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Haematology (E) > Myelodysplastic Syndromes and Aplastic Anaemia > Flashcards

Myelodysplastic Syndromes and Aplastic Anaemia Flashcards

1
Q

What are myelodysplastic syndromes?

A

Biologically heterogeneous groups of acquired haemopoietic stem cell disorders

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2
Q

What characterises myelodysplastic syndromes?

A

The development of a clone of marrow stem cells with abnormal maturation resulting in functionally defective blood cells AND numerical reduction
Is also associated with increased risk of transformation to leukaemia

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3
Q

What are the presenting features of myelodysplasia?

A

Typically a disorder of the elderly
Symptoms/signs are those of general marrow failure
Develops over weeks & months

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4
Q

What are the morphological features of blood and bone marrow in myelodysplastic syndrome?

A

Pelger-Huet anombaly (bilobed neutrophils)
Dysganulopoiesis of neutrophils
Dyserythropoiesis of red cells
Dysplastic megakaryocytes e.g. micro-megakaryocytes
Increased proportion of blast cells in marrow

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5
Q

What is the normal proportion of blast cells in bone marrow?

A

<5%

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6
Q

What is the classification of MDS based on?

A 
Number of dysplastic lineages
Percentage of blasts in bone marrow and peripheral blood
Cytogenetic findings
Percentage of ringed sideroblasts
Number of cytopenias
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7
Q

What is an important gene mutation in MDS?

A

TP53

EZH2, ETV6, RUNX1, ASXL1

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8
Q

What increases the chance of MDS developing into acute myeloid leukaemia?

A

High blast cells

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9
Q

What is the rule of 1/3rds in MDS?

A

1/3 die from infection
1/3 die from bleeding
1/3 die from acute leukaemia

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10
Q

Why is AML that has progressed from MDS hard to treat?

A

No functioning stem cell

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11
Q

What are the treatment options for MDS?

A

Allogenic stem cell transplantation (SCT)
Intensive chemotherapy
However, as majority of patients are elderly they are unlikely to tolerate these

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12
Q

What supportive care is given to patients with MDS?

A

Blood product support
Antimicrobial therapy
Growth factors (Epo, G-CSF), TPO-Receptor Agnoist)

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13
Q

What biological modifiers can be used in treatment of MDS?

A

Immunosuppressive therapy
Hypomethylating agents
Lenalidomide (for del(5q) variant)

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14
Q

What chemotherapies can be used in MDS?

A

Oral: hydroxyurea

Low dose sub cut cytarabine

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15
Q

What is bone marrow failure?

A

Results from damage or suppression of stem or progenitor cell

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16
Q

What are the types of bone marrow failure?

A

Pluripotent haematopoietic cell - impairs production of all peripheral blood cells - RARE
Committed progenitor cells - results in bi-or unicytopenias

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17
Q

What are the primary causes of bone marrow failure?

A

Congenital: Fanconi’s anaemia (multipotent stem cell)
Diamond-Blackfan anaemia (red cell progenitors)
Kostmann’s syndrome (neutrophil progenitors)
Acquired: idiopathic aplastic anaemia (multipotent stem cell)

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18
Q

What are the secondary causes of bone marrow failure?

A 
Marrow infiltration
Haematological (leukaemia, lymphoma, myelofibrosis)
Non-haematological (solid tumours)
Radiation
Drugs
Chemicals (benzene)
Autoimmune
Infection (Parvovirus, viral hepatitis)
19
Q

How can we break down the types of drugs that cause marrow failure?

A 
Predictable e.g. cytotoxic
Isiosyncratic - rare
Antibiotics
Diuretics
Antithyroid drugs
20
Q

What antibiotics can cause marrow failure?

A

Chloramphenicol

Sulphonamide

21
Q

What diuretics can cause marrow failure?

A

Thiazides

22
Q

What antithyroid drug can cause marrow failure?

A

Carbimazole

23
Q

What is the epidemiology of aplastic anaemia?

