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SADL Haematology > BMF/AA > Flashcards

BMF/AA Flashcards

1
Q

Shwachman-Diamond Syndrome clinical features

A
  • Exocrine pancreatic insufficiency (diarrhea)
  • neutropenia
  • BMF
  • FTT
  • skeletal abnormalities (metaphaseal dysplasia, rib cage abnormalities)
  • cognitive/behavioural deficits
  • 20% risk of MDS/AML by age 20
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2
Q

Shwachman-Diamond Syndrome Genetics

A

Auto recessive. SBDS (7q11) in 90%

  • isochrome 7q seen in 45% of MDS with SDS but rare otherwise
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3
Q

What is the inheritance pattern of Fanconi

A

99% autosomal recessive

1% x-linked FANC-B

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4
Q

Which fanconi patients have more of a severe course?

A

FANC-C and FANC-G

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5
Q

What average age do fanconi patients present with aplastic anemia?

A

8-10 yrs

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6
Q

List indications for fanconi screening

A

All with aplastic anemia
Children with mds or aml
Those with birth defects suggestive of FA
Development of cancer at young age
(Squamous cell CA <50yr, vulvar CA <40yrs, uterine CA <30yrs)
Patients with excess cafe sugar lait spots
Patients with growth failure

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7
Q

In TAR describe the upper limb abnormalities

A

Normal thumbs but absent radii

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8
Q

What screening is required in an FA patient on androgen therapy?

A

Annual liver ultrasound to watch for liver malignancy and peliosis hepatis (blood lake) and liver enzymes to watch for transaminitis

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9
Q

How effective is androgen therapy for FA patients?

A

Effective in 50% patients

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10
Q

What triad characterizes dyskeratosis congenita

A

Dysplastic nails
Leukoplakia of oral mucous membranes
Abnormal pigmentation of upper chest and neck

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11
Q

What is median age for onset of pancytopenia in DC?

A

10 yrs old

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12
Q

What major concerns exist with HSCT for DC

A

Increased risk of VOD
Increased risk of interstitial pulmonary disease
Risk of pulmonary fibrosis

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13
Q

What is the remission rate for DBA?

A

20% by age 25

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14
Q

What is the treatment approach for DBA?

A

Transfusions as needed until 1yr old, then prednisone 2mg/kg/day and then reduce to the most tolerated dose

If after 3 mths not transfusion independent (hgb>90) then stop

Consider HSCT especially those transfusion dependent

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15
Q

Definition of severe aplastic anemia

A 
BM cellularity <25%
At least 2 cytopenias:
- ANC < 0.5 (if < 0.2 then VSAA)
- platelets < 20
- reticulocytes < 20
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16
Q

Treatment plans for SAA

A

If MRD available then go to HSCT

If not, IST with:

  • horse ATG, Methylpred and CSA
  • in kids MUD outcomes similar to IST so can consider that as upfront therapy.

If failed IST then MUD or 2nd course with rabbit ATG

If failed 2nd attempt then haplo

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17
Q

ATG side-effects

A 
Headache
myalgia
arthralgia
chillls and fever
chemical phlebitis
pruritis
leukopenia
thrombocytopenia
serum sickness
anaphylaxis
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18
Q

What are the diagnostic criteria for Severe Aplastic Anemia?

A

vere Aplastic Anemia:
Bone marrow cellularity <25 percent (or 25 to 50 percent if <30 percent of residual cells are hematopoietic)
At least two of the following:
•Peripheral blood absolute neutrophil count (ANC) <500/microL (<0.5 X 109/L)
•Peripheral blood platelet count <20,000/microL
•Peripheral blood reticulocyte count <20,000/microL

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19
Q

What are the diagnostic criteria for very severe aplastic anemia?

A

the AA criteria and ANC<200

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20
Q

What inherited bone marrow failure disorders present with isolated RBC cytopenias?

A

DBA
CDA
Pearson Syndrome

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21
Q

What inherited bone marrow failure disorders present with isolated WBC cytopenias?

A

Severe congenital neutropenia
Shwachman-Diamond
Reticular Dysgenesis

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22
Q

What inherited bone marrow failure disorders present with isolated platelet cytopenias?

A

CAMT

TAR

23
Q

What transplant conditioning regimen is used for Fanconi’s anemia

A

No Radiation!

BuFluCy

24
Q

What conditioning regimen is used for DKC?

