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TAS Haematology > Bone Marrow Failure ✅ > Flashcards

Bone Marrow Failure ✅ Flashcards

1
Q

What happens in bone marrow failure?

A

There is reduced blood cell production due to defects in the number and function of bone marrow HSCs

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2
Q

What lines of blood cells are affected by bone marrow failure?

A

Usually affects all the main lines (red cells, white cells, and platelets)

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3
Q

What results from bone marrow failure?

A

Pancytopenia

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4
Q

Can bone marrow failure affect a single lineage?

A

Can in some rare conditions

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5
Q

Give 3 examples of conditions causing bone marrow failure affecting a single lineage?

A
  • Red cell aplasia
  • Severe congenital neutropenia
  • Thrombocytopenia
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6
Q

What are the clinical symptoms of bone marrow failure related to?

A

The reduction in mature blood cells of each lineage

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7
Q

What are the symptoms of bone marrow failure? -

A
  • Fatigue
  • Increased infections
  • Bruising and/or bleeding
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8
Q

What are the differential diagnoses for pancytopenia?

A
  • Bone marrow failure syndromes
  • Acquired aplastic anaemia
  • Acute leukaemia
  • Bone marrow infiltration by lymphoma or solid tumours
  • Gaucher’s disease
  • Osteopetrosis
  • Infections, e.g. HIV
  • Drugs, including chemotherapy agents
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9
Q

What might suggest a genetic bone marrow failure syndrome?

A

Blood count abnormalities in combination with physical abnormalities

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10
Q

Give 2 inherited bone marrow failure syndromes that cause pancytopenia?

A
  • Fanconi anaemia

- Shwachman-Diamond syndrome

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11
Q

What physical abnormalities are seen in Fanconi anaemia?

A
  • Short stature
  • Microcephaly
  • Skin hyperpigmentation
  • Upper limb abnormalities
  • Renal anomalies
  • Genital anomalies
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12
Q

What genes are affected in Fanconi anaemia?

A
  • FANC

- BRCA2

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13
Q

What are the initial investigations done in suspected Fanconi anaemia?

A

Bone marrow examination

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14
Q

What is the purpose of bone marrow examination in suspected Fanconi anaemia?

A
  • Confirm a hypocellular bone marrow

- Rule out other conditions, including leukaemia

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15
Q

What is the gold standard diagnostic test for Fanconi anaemia?

A

Chromosomal breakage test

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16
Q

How is the chromosomal breakage test to confirm Fanconi anaemia?

A

Lymphocytes are cultured to the metaphase state of the cell cycle, in the presence of diepoxybutane (DEB)

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17
Q

What happens in the chromosomal breakage test in Fanconi anaemia?

A

Spontaneous chromosomal breakages, or chromosomal breakages induced by DEB or mitomycin C

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18
Q

Who else should be tested when a diagnosis of Fanconi anaemia is confirmed?

A

All siblings

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19
Q

Why should all siblings be tested when there is a confirmed diagnosis of Fanconi anaemia?

A

Some patients with Fanconi anaemia have very few physical anomalies

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20
Q

What is the pathophysiology of Fanconi anaemia?

A

It is a disorder of a key DNA repair pathway, which is vital to maintain chromosomal integrity

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21
Q

How many gene mutations have been identified to be involved in Fanconi anaemia?

A

16

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22
Q

What kind of genes are mutated in Fanconi anaemia?

A

DNA repair genes

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23
Q

What is the role of the 16 DNA repair genes that can be mutated in Fanconi anaemia?

A

They participate in a complex network important in DNA repair that orchestrates incisions at sites of cross-linked DNA

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24
Q

What is the role of the 16 DNA repair genes that can be mutated in Fanconi anaemia?

A

They participate in a complex network important in DNA repair that orchestrates incisions at sites of cross-linked DNA

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25
Q

What is the result of the variety of genetic defects leading to Fanconi anaemia?

A

Responsible for the pleiotropic features of the Falconi anaemia

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26
Q

What other conditions can Fanconi anaemia increase the risk of?

A

Leukaemia and other cancers

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27
Q

Who should children with inherited bone marrow failure be managed by?

A

A specialist MDT

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28
Q

What may be involved in the management of children with bone marrow failure syndromes?

A
  • Observation
  • Blood transfusions
  • Androgens
  • HSCT
29
Q

When may it be appropriate to have a period of observation in children with bone marrow failure syndromes?

A

If the patient is relatively well

30
Q

Give an example of an androgen used in the treatment of bone marrow failure syndromes?

A

Oxymethalone

31
Q

What % of patients with bone marrow failure syndromes do androgens produce a therapeutic response in?

A

50%

32
Q

What is the limitation of the use of androgens in bone marrow failure syndromes?

