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Haematology > IOD Bone Marrow Failure > Flashcards

IOD Bone Marrow Failure Flashcards

1
Q

What are all cells made from?

A

stem cells

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2
Q

Which cells are made?

A

Erythrocyte, platelets, macrophages, neutrophils, eosinophils, basophils, B cells, T cells

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3
Q

What does BM need?

A

cytokines
EPO, TPO, GCSF and many others
Haematinics: B12, folate, iron

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4
Q

do WCC need iron?

A

no

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5
Q

What should be in peripheral blood?

A

Should be mature red cells, white cells and platelets

In abnormal cases, often reflects problems of BM

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6
Q

Reasons for cytopenias and examples?

A

Reduced cell production
B12, folate, iron deficiency
Epo deficiency in CKD

Excess loss of cells, or destruction
Single cell line affected
Pancytopenia – all 3 cell lines

Failure of appropriate utilisation
Anaemia of chronic disease

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7
Q

signs of red cell cytopenia?

A

Lethargy, poor concentration, loss of appetite, pale skin, shortness of breath, tachycardia, reduced exercise tolerance

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8
Q

signs of white cells cytopenia?

A

Fevers and infections – esp urine, chest, sinus and skin, sore mouth

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9
Q

signs of platelets cytopenia?

A

Easy bruising and bleeding, menorrhagia, epistaxis, petechiae, gum bleeding

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10
Q

Inherited single lineage

A

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

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11
Q

inherited pancytopenia?

A

Fanconi Anaemia
Dyskeratosis Congenita
Shwachman-Diamond Pearson

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12
Q

acquired single lineage?

A

Pure red cell aplasia [viral, immune, drugs]

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13
Q

acquired pancytopenia?

A

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

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14
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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15
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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16
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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17
Q

Dyskeratosis congenita?

A

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

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18
Q

Scwachman-Diamond Pearson?

A

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

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19
Q

myelodysplastic syndrome?

A

abnormal cells in the BM which do not mature properly

20
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

21
Q

Signs of aplastic anaemia?

A

Hypocellular bone marrow
No abnormal cells
No fibrosis

At least 2 of the following:
Hb <100 g/L
Plt <50x109/L
Neut <1.5x109/L

22
Q

Severity of AA?

A

RBCs less than 20 , platelets less than 20, neutrophils less than 0.5 -severe
very severe-neutrophils less than 0.2

23
Q

Appearance of AA?

A

fat, no cancer cells , no BM cells

24
Q

Info AA?

A

Rare (2-3 cases per million per year)
Wide age range (peak ~25 yrs, >65 yrs) Oriental+

Diagnosed by absence of cells
no characteristic presence or diagnostic test

Thorough history of viruses, travel, occupation, vaccinations, childhood history, skeletal abnormalities, medications – including over the counter

Marked neutropenia leads to risk of overwhelming infection; may be life threatening. Signs and symptoms related to cytopenias

25
Q

Causes of AA?

A

PREDICTABLE
Radiation, high dose chemotherapy - dose dependent
Predictable recovery course
IDIOSYNCRATIC
Drug induced – not dose related
Many small case reports – evidence unclear
Chloramphenicol
VIRAL
Hepatitis ( 5-10% of cases) ? EBV/CMV/ HIV
IDIOPATHIC
Majority of cases (60-70%)

26
Q

Pathogenesis AA?

A

Unclear, probably autoimmune component-T cell reaction

BM environment and stromal cells may have a role

Demonstrated increased progressive shortening of the terminal
restriction fragments of chromosomes – telomere shortening

27
Q

Diagnosis AA?

A

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

28
Q

how to exclude PNH?

A

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

29
Q

how to exclude malignant hypocellular disease?

A

Immunophenotyping, cytogenetics

30
Q

how to exclude late presentation of congenital forms

A

Chromosomal breakage analysis for Fanconi anaemia

X-rays, Autoimmune studies

31
Q

Complications?

A 
Risk of infection – life threatening
Blood transfusion support
Antibodies, reactions
Iron overload
Reduced quality of life

Evolution to PNH ~7%
Transformation to acute leukaemia ~10%

32
Q

Treatment AA?

A 
Supportive treatment:
Blood product support, antibiotics, general advice
Immunosuppression:
Ciclosporin
ATG (rabbit or horse)
Growth factors:
Eg GCSF in combination with the above
Haemopoietic Stem Cell Transplant:
Sibling donor first line treatment now if pt <40yrs
33
Q

Fanconi anaemia?

A 
AR disorder with progressive pancytopenia
High frequency of chromosome breakages
Can isolate breakage points
Increased predisposition to malignancies
Most (60%) patients have somatic abnormalities
Skin – cafe au lait
Skeletal – eg absent thumbs
GU – horseshoe kidneys
Cardiac
Neurological
34
Q

Porgression?

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

Acute Leukaemia: 33% cumulative incidence by 40yrs
Solid tumours: 28% cumulative incidence by 40 yrs

35
Q

Treatment FA?

A

Risk of death from disease is from BM failure

BMT if possible: Definitive treatment

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

36
Q

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

37
Q

Transient red cell aplasia?

A

Infection with Parvovirus B19
‘Slapped cheek’ syndrome

Specifically infects & destroys erythroid precursor cells
Erythropoiesis ceases for 5-10 days
Unconcerning in normal people (RBCs live for 120 days)

Can be life-threatening in those with an underlying
chronic anaemia

38
Q

Diagnosis of tca?

A

Parvo B19 serology testing

(IgM positive shows acute infection) and PCR

39
Q

treatment of TCA?

A

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

40
Q

Diagnosis of BMF?

A

Low blood counts (pancytopenia)

Refer for urgent evaluation

Repeat FBC and blood film

41
Q

other tests?

A

LFT’s, RBCs, B12, folate, ferritin,
Coag screen
Viral serology
Autoimmune profile

42
Q

history and exam?

A

sepsis, bleeding, splenomegaly, jaundice, lymphadenopathy

43
Q

Approach to neutropenic sepsis?

A

This is a medical emergency!!
(ABC approach to a sick patient)
A life threatening complication of chemotherapy
Suspect in anyone who is hypotensive and tachycardic
They may not have a fever
Neutrophil count <1.0 x109/L
Give broad spectrum IV antibiotics without delay

44
Q

Classification of thrombocytopenia?

A

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

Reduced production
Congenital
Acquired – marrow infiltration eg myelofibrosis, aplastic anaemia, drugs eg omeprazole

Increased destruction
Immune – idiopathic, viral, drugs
Microangiopathic disease – TTP, DIC, HUS
Septicaemia – usually secondary to Gram-negative organisms

45
Q

Thrombocytopenia therapy?

A

If actively bleeding:
Intravenous immunoglobulin & steroids +/- TXA
In very severe cases eg intracranial haemorrhage give platelets
May require red cell transfusion & correction of clotting abnormalities.
In chronic cases:
Immunosuppressants & steroid sparing agents
eg azathioprine, MMF, Rituximab, TPO receptor agonists: romiplostim/ eltrombopag, splenectomy
Always look for the underlying cause, and treat it!

Haematology (4 decks)

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