Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Year 5 path 3 > Myelodysplastic syndromes and aplastic anaemia > Flashcards

Myelodysplastic syndromes and aplastic anaemia Flashcards

(55 cards)

Start Studying
1
Q

Define myelodysplastic syndrome

A

Myelodysplastic syndrome is an acquired disorder whereby a you get clones of dysfunctional myeloid cells.

You get cytopenia, dysfunctional rbc, myelocytes and thrombocytes, and an increased risk of developing AML.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Who does myelodysplasia affect?

A

The elderly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

List some MDS bone marrow morphological features by cell type

A

Neutrophils:

  • bilobed: pseudo Pelger-Heut anomaly
  • thinning and longing out of nuclear lobe connections: myelokathexis
  • hypogranulation: dysgranulopoeisis

Red blood cells:

  • Dyserythropoeisis of red blood cells
  • Auer rods (this suggests AML)
  • Cytoplasm blebs
  • Ringed sideroblasts

Thrombocytes:

-micro thrombocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What do you called bilobed neutrophils?

A

Pseudo-Pelger-Heut anomaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Differential for bilobed neutrophils

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is myelokathexis?

A

Where the lobes of neutrophils are connected by thin strands

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What features does dyserythropoiesis entail in MDS?

A

Erythrocyte precursors conjoined by cytoplastmic bridges

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What do ringed sideroblasts mean?

A

Siderotic granules around the nucleus as a ring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What do myeloblasts with auer rods suggest?

A

AML (very bad)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the classification system used for MDS?

A

WHO classification - based on number of dysplastic lineages

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What scoring system is used to predict survival and the likelihood of developing acute myeloid leukemia? What is this system based on?

A

IPSS-R:

BM blast percentage
Karyotype
Degree of cytopenia (neutrophils + platelets)
Hb count

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How many genetic abnormalities would confer poor prognosis for MDS?

A

More than 3 abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the evolution of MDS? How long does it take for symptoms to show?

A

Weeks/months

Blood counts deteriorate, worsening consequences of marrow failure

AML evolution

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

As a rule of thumb, what is the cause of death in these patients?

A

1/3 will die from infection
1/3 will die from bleeding
1/3 from acute leukemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Curative treatment of MDS. What’s the main problem with these?

A
  1. SCT - allogeneic stem cell transplant
  2. Intensive chemotherapy

They are sometimes too intense for the elderly.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Supportive treatment of MDS

A

Transfusions
Antibiotics
Growth factors - erythropoeitin, G-CSF, TPO/thromopoetic receptor agonist (to enhance platelet production)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

List some biological supportive drugs for MDS, and how they work

A

Azacytidine and decitabine - both are hypomethylating

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

If the white count is high (which is unusual), what drug is used?

A

Hydroxyurea, also called hydroxycarbamide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Name another type of chemo that can be used in low doses for MDS

A

Low dose chemo - cytarabine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Name a type of biological modifier which is used for a specific variant of MDS

A

Lenalidomide - used for the 5q del variant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

List some primary causes of BM failure

A

Congenital - Fanconi’s anaemia
Diamond-Blackfan anaemia
Kostmann’s syndrome
Acquired idiopathic aplastic anaemia - most common cause

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is Fanconi’s anaemia?

A

Inherited aplastic anaemia, pancytopenia due to a DNA repair defect. Autosomal recessive.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is Diamond-Blackfan syndrome?

Study These Flashcards
A

RBC deficiency, presents neonatally within 1 year

24
Q

What is Kostmann’s syndrome?

Study These Flashcards
A

Severe neutropenia

25
Secondary causes of BM failure?
Haematological - cancer Non - haematological - fibrosis, sold mets Infection - HIV, parvovirus, hepatitis Chemicals (benzene), drugs, radiation Autoimmune
26
Drugs and marrow failure
Predictable - dose dependent, common
27
Phenylbut??? NSaid??
28
List two antibiotics that cause cause BM failure
Chloramphenicol - but you can still get it as eye drops Sulphonamide
29
List diuretics that cause cause BM failure
Thiazides
30
Antithyroid drugs which can cause BM failure
Carbimazole
31
Aplastic anaemia definition epidemiology
BM appears EMPTY Bimodal distribution; teenagers and 60s - Asian?
32
Classification of aplastic anaemia
Idiopathic - vast majority Inherited causes - dyskeratosis congenita Fanconi anaemia Shwachman-Diamond syndrome Second - radiation/drugs/viruses e.g. hepatitis,HIV,SLE Miscellaneous - paroxysmal nocturnal haemoglobuinuria Thymoma
33
What is idiopathic aplastic anaemia?
Failure of BM to produce red blood cells pobably
34
Triad of bone marrow failure findings
Anaemia - tiredness, breathlessness Leucopenia - infection Platelets - bleeding
35
How do you diagnose aplastic anaemia?
Bloods - cytopenia BM biopsy - hypocellular
36
How does aplastic anaemia look?
Looks empty in the bone marrow; fatty replacement
37
Differentials for pancytopenia and hypocellular marrow
ITP Anorexia nervosa Mycopbacteiral infeciton AML Hypocellular acute lymphoblasctic leukemia hairy cell leukemia
38
Severe aplastic anaemia criteria
Camitta criteria - Low reticulocytes <20x10^9L Low neutrophils <0.5x10^9L Low platelets <20x10^9L Bone marrow <25% cellularity
39
Management of bone marrow failure
1. Seek and remove any causes of BM failure 2. Supportive blood/platelet transfusions, antibiotics, iron chelation therapy 3. Immunosuppressive therapy - e.g. antithymocyte globulin, steroids, CyA 4. Drugs to promote marrow recovery - oxymetholone, TPO receptor agonists 5. Stem cell transplantation 6. Other treatments in refractory cases
40
How common is
41
Supportive therapy for aplastic anaemia
Blood products Antimicrobials Iron chelation therapy - ferritin
42
What are the consequences of immunosuppressive therapy for AA?
Relapse of AA (35 percent) Clonal haematological disorders - myelodsyplasia, leukemia Risk of solid tumours
43
What is the most common cause of BM failure, and the most common inherited cause of it?
Most common cause - idiopathic Most common inherited cause - Fanconi's anaemia
44
What is fanconi anaemia?
IT IS THE MOST COMMON FORM OF INHERITED APLASTIC ANAEMIA, causing pancytopenia due to a DNA repair fault
45
Genetics of Fanconi anaemia?
Autosomal recessive or X-linked
46
Symptoms of Fanconi
Short stature Cafeau lait or hypopigmented spots Small head/eyes Thumb abnormalities Hydrocephaly
47
Consequences of fanconi anaemia
Aplastic anaemia - by the age of 10 Leukemia and myeldysplasia Liver dsiease Cancer (epithelial)
48
Dyskeratosis congenita
Marrow failure Cancer predisposition Somatic abnormalities
49
Triad for DC
Skin pigmentation Leukoplakia Nail dystrophy
50
consequences of DC
51
Management of BM failure
Supportive ???
52
Genetics of DC
Telomere shortening act to prevent chromosomal fusion or rearrangements drugin chromosal replication Protect the genes at the end of the chromosome from degradation
53
DC
X-linked - DKC1 ????????????? also automosomal? see slide
54
Telomeric shortening is a feature of
Both dyskeratosis congenita AND aplastic anaemia
55
If a patient is above 50, what do you try?

Year 5 path 3 (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions