Myelodysplastic Syndromes and Aplastic Anaemia

Question 1

What are myelodysplastic syndromes?

Answer 1

A group of heterogenous disorders characterised by ineffective proliferation and differentiation of abnormally maturing myeloid cells. Classically, there is a:

• Peripheral cytopaenia
• Qualitative abnormality of cell maturation
• Blast cells of >5%

Question 2

What is the epidemiology surrounding myelodysplastic syndromes?

Answer 2

They are typically seen in the elderly.

Question 3

What are the clinical features of myelodysplastic syndromes?

Answer 3

• Features of BM failure (anaemia, infection, bleeding)
• Hypercellular BM
• On film, signs of defective cells:

RBC: ringed sideroblasts
WBC: Pelger-huet anomalies, hypogranulation
Platelets: micromegakaryocytes

Question 4

What are the treatment options for myelodysplastic syndromes?

Answer 4

• Supportive: transfusions, EPO
• Biological modifiers
• Chemotherapy
• Stem cell transplant

Question 5

What is the prognostic criteria for myelodysplastic syndromes?

Answer 5

Depends on the International Prognostic Scoring System:

• BM blast %
• Karyotype
• Hb
• Platelets
• Neutrophils

Scoring gives prognostic value

Question 6

What is the prognosis for patients with myelodysplastic syndromes?

Answer 6

• 1/3 will die of infection
• 1/3 will die of leukaemia
• 1/3 will die of bleeding

Question 7

What are the two types of refractory anaemia with excess blasts?

Answer 7

1 and 2:

1: 5-9% blasts
2: 10-19% blasts

> 20% blasts is acute myeloid leukaemia

Question 8

What is aplastic anaemia?

Answer 8

The inability to produce adequate blood cells

Question 9

What are the clinical features of aplastic anaemia?

Answer 9

The features will depend on the cytopaenia

Question 10

What are the causes of aplastic anaemia?

Answer 10

Idiopathic - 70% of cases
Inherited causes

Secondary causes: malignancy, radiation, drugs, viral infections, auto-immune conditions

Question 11

What is the epidemiology of aplastic anaemia?

Answer 11

It is very rare. It has a bimodal distribution, with peaks at 15-24 and those >60. Up to a third of cases will relapse.

Question 12

What is the management of aplastic anaemia?

Answer 12

• Supportive measures: transfusions, antibiotics, iron chelation (when ferritin >1000)
• Drugs: oxymethalone
• Immunosuppressants (for idiopathic causes)
• Stem cell transplant

Question 13

Describe some inherited aplastic anaemias

Answer 13

Fanconi’s Anaemia

• Autosomal recessive, most common inherited AA
• Presents at 5-10 years
• Skeletal abnormalities (thumb), renal malformations, microphthalmia, short stature, skin pigmentations
• 30% will have MDS, 10% will have AML
• A third will be normal

Dyskeratosis Congenita

• X-linked, characterised by chromosomal instability
• Triad: skin pigmentation, nail dystrophy, leucoplakia
• BM failure

Schwachman-Diamond Syndrome

• Autosomal recessive
• Primarily neutropenia
• Skeletal abnormalities, endocrine dysfunction, hepatic impairment
• AML risk

Diamond-Blackfan Syndrome

• Pure red cell aplasia
• Presents at 1 year
• Causes a range of abnormalities (heart, brain, hearing)