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Year 5 path 3 > Myelodysplastic syndromes and aplastic anaemia > Flashcards

Myelodysplastic syndromes and aplastic anaemia Flashcards

1
Q

Define myelodysplastic syndrome

A

Myelodysplastic syndrome is an acquired disorder whereby a you get clones of dysfunctional myeloid cells.

You get cytopenia, dysfunctional rbc, myelocytes and thrombocytes, and an increased risk of developing AML.

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2
Q

Who does myelodysplasia affect?

A

The elderly

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3
Q

List some MDS bone marrow morphological features by cell type

A

Neutrophils:

  • bilobed: pseudo Pelger-Heut anomaly
  • thinning and longing out of nuclear lobe connections: myelokathexis
  • hypogranulation: dysgranulopoeisis

Red blood cells:

  • Dyserythropoeisis of red blood cells
  • Auer rods (this suggests AML)
  • Cytoplasm blebs
  • Ringed sideroblasts

Thrombocytes:

-micro thrombocytes

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4
Q

What do you called bilobed neutrophils?

A

Pseudo-Pelger-Heut anomaly

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5
Q

Differential for bilobed neutrophils

A
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6
Q

What is myelokathexis?

A

Where the lobes of neutrophils are connected by thin strands

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7
Q

What features does dyserythropoiesis entail in MDS?

A

Erythrocyte precursors conjoined by cytoplastmic bridges

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8
Q

What do ringed sideroblasts mean?

A

Siderotic granules around the nucleus as a ring

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9
Q

What do myeloblasts with auer rods suggest?

A

AML (very bad)

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10
Q

What is the classification system used for MDS?

A

WHO classification - based on number of dysplastic lineages

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11
Q

What scoring system is used to predict survival and the likelihood of developing acute myeloid leukemia? What is this system based on?

A

IPSS-R:

BM blast percentage
Karyotype
Degree of cytopenia (neutrophils + platelets)
Hb count

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12
Q

How many genetic abnormalities would confer poor prognosis for MDS?

A

More than 3 abnormalities

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13
Q

What is the evolution of MDS? How long does it take for symptoms to show?

A

Weeks/months

Blood counts deteriorate, worsening consequences of marrow failure

AML evolution

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14
Q

As a rule of thumb, what is the cause of death in these patients?

A

1/3 will die from infection
1/3 will die from bleeding
1/3 from acute leukemia

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15
Q

Curative treatment of MDS. What’s the main problem with these?

A
  1. SCT - allogeneic stem cell transplant
  2. Intensive chemotherapy

They are sometimes too intense for the elderly.

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16
Q

Supportive treatment of MDS

A

Transfusions
Antibiotics
Growth factors - erythropoeitin, G-CSF, TPO/thromopoetic receptor agonist (to enhance platelet production)

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17
Q

List some biological supportive drugs for MDS, and how they work

A

Azacytidine and decitabine - both are hypomethylating

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18
Q

If the white count is high (which is unusual), what drug is used?

A

Hydroxyurea, also called hydroxycarbamide

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19
Q

Name another type of chemo that can be used in low doses for MDS

A

Low dose chemo - cytarabine

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20
Q

Name a type of biological modifier which is used for a specific variant of MDS

A

Lenalidomide - used for the 5q del variant

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21
Q

List some primary causes of BM failure

A

Congenital - Fanconi’s anaemia
Diamond-Blackfan anaemia
Kostmann’s syndrome
Acquired idiopathic aplastic anaemia - most common cause

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22
Q

What is Fanconi’s anaemia?

A

Inherited aplastic anaemia, pancytopenia due to a DNA repair defect. Autosomal recessive.

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23
Q

What is Diamond-Blackfan syndrome?

A

RBC deficiency, presents neonatally within 1 year

24
Q

What is Kostmann’s syndrome?

A

Severe neutropenia

25
Q

Secondary causes of BM failure?

A

Haematological - cancer
Non - haematological - fibrosis, sold mets
Infection - HIV, parvovirus, hepatitis
Chemicals (benzene), drugs, radiation
Autoimmune

26
Q

Drugs and marrow failure

A

Predictable - dose dependent, common

27
Q

Phenylbut??? NSaid??