A

2-5cases/million/yr
All age groups can be affected
Peak incidence: 15-24yrs and >60yrs

24
Q

What is the classification of aplastic anaemias?

A

Idiopathic - vast majority
Inherited
Secondary
Miscellaneous

25
Q

Give examples of inherited aplastic anaemia

A 
Dyskeratosis congenita (DC)
Fanconi anaemia (FA)
Shwachman-Diamond syndrome
26
Q

What are some secondary causes of aplastic anaemia?

A

Radiation
Drugs e.g. cytotoxic agents, chloramphenicol, NSAIDs
Viruses e.g. hepatitis
Immune: SLE

27
Q

What are the miscellaneous causes of aplastic anaemia?

A

PNH (Paroxysmal nocturnal haemoglobinuria)

Thymoma

28
Q

What is the pathophysiology of idiopathic AA?

A

Failure of BM to produce blood cells
‘Stem cell’ problem (CD35, LTC-IC) [Long-Term Culture-Initiating Cells]
Immune attack:
Humoural or cellular (T cell) attack against multipotent haematopoietic stem cell

29
Q

What are the clinical findings of aplastic anaemia?

A

Anaemia - fatigue, breathlessness
Leucopenia - infections
Platelets - easy bruising/bleeding

30
Q

How is aplastic anaemia diagnosed?

A

Blood - cytopenia

Marrow - hypocellular

31
Q

What are some differential diagnoses for pancytopenia and hypocellular marrow

A

Hypoplastic MDS / AML
Hypocellular acute lymphoblastic leukaemia
Hairy cell leukaemia
Mycobacterial (usually atypical) infection
Anorexia nervosa
Idiopathic thrombocytopenic purpura

32
Q

What is the Camitta criteria for severe aplastic anaemia?

A 
2 out of 3 peripheral blood features:
1. Reticulocytes <1% (<20 x 10^9/L)
2. Neutrophils <0.5 x 10^9/L
3. Platelets <20 x 10^9/L
\+ Bone marrow <25% cellularity
33
Q

What are the steps to bone marrow failure treatment?

A 
Seek and remove cause
Supportive
Immunosuppressive
Drugs to promote recovery of marrow
Step cell transplantation
34
Q

What immunosuppressive therapy is given in bone marrow failure?

A

Anti-thymocyte globulin
Steroids
Eltrombopag
Cyclosporine A

35
Q

What drugs are given to promote marrow recovery?

A

Oxymethone, TPO receptor agonists

36
Q

What specific treatment is there for aplastic anaemia?

A 
Immunosuppressive therapy - older patient
	○ Anti-lymphocyte globulin (ALG)
	○ Ciclosporin
	○ Eltrombopag
• Androgens - oxymethalone
• Stem cell transplantation
	○ Younger patient with donor (80% cure)
VUD/MUD >40 years (50% survival)
37
Q

What are the features of supportive aplastic anaemia treatment?

A

Blood products
Antimicrobials
Iron chelation therapy

38
Q

What late complications may occur following immunosuppressive therapy for AA?

A

Relapse of AA
Clonal haematological disorders: myelodysplasia, leukaemia
Solid tumours

39
Q

What congenital malformations may occur in 60-70% of children with Fanconi’s Anaemia?

A 
Short stature
Hypopigmented spots and café-au-lait spots
Abnormality of thumbs
Microcephaly or hydrocephaly
Hypogonadism
Developmental delay
No abnormalities in 30%
40
Q

What are the complications of Fanconi’s anaemia?

A 
Aplastic anaemia
Leukaemia
Liver disease
Myelodysplasia
Cancer
41
Q

What is dyskeratosis congenita?

A

An inherited disorder characterised by: bone marrow failure, cancer predisposition and somatic abnormalities

42
Q

What is Fanconi’s anaemia?

A

Most common form of inherited aplastic anaemia

Autosomal recessive or X-linked inheritance

43
Q

What is the presentation of dyskeratosis congenita?

A

Skin pigmentation
Nail dystrophy
Leukoplakia

Haematology (E) (14 decks)

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