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IOD - Haematology > Bone Marrow Failure > Flashcards

Bone Marrow Failure Flashcards

1
Q

What causes cytopenia?

A
  1. Reduced cell production
    • B12, folate, iron deficiency
    • EPO deficiency in CKD
    1. Excess loss of cells, or destruction
      - Single cell line affected
      - Pancytopenia - all 3 cell lines
    2. Failure of appropriate utilisation
      Anaemia of chronic disease.
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2
Q

What are the symptoms and signs of bone marrow failure?

A

Red cells - causing Lethargy, poor concentration, loss of appetite, pale skin, shortness of breath, tachycardia, reduced exercise tolerance
White cells - causing Fevers and infections - especially urine, chest, sinus and skin, sore mouth.
Platelets - causing Easy bruising and bleeding, menorrhagia, epistaxis, petechiae, gum bleeding

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3
Q

What does pancytopenia mean?

A

deficiency of all three cellular components of the blood (red cells, white cells, and platelets).

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4
Q

What are the classifications of bone marrow failure?

A

Acquired/Inherited and then within this there is Single lineage and Pancytopenia.

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5
Q

What are the different types of inherited single lineage bone marrow failure disorders?

A

• Anaemia [Diamond - Blackfan]
• Neutropenia [congenital]
Thrombocytopenia [congenital amegakaryocytic & thrombocytopenia with absent radii-TAR]

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6
Q

What are the different types of inherited pancytopenia bone marrow failure disorders?

A

• Fanconi anaemia
• Dyskeratosis congenita
* Shwachman-Diamond Pearson

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7
Q

What are the different types of acquired single lineage bone marrow failure disorders?

A

Pure red cell aplasia [viral, immune, drug]

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8
Q

What are the different types of acquired pancytopenia bone marrow failure disorders?

A

• Aplastic anaemia [drugs, viral, immune]
• Bone marrow infiltration [leukaemia, MDS]
Paroxysmal nocturnal haemoglobinuria

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9
Q

Diamond-Blackfan Anaemia

A

Inherited PRCA. Skeletal abnormalities [craniofacial, thumb & upper limb, cardiac and urogential malformation, cleft palate, increased risk of leukaemia

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10
Q

Thrombocytopenia with absent radii

A

Low platelet count with no radius bone. Associated with lactose intolerance, cardiac and kidney problems

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11
Q

Fanconi anaemia

A

Pancytopenia, short stature, endocrine problems, skin pigmentation, abnormalities of arms, eyes, kidneys, ears. Increased risk of cancer, especially AML

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12
Q

Dyskeratosis congenita

A

Skin pigmentation, nail dystrophy and oral leukoplakia, with progressive BMF

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13
Q

Shwachman-Diamond Pearson

A

Predominantly a neutropenia, but all 3 cell lines affected, exocrine pancreatic dysfunction, growth retardation

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14
Q

Myelodysplastic syndrome

A

Abnormal cells in the BM which do not mature properly

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15
Q

Paroxysmal nocturnal haemoglobinuria

A

Defective blood cells, especially RBCs very susceptible to destruction by the complement system; haemolysis, haemoglobinuria. A degree of bone marrow dysfunction and risk of life threatening blood clots

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16
Q

What is aplastic anaemia?

A 
• Hypocellular bone marrow 
	• No abnormal cells 
	• No fibrosis 
	• At least 2 of the following: 
	- Hb < 100 g/L 
	- Plt <50 x 109/L
        - Neut <1.5 x 109/L
17
Q

What are the causes of aplastic anaemia?

A
  1. Predictable - Radiation, high dose chemotherapy - dose dependant. Predictable recover course
  2. Idiosyncratic - drug induced, not dose relates.
  3. Viral - Hepatits (5-10% of cases) ?EBV/CMV/HIV
  4. Idiopathic - Majority of cases (60-70%)
18
Q

What is the pathogenesis of aplastic anaemia?

A

• Unclear, probably autoimmune component
• BM environment and stromal cells may have a role
* Demonstrated increased progressive shortening of the terminal restriction fragments of chromosomes - telomere shortening

19
Q

How is aplastic anaemia diagnosed?