A
  • Associated with significant side effects

- Usually only provide transient benefit

33
Q

What is the limitation of the use of androgens in bone marrow failure syndromes?

A
  • Associated with significant side effects

- Usually only provide transient benefit GiveG

34
Q

What is the limitation of the use of androgens in bone marrow failure syndromes?

A
  • Associated with significant side effects

- Usually only provide transient benefit

35
Q

Give a significant side effect that can be seen with androgen therapy?

A

Hepatocellular carcinoma

36
Q

What is the role of HSCT in Fanconi anaemia?

A

It is the only curative treatment for the haematological abnormalities seen

37
Q

What is the limitation of HSCT in Fanconi anaemia?

A

It will not reduce the risk of solid tumour malignancies, and children require lifelong monitoring

38
Q

What physical abnormalities are seen in Shwachmann-Diamond syndrome?

A
  • Pancreatic insufficiency
  • Skeletal abnormalities
  • Hepatomegaly
39
Q

What gene is affected in Shwachman-Diamind syndrome?

A

SBDS

40
Q

What is the role of the SBDS gene?

A

It is important for normal ribosome biogenesis

41
Q

What type of haematological abnormality is particularly seen in Shwachman-Diamond syndrome?

A

Neutropenia

42
Q

Give an example of an inherited bone marrow failure syndrome that is associated with anaemia?

A

Diamond-Blackfan anaemia

43
Q

What are physical abnormalities seen in Diamond-Blackfan anaemia?

A
  • Short stature
  • Thumb abnormalities
  • Craniofacial abnormalities
44
Q

What gene is affected In Diamond-Blackfan anaemia?

A

RPS19 and other ribosomal genes

45
Q

Give an example of an inherited bone marrow failure syndrome causing thrombocytopenia?

A

Thrombocytopenia absent radii (TAR)

46
Q

What are the physical abnormalities associated with TAR?

A
  • Absent radii
  • Facial dysmorphism
  • Lower limb anomalies
  • Cow’s milk intolerance
47
Q

What gene is affected in TAR?

A

RBM8A

48
Q

What is the inheritance pattern of TAR?

A

Autosomal recessive

49
Q

What is TAR characterised by?

A
  • Radial aplasia

- Absent or decreased megakaryocytic in the bone marrow

50
Q

How does TAR typically present?

A

Thrombocytopenia

51
Q

What can TAR cause in the neonatal period?

A

Significant haemorrhage complications

52
Q

What is the genetic basis of TAR?

A

Inheritance of a partial deletion of chromosome 1 in combination with an abnormal copy of the RBM8A gene

53
Q

What is the aetiology of most cases of acquired aplastic anaemia?

A

Idiopathic

54
Q

What are the specific causes of acquired aplastic anaemia?

A
  • Drugs
  • Chemicals
  • Ionising radiation
  • Viruses
55
Q

Give 2 drugs that can cause acquired aplastic anaemia?

A
  • Chloramphenicol

- Sulphonamides

56
Q

Give 2 chemicals that can cause acquired aplastic anaemia?

A
  • Benzene

- Pesticides

57
Q

Give 2 viruses that can cause acquired aplastic anaemia?

A
  • Epstein-Barr virus

- Viral hepatitis

58
Q

What does the diagnosis of acquired aplastic anaemia require?

A

Bone marrow biopsy

59
Q

What is a bone marrow biopsy required for in the diagnosis of acquired aplastic anaemia?

A
  • Confirm marrow hypoplasia

- Rule out other potential causes, particularly leukaemia

60
Q

What should the history and examination focus on in suspected acquired aplastic anaemia?

A

Exclusion of any inherited bone marrow failure disorders

61
Q

What is the mainstay of treatment in acquired aplastic anaemia?

A

HSCT

62
Q

How effective is HSCT in acquired aplastic anaemia?

A

Has an excellent outcome

63
Q

How are children with acquired aplastic anaemia without a suitable bone marrow donor treated?

A

Immunosuppresive therapy

64
Q

Why are children with acquired aplastic anaemia without a suitable bone marrow donor treated with immunosuppressive therapy?

A

There is evidence that aplasia occurs due to immune dysregulation

65
Q

Give an immunosuppressive therapy that may be used in the treatment of acquired aplastic anaemia

A

Anti-thymocyte globulin (ATG)

66
Q

What is ATG?

A

An infusion containing antibodies targeted against human T lymphocytes

67
Q

How effective is ATG in the treatment of acquired aplastic anaemia?

A

It has been shown to give a good response

68
Q

What can improve the response to ATG in acquired aplastic anaemia?

A

Combining it with long-term ciclosporin

TAS Haematology (7 decks)

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