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Haematology > Haematology 13 - Myelodysplastic syndromes and aplastic anaemias > Flashcards

Haematology 13 - Myelodysplastic syndromes and aplastic anaemias Flashcards

1
Q

Definition of MDS

How is MDS different to MPN and leukamiea?

What is the difference between MDS and aplastic anaemia?

A

Basically: qualitative and quantitative defect of cells of different part sof the myeloid lineage

“Heterogeneous group of progressive disorders featuring ineffective proliferation and differentiation of abnormally maturing myeloid stem cells.”

MDS vs MPN and leukaemia

MDS: defective prolfieration and defective differentiation

MPN: increased proliferation, intact differentiation

Leukamiea: increased proliferation, some defective differentiation

**can be a degree of overlap

MDS vs aplastic anaemia

MDS- bone marrow is producing cells, but the cells are abnormal

Aplastic anamiea - the bone marrow is so damaged that it’s not producing cells (hypocellular bone marrow)

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2
Q

Which age group usually gets MDS?

A

Elderly

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3
Q

Clinical features of MDS

A

1) anaemia- tired, pallor, SoB
2) leukopenia- infection
3) thrombocytopenia- bleeding, bruising

This develops over weeks and months

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4
Q

What are the abnormalities seen on bone marrow and blood film in MDS?

A

1) abnormal blast cells
2) abnormal myeloid lineage- hypogranulation, pseudo-pelger-huet anomaly (hyposegmented neutrophil)
3) abnormal RBCs- ring sideroblasts
4) abnormal platelets- micromegakaryocytes, hypolobated nuclei

**you would see a HYPERCELLULAR BONE MARROW**- contrast with aplastic anaemia where you see a hypocellular bone marrow

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5
Q

What abornalities of blast cells do you see in MDS?

A

Increased proportion of blast cells (normal <5%)

**however they must be <20% otherwise it is classed as an acute leukaemia

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6
Q

What abnormalities of myeloid lineage do you see in MDS?

A

1) myeloblasts - aeur rods (aeur rods= either AML or late stage MDS that has progressed to AML i.e. bad news)
2) abnromal neutrophils
- Pelger Huet anomaly (bilobed nucleus, with lobes separated by thin bridge)
- dysgranulopoiesis - can’t release granules
- myelokathexis (fragmentation of neutrophil nucleus)

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7
Q

What abnormalities of RBC do you see in MDS?

A
  1. dyserythropoiesis of RBC - erythroblasts connected by cytoplasmic bridge not broken off, blebbing of RBC
  2. ringed sideroblasts- deposits of iron around the RBC nucleus
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8
Q

Abnornalities of platelets in MDS

A

Usually megakaryocytes (biggest cells in the bone marrow) make the smallest cells (platelets). In MDS you get small megakaryocytes (micromegakaryocytes)

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9
Q

What predicts transofmration of MDS into AML?

A

>5% blasts in bone marrow - increased risk

more blasts- more risk of AML

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10
Q

What are the possible causes of death in myelodysplastic syndromes?

A

1/3 die of bleeding
1/3 die of infection
1/3 die of AML

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11
Q

What are the 2 possible curative treatments for myelodysplastic syndromes, and what is the biggest issue with them?

A
  1. Allogenic stem cell transplant
  2. Intensive chemotherapy
    Sadly, most patients can’t benefit from either for one reason or another
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12
Q

In myelodysplastic syndrome patients who are not suitable for curative treatment, how should disease be managed?

A

Supportive treatments include:
- Blood products
- Antibiotics
- GF - EPO, GCSF (neutrophil count)
Can add biological modifiers:
- Immunosuppressive therapy
- Azacytidine

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13
Q

How does azacytidine work in the treatment of myelodysplastic syndromes?

A

Hypomethylating agent
Causes blood count to rise

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14
Q

What chemotherapy can be used for MDS?

A
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15
Q

Primary causes of bone marrow failure: pancytopaenia and single cytopaenia

A

Schwanmann Diamond- primarily neutrophilia but can affect other lineages also.

