Haem - MDS + Aplastic Anemia

Question 1

Define a myelodysplastic syndrome

Answer 1

Ineffective proliferation and differentiation

Question 2

Clinical features of MDS

Answer 2

Cytopenias –> fatigue, bleeding, infection

Question 3

What do defective blood cells in MDS look like?

Answer 3

RBCs = ring sideroblasts
WBCs = Pseudo-Pelger Huet anomaly
Hypogranulation
Plts = micromegakaryocytes

Question 4

% blasts in MDS?

Answer 4

<20%

Question 5

Pseudo-Pelger Huet anomaly - what is it? in whom is it seen?

Answer 5

Hypo segmented neutrophils!

MDS

Question 6

How is MDS prognosis calculated? what does it determine?

Answer 6

IPSS!!
% blasts, cytopenias, Karyotype

Determines survival + risk of AML transformation

Question 7

MDS - how do patients die?

Answer 7

1/3 = infection
1/3 bleeding
1/3 leukaemia

Question 8

Tx of MDS?

Answer 8

Definitive = allogenic SCT or chemo

Supportive - EPO, blood products, G-CSF

Question 9

What is aplastic anemia

Answer 9

BM is unable to produce adequate numbers of blood cels

- typically RBCs but can have pancytopenia

Question 10

Diagnosis of aplastic anaemia - how?

Answer 10

FBC - cytopenias

Marrow - hypocellular

Question 11

Classification of types of aplastic anaemia?

Answer 11

Primary vs Secondary

Question 12

Causes of primary aplastic anemia

Answer 12

Idiopathic (70%)

Inherited - Fanconi’s anemia, Dyskeratosis Congenita

Question 13

Causes of secondary aplastic anemia

Answer 13

Malignant infiltration
SLE
Hepatitis
Drugs - NSAIDs, chloramphenicol
Chemo
Radio

Question 14

Management of aplastic anaemia = 4 points

Answer 14

1. Supportive - transfusions, Abx, iron chelation
2. Promoting marrow recovery - oxymethalone, GFs
3. Immunosuppressants - anti-thymocyte globulin, cyclosporin
4. SCT

Question 15

Supportive tx used in aplastic anemia

Answer 15

Transfusions
Abx
Iron chelation therapy

Question 16

Drugs used in aplastic anaemia to promote marrow recovery

Answer 16

Oxymethalone

Growth factors

Question 17

2 immunosuppressants used in aplastic anemia

Answer 17

ATG = anti-thymocyte globulin

Cyclosporin

Question 18

3 complications of ATG and cyclosporin for AA treatment

Answer 18

1) AA relapse
2) MDS/leukaemia
3) solid tumours

Question 19

pathophys of idiopathic aplastic anemia

Answer 19

Immune attack of stem cells, by CD8+ cytotoxic T cells

Question 20

Normal FBC at birth, pancytopenia at 5-10 yo.

Answer 20

Fanconi’s anemia

Question 21

Physical deformities in Fanconi’s anemia

Answer 21

Thumb deformities
Microcephaly
Hypogonadism
Short stature
Cafe au lait spots

Question 22

Triad for dyskeratosis congenita

Answer 22

Nail dystrophy + oral leukoplakia + skin pigmentation

Question 23

Genetics for dyskeratosis congenita

Answer 23

Telomere shortening

X-linked or autosomal dominant