Haematology - Myelodysplastic syndromes and aplastic anaemias

Question 1

What are the possible causes of death in myelodysplastic syndromes?

Answer 1

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

Question 2

In myelodysplastic syndrome patients who are not suitable for curative treatment, what drug can be used

Answer 2

• Azacytidine

Question 3

How does azacytidine work in the treatment of myelodysplastic syndromes?

Answer 3

Hypomethylating agent

Question 4

Recall 3 drugs that can cause bone marrow failure

Answer 4

1. Cytotoxic drugs (eg chemo)
2. Antibiotics (particularly chloramphenicol)
3. Thiazide diuretics

Question 5

What is the age distribution of aplastic anaemia?

Answer 5

Bimodal
Peak 1: 15-24 years
Peak 2: >60 years

Question 6

What are the primary causes of aplastic anaemia

Answer 6

Idiopathic in 75%

Inherited causes: 10%

• Fanconi’s anaemia
• Dyskeratosis anaemia
• Schwachman-Diamond syndrome
• Diamond-Blackfan syndrome

Question 7

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

Answer 7

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%

Question 8

How should idiopathic aplastic anaemia be treated?

Answer 8

For all patients: androgens (oxymethalone)

For older patients: immunosuppression
antithymocyte globulin (ATG) and cyclosporine A (CsA

For younger patients: stem cell transplant

Question 9

4 features of Fanconi’s anaemia. Inheritance?

Answer 9

skeletal deformity - absent radius & thumbs
short stature
micrropthalmia
skinn pigmentation

recessive inheritance

Question 10

What is the triad of clinical features of dyskeratosis congenita? Inheritance

Answer 10

1. Skin pigmentation
2. Nail dystrophy
3. Oral leukoplakia
   “SNOB” = the above triad + BM failure

X linked

Question 11

What is the genetic basis of dyskeratosis congenita? What 2 genes

Answer 11

Telomere shortening
most common = DKC1 gene - XR
TERC gene - AD

Question 12

What is the pseudo-pelger-huet anomaly?

Answer 12

Hyposegmented neutrophils seen in myelodysplastic syndromes

Question 13

Recall 3 options for treatment in essential thrombocythaemia

Answer 13

1. Aspirin (to reduce thrombus formation)
2. Anagrelide (reduced formation of platelets from megakaryocytes)
3. Hydroxycarbamide

Question 14

outline the blood results of the 4 inherited aplastic anaemias

Answer 14

Fanconi’s anaemia = pancytopenia
Dyskeratosis anaemia = pancytopenia
Schwachman-Diamond syndrome = neutropaenia
Diamons-Blackfan - pure red cell aplasia

Question 15

What are the secondary causes of aplastic anaemia

Answer 15

Acquired causes: 10%

• Herpes viruses
• SLE

Question 16

most common inherited aplastic anaemia

Answer 16

fanconi’s