients with aplastic anemia have shortened telomeres?

A

1/3

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15
Q

What do telomeres do?

A

Protect the ends of the chromosomes

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16
Q

What happens to retics in aplastic anemia?

A

They are decreased - the bone marrow is failing to produce cells, even immature cells

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17
Q

What happens to the MCV in a patient with aplastic anemia?

A

The MCV is normal or increased

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18
Q

Is there hepatosplenomegaly as a symptom of aplastic anemia?

A

Nope

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19
Q

Is there poikilocytosis as a result of aplastic anemia

A

Nope again

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20
Q

What does the decrease in RBCs in aplastic anemia usually cause?

A

Pallor, fatigue and shortness of breath

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21
Q

What does the decrease in WBCs in aplastic anemia usually cause for the patient?

A

Reoccurring infections

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22
Q

What does the low platelet count usually cause as a result of aplastic anemia?

A

Bleeding and bruising

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23
Q

What is the most common inherited aplastic anemia?

A

Fanconi anemia

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24
Q

What chromosomal defect is indicative of Fanconi anemia?

A

Fragile chromosomes that break easily

25
Q

What happens to the telomeres of a patients with Fanconi anemia?

A

Accelerated shortening

26
Q

The lab findings of Fanconi anemia are similar to that of aplastic anemia. T or F?

A

True

27
Q

What are some of the common physical abnormalities of Fanconi anemia?

A

2/3 have skeletal abnormalities, hyperpigmentation and/or cafe-au lait spots, and short stature

28
Q

When are patients most symptomatic with Fanconi anemia?

A

Ages 5 to 10

29
Q

Patients with Fanconi anemia have a high risk of developing solid tumors. T or F?

A

True

30
Q

Patients with Fanconi anemia have high hgb F and alpha-fetoprotein. T or F?

A

True

31
Q

Getting a BMT lowers the risk of cancer for patients with Fanconi. T or F?

A

False, the secondary risks are still high

32
Q

In a patient with Fanconi anemia the platelets will be the last to decrease. T or F?

A

False, they are the first to decrease

33
Q

What is the general prognosis for Fanconi anemia?

A

Greater than 90% of patients have BM failure by age 40, 1/4 of patients have solid tumors by 26, death by the age of 20 is common

34
Q

Is Fanconi amemia autosomal recessive or dominant?

A

Recessive

35
Q

Is dyskaratosis congenita caused by a dominant or recessive mutation?

A

Both

36
Q

What chromosomal abnormality is indicative of dyskaratosis congenita?

A

A decrease in telomerase complex and telomere maintenance resulting in extremely shortened telomeres

37
Q

What are the common clinical findings of dyskaratosis congenita?

A

Abnormal skin pigmentation, dystrophic nails, oral leukoplasia, multisystem abnormalities and a 40% risk of developing cancer by 50

38
Q

What is one of the most diagnostic tests for dyskaratosis congenita?

A

FISH showing shortened telomeres in multiple WBC subsets (including T and B cells)

39
Q

What are the common lab findings for dyskaratosis congenita?

A

Pancytopenia, macrocytes and possibly increased Hgb F

40
Q

What is the general prognosis for dyskaratosis congenita?

A

60-70% death due to BM failure, 10-15% pulmonary disease, and median survival of 42 years

41
Q

BMT is recommended for patients with dyskaratosis congenita. T or F?

A

False, it is not optimal due to complications

42
Q

Shwachman-Bodian-Diamond Syndrome is due to an autosomal recessive mutation. T or F?

A

True

43
Q

What is the genetic cause of Shwachman-Bodian-Diamond Syndrome?

A

Gene involved in ribosome metabolisms and mitotic spindle stability is mutated

44
Q

What happens to pancreatic enzyme secretions in Shwachman-Bodian-Diamond Syndrome?

A

They are decreased leading to pancreatic insufficiency (show symptoms early on in infancy)

45
Q

What are three clinical findings of Shwachman-Bodian-Diamond Syndrome?

A

Neutropenia, delayed bone maturation, and short stature in 50% of patients

46
Q

What happens to the RBCs and Plts in 50% if patients with Shwachman-Bodian-Diamond Syndrome?

A

They are decreased

47
Q

What does pancreatic insufficiency cause in the patient’s stool with Shwachman-Bodian-Diamond Syndrome?

A

An increase excretion of fat in the feces (can do a 72 hour fecal fat test)

48
Q

Shwachman-Bodian-Diamond Syndrome can cause an increased risk of…

A

AML and MDS

49
Q

How can Shwachman-Bodian-Diamond Syndrome be treated?

A

BMT, transfusions, granulocyte transfusion (last resort, rarely used), and pancreatic enzyme replacement

50
Q

What are the lab findings of pure red cell aplasia?

A

Severely decreased RBC precursors, low retic count, severe anemia, normal WBC and Plt counts

51
Q

What is the name of the inherited form of pure red cell aplasia?

A

Diamond-Blackfan Anemia

52
Q

What is TEC?

A

Transient erythroblastopenia of early childhood

53
Q

What gene is affected in DIamond-Blackfan anemia?

A

Gene coding for ribosomal proteins

54
Q

What are the physical abnormalities in patients with DIamond-Blackfan anemia?

A

Short stature, craniofacial dysmorphism, neck and thumb malformations

55
Q

What are the lab findings for DIamond-Blackfan anemia?

A

Severely low Hgb levels and macrocytes

56
Q

What are the symptoms of secondary hemosiderosis and what disorder is this associated with?

A

Iron overload, jaundice, and splenomegaly; Congenital dyserythropoietic anemia

57
Q

What is a common lab finding in all of these types of anemias?

A

Retics are low because the bone marrow is not responding

58
Q

In what disorder is nuclear bridging between cells seen?

A

Congenital dyserythropoietic anemia

MLS Hematology (2 decks)

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