1.5 Red cell disorders 2: aplastic anaemia, myelodysplastic syndrome Flashcards Preview

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Flashcards in 1.5 Red cell disorders 2: aplastic anaemia, myelodysplastic syndrome Deck (28):
1

Define aplasia

No tissue

2

Define Dysplasia

Bad tissue

3

Define hyperplasia

More tissue than normal

4

Define hypoplastic

Less tissue than normal

5

define pancytopenia

reduction in all cell types (red, white and platelets)

6

What are the possible causes of bone marrow aplasia?

Genetic: Fanconi anaemia, dyskeratosis congenita

Drugs: antibiotics, anti-inflammatory, anti-convulsants, anti-thyroid, anti-cancer, anti-diabetics, antidepressants

Chemicals: benzene, nitrogen mustard

Radiation

Infection: non-A, non-B, non-C viral hepatitis

Immune in 70-80% cases

7

define aplastic anaemia

Pancytopenia resulting from aplasia of the bone marrow

8

What antigen is over represented in aplastic anaemia?

HLA-DR2

9

What are the clinical features of aplastic anaemia?

Anaemia: tiredness, lethargy, dyspnoea, reduced exercise tolerance, cardiac failure

Thrombocytopenia: bleeding or bruising

Neutropenia: cutaneous and deep-seated infections, opportunistic infections

10

What are the clinical features of aplastic anaemia?

Anaemia: tiredness, lethargy, dyspnoea, reduced exercise tolerance, cardiac failure

Thrombocytopenia: bleeding or bruising

Neutropenia: cutaneous and deep-seated infections, opportunistic infections

11

What tests do you need to do for suspected aplastic anaemia?

- FBC and reticulocyte count
- Blood film examination
- HbF% in children
- Bone marrow aspirate, cytogenetics
- Peripheral blood chromosomal breakage to exclude Fanconi anaemia
- Flow cytometry for GPI-anchored proteins
- Vitamin B12 and folate
- LFT (hepatits)
- Viral: hepatitis, EBV, HIV
- ANti-nuclear antibody and anti-dnDNA
- Chest x-ray (infections and pneumonia)
- Abdominal US and echo
- Peripheral blood gene mutation analysis for dyskeratosis congenital

12

What tests do you need to do for suspected aplastic anaemia?

- FBC and reticulocyte count
- Blood film examination
- HbF% in children
- Bone marrow aspirate, cytogenetics
- Peripheral blood chromosomal breakage to exclude Fanconi anaemia
- Flow cytometry for GPI-anchored proteins
- Vitamin B12 and folate
- LFT (hepatits)
- Viral: hepatitis, EBV, HIV
- ANti-nuclear antibody and anti-dnDNA
- Chest x-ray (infections and pneumonia)
- Abdominal US and echo
- Peripheral blood gene mutation analysis for dyskeratosis congenital

13

What is the initial treatment for aplastic anaemia?

Transfusion of red cells and platelets
Treatment of neutropenic sepsis and shock
Prevent infections
Long term IV line if needed

14

What are the non transplant options for aplastic anaemia?

Immunosuppressive therapy with rabbit-ATG, cyclosporin and steroids to knock out T cells
Oxymethalone

15

What are the complications of allografts?

Graft vs. host disease
graft failure/rejection
Immunosuppression
Opportunistic infection
second malignancies
Infertility

16

Define myelodysplastic syndrome

A heterogenous group of clonal disorders of haemopoietic stem cells leading to ineffective haematopoiesis

17

What are the causes of myelodysplastic syndrome?

Prior chemotherapy
Complication of IAA
Any cause of leukaemia

18

What is the pathophysiology of myelodysplastic syndrome?

Acduired gene mutations in multi potent stem cells which leads to the blockage of maturation, development and/or differentiation

19

What are the clinical features of myelodysplastic syndrome?

Those of bone marrow failure (same as AA)
- Anaemia, thrombocytopenia, neutropenia

20

What are the laboratory findings of myelodysplastic syndrome?

Cytopenia
Macrocytosis

RC: basophilic stippling, dimorphism, Nucleated RBC, Shape abnormalities

Myeloid morphology: pseudo-Pelger-Huet anomaly, hypergranulaton, blasts

Platelets: giant and agranular

Raised reticulocyte and LDH

21

What is the pathophysiology of myelodysplastic syndrome?

Acquired gene mutations in multi potent stem cells which leads to the blockage of maturation, development and/or differentiation

22

What are the laboratory findings of myelodysplastic syndrome?

Cytopenia
Macrocytosis

RC: basophilic stippling, dimorphism, Nucleated RBC, Shape abnormalities

Myeloid morphology: pseudo-Pelger-Huet anomaly, hypergranulaton, blasts

Platelets: giant and agranular

Raised reticulocyte and LDH

Marrow: ring spiderblasts, iron granules

23

What will flow cytometry show in myelodysplastic syndrome?

CD34+ blast count (blasts will be an indication of leukaemia)

24

what are the cytogenetics of myelodysplastic syndrome

5q-, 7q- mutated SF3B1

25

What is the initial treatment of myelodysplastic syndrome?

Transfusion of red cells
Transfusion of platelets
Treat neutropenic sepsis and shock
Prevent infections

26

What is the further management of myelodysplastic syndrome?

Transfusions
Iron chelation
Epo
GCSF
Thrombopoietin analogues
Treat and prevent opportunistic infections

27

When do you use Lenalidomide and what dose?

myelodysplastic syndrome patients with 5q- low/intermediate risk

10mg daily for 21/28 days

28

What is Azacitidine used for and who benefits the most?

myelodysplastic syndrome patients with 7q, -5 -7