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Pathology Summaries > HAEM: Bone marrow failure > Flashcards

HAEM: Bone marrow failure Flashcards

1
Q

What are the primary causes of BM failure?

A

Congenital: Fanconi’s anaemia (multipotent stem cell)
Diamond-Blackfan anaemia (red cell progenitors
Kostmann’s syndrome (neutrophil progenitors)
Acquired: Idiopathic aplastic anaemia (multipotent stem cell)

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2
Q

Which Abx can cause BM failure?

A

Sulphonamide, chloramphenicol

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3
Q

Which diuretics can cause BM failure?

A

Thiazide

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4
Q

What age is affected by aplastic anaemia?

A

Bimodal - all ages but peaks in 15-24yrs and >60yrs

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5
Q

Name 3 congenital causes of aplastic anaemia.

A 
Pancytopenia:
Fanconi's 
Dyskeratosis congenita 
Shwachman-Diamond
Down's

Single cytopenia:
Diamond-Blackfan
Kostmann’s
Reticular dysgenesis

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6
Q

What are the 2 main pathophysiologies of AA?

A

Stem cell problem

Immune attack

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7
Q

What is the marrow like in AA?

A

Hypocellular (<25% cellularity)

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8
Q

What criteria to diagnose severity of AA?

A

Camitta criteria

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9
Q

What is the FBC in aplastic anaemia?

A

Everything low

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10
Q

Which other non-haem conditions cause a hypocellular marrow?

A

Anorexia nervosa
Mycobacterial infection
ITP

ALL
AML
MDS

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11
Q

What is alemtuzumab MOA in MDS?

A

Anti-CD52

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12
Q

What is the risk of PNH in MDS on immunosuppressive treatment?

A

20% over 10yrs but may be transient

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13
Q

What is the choice of tx in a patient <35ys vs a patient >50yrs with AA?

A

<35yr –> HLA identical sibling BMT

>50yrs –> immunosuppressive therapy (ATG + cyclosporin)

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14
Q

What is the most common form of inherited AA?

A

Fanconi’s

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15
Q

What is the inheritance of Fanconi’s?

A

AR or X linked

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16
Q

What is the pathophysiology of Fanconi’s?

A

Abnormal REPAIR of DNA

Chromosomal FRAGILITY

17
Q

How common are congenital abnormalities in FA?

A

70% - absent thumbs, cafe au lait, short stature (AA is the most common complication of Fanconi’s anaemia)

18
Q

What is the triad of dyskeratosis congenita?

A

Skin pigmentation
Nail dystrophy
Leukoplakia

19
Q

What is the most common complication of DC?

A

BM failure

20
Q

Name a therapeutic TPO receptor agonist used in AA.

A

Eltrombopag

21
Q

What is the pathophysiology of DC?

A

TELOMERE shortening

22
Q

How is DC inherited?

A

MOST X linked recessive

Others: AD, AR

23
Q

What gene is mutated in X linked DC?

A

DKC1

AD: TERC gene

24
Q

What is the function of telomeres?

A

Prevent fusions/rearrangements in replication

Protect gene ends from degradation

25
Q

What is a similarity between idiopathic AA and DC?

A

Everything similar (incl. short telomeres in both) but idiopathic AA has no physical symptoms

Pathology Summaries (23 decks)

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