A
28
Q

List two antibiotics that cause cause BM failure

A

Chloramphenicol - but you can still get it as eye drops
Sulphonamide

29
Q

List diuretics that cause cause BM failure

A

Thiazides

30
Q

Antithyroid drugs which can cause BM failure

A

Carbimazole

31
Q

Aplastic anaemia definition epidemiology

A

BM appears EMPTY
Bimodal distribution; teenagers and 60s - Asian?

32
Q

Classification of aplastic anaemia

A

Idiopathic - vast majority
Inherited causes - dyskeratosis congenita
Fanconi anaemia
Shwachman-Diamond syndrome
Second - radiation/drugs/viruses e.g. hepatitis,HIV,SLE
Miscellaneous - paroxysmal nocturnal haemoglobuinuria
Thymoma

33
Q

What is idiopathic aplastic anaemia?

A

Failure of BM to produce red blood cells pobably

34
Q

Triad of bone marrow failure findings

A

Anaemia - tiredness, breathlessness
Leucopenia - infection
Platelets - bleeding

35
Q

How do you diagnose aplastic anaemia?

A

Bloods - cytopenia
BM biopsy - hypocellular

36
Q

How does aplastic anaemia look?

A

Looks empty in the bone marrow; fatty replacement

37
Q

Differentials for pancytopenia and hypocellular marrow

A

ITP
Anorexia nervosa
Mycopbacteiral infeciton
AML
Hypocellular acute lymphoblasctic leukemia
hairy cell leukemia

38
Q

Severe aplastic anaemia criteria

A

Camitta criteria -

Low reticulocytes <20x10^9L
Low neutrophils <0.5x10^9L
Low platelets <20x10^9L

Bone marrow <25% cellularity

39
Q

Management of bone marrow failure

A
  1. Seek and remove any causes of BM failure
  2. Supportive blood/platelet transfusions, antibiotics, iron chelation therapy
  3. Immunosuppressive therapy - e.g. antithymocyte globulin, steroids, CyA
  4. Drugs to promote marrow recovery - oxymetholone, TPO receptor agonists
  5. Stem cell transplantation
  6. Other treatments in refractory cases
40
Q

How common is

A
41
Q

Supportive therapy for aplastic anaemia

A

Blood products
Antimicrobials
Iron chelation therapy - ferritin

42
Q

What are the consequences of immunosuppressive therapy for AA?

A

Relapse of AA (35 percent)
Clonal haematological disorders - myelodsyplasia, leukemia
Risk of solid tumours

43
Q

What is the most common cause of BM failure, and the most common inherited cause of it?

A

Most common cause - idiopathic
Most common inherited cause - Fanconi’s anaemia

44
Q

What is fanconi anaemia?

A

IT IS THE MOST COMMON FORM OF INHERITED APLASTIC ANAEMIA, causing pancytopenia due to a DNA repair fault

45
Q

Genetics of Fanconi anaemia?

A

Autosomal recessive or X-linked

46
Q

Symptoms of Fanconi

A

Short stature
Cafeau lait or hypopigmented spots
Small head/eyes
Thumb abnormalities
Hydrocephaly

47
Q

Consequences of fanconi anaemia

A

Aplastic anaemia - by the age of 10
Leukemia and myeldysplasia
Liver dsiease
Cancer (epithelial)

48
Q

Dyskeratosis congenita

A

Marrow failure
Cancer predisposition
Somatic abnormalities

49
Q

Triad for DC

A

Skin pigmentation
Leukoplakia
Nail dystrophy

50
Q

consequences of DC

A
51
Q

Management of BM failure

A

Supportive ???

52
Q

Genetics of DC

A

Telomere shortening

act to prevent chromosomal fusion or rearrangements drugin chromosal replication
Protect the genes at the end of the chromosome from degradation

53
Q

DC

A

X-linked - DKC1

????????????? also automosomal? see slide

54
Q

Telomeric shortening is a feature of

A

Both dyskeratosis congenita AND aplastic anaemia

55
Q

If a patient is above 50, what do you try?

A

Year 5 path 3 (10 decks)

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