(diff to diamond-blackfann which is single red-cell aplasia)

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16
Q

Secondary causes of bone marrow failure

A
17
Q

Causes of aplastic anaemia

A

1) idiopathic- most common. tends to be autoimmune.
2) inherited
a) fanconi’s anaemia
b) dyskeratosis congenita
c) schwachman diamond syndrome
3) secondary
a) radiation
b) drugs
c) viruses
d) immune

18
Q

Recall 3 drugs that can cause bone marrow failure

A
  1. Cytotoxic drugs (eg chemo) (predictable- dose dependent)
  2. Antibiotics (particularly chloramphenicol) (idiosyncratic- not dose dependent. rare)
  3. Thiazide diuretics
19
Q

Epidemiology of aplastic anaemia

A
  • 2-5 million cases per year worldwide (RARE)
  • ALL age groups can be affected
  • Bimodal incidence:
    • 15-24 years
    • 60+ years
20
Q

Clinical features of aplastic anaemia

A
  • Anaemia- fatigue, pallor, breathlessness:
    • Cannot make haemoglobin so get anaemic
  • Leukopenia- infections:
    • Cannot make WBCs to fight off infections
  • Thrombocytopaenia- easy bruising/ bleeding/ petechial rash:
    • Cannot make enough platelets
21
Q

Diagnosis of aplastic anaemia

A
  1. Bloods

cytopaenia

low RBC

low Hb

low reticulocytes

high MCV - as HbF increases to compensate for low Hb

  1. definitive diagnosis- bone marrow biopsy
    - hypocellular bone marrow filled with fat
    - dry tap- low haematopoietic stem cells
22
Q

Differential diagnoses of aplastic anaemia

A
  • Hypoplastic MDS/ AML
  • Hypocellular ALL
  • Hairy Cell Leukaemia
  • Idiopathic Thrombocytopaenic Purpura (ITP)
  • Mycobacterial (usually atypical) infection
  • Anorexia Nervosa:
    • necrosis of bone marrow into fat if they really starve themselves)
23
Q

What are the 2 classifications of aplastic anaemia, and how is classification decided?

A

Severe or non-severe
Decided by *Camitta criteria*:
- Aplastic anaemia is severe if 2 or more of the following peripheral blood features are present:
- Reticulocytes <1%
- Neutrophils <0.5
- Platelets <20
PLUS: Bone marrow cellularity must be <25%

24
Q

Treatment of aplastic anaemia: detailed algorithm

A
25
Q

How should idiopathic aplastic anaemia be treated? summary

A

For all patients: androgens (oxymethalone)
For older patients: immunosuppression (presumably because there’s immune mediated destruction)
- anti-lymphocyte globulin
- ciclosporin
For younger patients: stem cell transplant

26
Q

Success rates of bone marrow transplant for aplastic anaemia

A
27
Q

Recall some symtoms of Fanconi’s anaemia

A

Short stature, hypogonadism, thumb abnormality, cafe au lait spots

28
Q

What is the genetic basis of dyskeratosis congenita and aplastic anaemia?

A

Telomere shortening

29
Q

What is the triad of clinical features of dyskeratosis congenita?

A
  1. Skin pigmentation
  2. Nail dystrophy
  3. Oral leukoplakia
    “SNOB” = the above triad + BM failure - useful mnemonic
30
Q

What is the pseudo-pelger-huet anomaly?

A

Hyposegmented neutrophils seen in myelodysplastic syndromes

31
Q

What is diamond blackfann anaemia?

A
  • pure red blood cell aplasia
    • other cells not affected
  • craniofacial abnormalities - cleft palate, cardiac defects
  • blood test
    • anaemia
    • low reticulocyte count
    • elevated foetal haemoglobin
32
Q

CHaracteristics of fanconi anaemia

A

main thing- pancytopaenia

33
Q

What is schwachman-diamond syndrome?

A

Autosomal recessive. Primarily NEUTROPAENIA +/- others
• Skeletal abnormalities, endocrine and pancreatic dysfunction, hepatic impairment,
short stature • AML risk

**think of girl you saw at clinic** - also skin problems (hypersensitivity, eczema etc. ) and learning disability

34
Q

Dyskeratosis congenita

A

X-linked. Chromosome instability (telomere shortening)
• Skin pigmentation, nail dystrophy, oral leukoplakia (triad) + BM failure

35
Q

Diamond blackfann syndrome

A

Pure red-cell aplasia; normal WCC and platelets
• Presents at 1yr/neonatal
• Dysmorphology (d for diamond, d for dysmorphic)

**diamond- precious; RBC- main cell**

Haematology (16 decks)

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