A

FBC, blood film, retics, BM, viral studies, LFTs

Exclude paroxysmal nocturnal haemoglobinuria (PNH):
• PIG-A gene mutation causing absence of GPI anchored proteins
• Disregulated complement leads to intravascular haemolysis (thromboses)
• NO depletion leads to smooth muscle contraction & vasoconstriction - pain

Exclude malignant hypocellular disease:
• Immunophenotyping, cytogenetics

Exclude late presentation of congenital forms:
• Chromosomal breakage analysis for fanconi anaemia
• X-rays, autoimmune studies.

20
Q

What are the complications of aplastic anaemia?

A 
Severe disease: 
	• Risk of infection - life threatening 
	• Blood transfusion support 
	• Antibodies, reactions 
	• Iron overload 
Reduced quality of life
21
Q

What are the treatment options of aplastic anaemia?

A
  1. Supportive treatment
    - Blood product support, antibiotics, general advice
  2. Immunosuppression
    - Ciclosporin
    - ATG (rabbit or horse)
  3. Growth factors
    - E.g. GCSF in combination with the above
  4. Haemopoietic stem cell transplant
    Sibling donor first line treatment now if pt <40 yrs
22
Q

What is falcon anaemia?

A

AR disorder with progressive pancytopenia
High frequency of chromosome breakages
Can isolate breakage points

23
Q

What is the clinical presentation of falconi anaemia?

A

Increased predisposition to malignancies
Most (60%) patients have somatic abnormalities
Skin - café au lait
Skeletal - e.g. absent thumbs
GU - horseshoe kidneys
Cardiac
Neurological

24
Q

What is the presentation and progression of fanconi anaemia?

A 
Very rare and varied presentations 
Difficult diagnosis 
Normal FBC at birth 
Usually presents between 5 and 10 years 
Progresses with age 
BM failure in 90% by 40yrs

Acute leukaemia: 33% cumulative incidence by 40 years
Solid tumours: 28% cumulative incidence by 40 years

25
Q

What is the treatment of falcon anaemia?

A

Risk of disease is from BM failure

BMT if possible: Definitive treatment

Prior to BMT - supportive treatment, steroids and androgens but life expectancy mid-20s

26
Q

What is Dyskeratosis congenita?

A
  • Abnormal skin pigmentation, nail dystrophy, mucosal leucoplakia
    • BM failure cause of early mortality
    • Pulmonary complications, risk of malignancy

X-linked, dyskerin gene

27
Q

How do you diagnose parvovirus-induced aplasia?

A

Diagnosis:
• Parvo B19 serology testing
• (IgM positive shows acute infection) and PCR

28
Q

How do you treat parvovirus-induced aplasia?

A

Treatment:
• Supportive (isolation - saliva, respiratory spread)
• RBC transfusion if necessary
Keep away from pregnant women: crosses placenta

29
Q

How do you diagnose bone marrow failure?

A
  • Low blood counts (pancytopenia)
  • Refer for urgent evaluation
  • Repeat FBC and blood film
30
Q

What is neutropenic sepsis?

A

A medical emergency - ABC approach needs to be taken.

It is a life threatening complication of chemotherapy. Suspect it in someone who is hypotensive and tachycardic. There may not have a fever.

Neutrophil count <1.0 x 10^9/L

Give broad spectrum Abx without delay.

31
Q

What is thrombocytopenia?

A

Characterised by purpura, easy bruising and overt bleeding - such as menorrhagia, epistaxis and gastrointestinal bleeds.

32
Q

What are the treatment options in ITP?

A

Usually self-limiting in children - can have spontaneous remissions

If actively bleeding:
• Intravenous immunoglobulin & steroids +/- TXA
• In very severe cases e.g. intracranial haemorrhage give platelets
• May require red cell transfusion & correction of clotting abnormalities

In chronic cases:
• Immunosuppressants & steroid sparing agents
• E.g. azathroprine, MMF, Rituximav, TPO receptor agonists: Romiplostm/eltrombopag, splenectomy

IOD - Haematology (8 decks)

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