A

Fludarabine +/- serotherapy

25
Q

What is the triad of DKC

A
  • reticulated skin pigmentation
  • dystrophic nails
  • mucous membrane leukoplakia
26
Q

What are the proposed causes of aplastic anemia?

A 
idiopathic (70%)
Secondary:
-drugs
-chemicals-DDT
-toxins-benzene
-radiation
-infections
-immunologic: CVID
-MDS
-Thymoma
-PNH
-malnutrition
27
Q

What 2 cytokines are felt to play a central role in the pathophys of aplastic anemia?

A

Interferon gamma

TNF

28
Q

What is the most common mutation leading to Fanconi anemia?

A

FANC-A approx 60-70% patients

associated with a later onset of bone marrow failure, around 4yrs old

29
Q

up to what percentage of fanconi patients lack any physical features?

A

40%

30
Q

What cancer surveillance is required in a fanconi patient?

A

yearly bone marrow to assess for MDS/leukemia
yearly head and neck exam over age 7
yearly gyne exam begininning at age 16
breast self exam beginning at age 16
periodic oral cancer and dermatologic screening

31
Q

What mutation causes Kostmann syndrome?

A

homozygous mutation in the HAX1 gene on chromosome 1

32
Q

Mutation in what gene causes Severe Congenital Neutropenia?

A 
ELANE gene (neutrophil elastase gene)-mutations cause high rate of premature apoptosis in neutrophil precursors causing decreased myelopoiesis
these mutations only affect one allele, is usually AD or sporadic inheritance
33
Q

A patient with SCN what does the CBC show?

A

Normal WBC, with ANC <200 and compensatory eosinophilia and monocytosis.
Patients can have mild anemia and thrombocytosis

34
Q

What is the initial treatment for SCN?

A

use G-CSF 5ug/kg/day
expect response in 7-10 days
adjust dose to achieve ANC 1000-1500

35
Q

What % of patients with SCN respond to G-cSF?

A

> 95% will respond

36
Q

What clonal abnormality is more commonly associated with SCN

A

monosomy-7

37
Q

What are the indication for HSCT for patients with SCN?

A
  • Patients who require >8ug.kg/day of G-CSF are more likely to succumb to infection or leukemia
  • Refractory to G-CSF
  • Developing MDS/AML

Should consider HSCT for all patients with HLA matched sibling

38
Q

What is reticular dysgenesis?

A

disorder of stem cells in which maturation of myeloid and lymphoid lineages is defective
Platelets and RBCs are normal
Patients have severe neutropenia and moderate to severe lymphopenia
Theres an absence of peripheral lymphoid tissues-tonsils, peyers patches, splenic follicles
Mortality rate is high from infection at an early age
HSCT can be curative

39
Q

For FA patients how many respond to androgens?

What surveillance should be done when taking androgens?

A

50% respond
Should have yearly abdominal U/S to look for liver tumours or peliosis hepatis (blood lakes)
and LFTs to watch for transaminitis

40
Q

For DKC what is the median age for onset of pancytopenia?

A

10yrs old

50% develop SAA by age 50yrs old

41
Q

For DKC patients what and when do they develop cancers?

A

usually in the 3rd-4th decade

Get AML, carcinomas of the bronchus, tongue, larynx, esophagus, skin and pancreas

42
Q

For HSCT in DKC what are the main concerns/considerations?

A

Increased risk of VOD (reason unknown)
High risk of interstitial pulmonary disease during HSCT
Development of pulmonary and hepatic fibrosis

43
Q

Describe the treatment approach for DBA patients?

A

Before 1yr transfuse as needed

Prednisone 2mg/kg/day and achieve goal of Hb>90, then reduce to lowest possible

44
Q

For DBA what is considered treatment failure for steroids?

A

If Prednisone at 2mg/kg/day for 2-3 months has no effect on making patient transfusion independent, then is a failure

45
Q

What is the response rate to steroids for patients with DBA?

A

80% initally will respond, but the actual remission rate is 20% by age 25yr

46
Q 
What are the mechanisms of action for each bone marrow failure syndrome?
DBA
DKC
FA
SCN
A

DBA-ribosome biosynthesis problem
DKC-deficient telomerase activity
FA-DNA repair defect
SCN-mutation in ELANE gene causing premature apoptosis of neutrophil precursors

47
Q

What is the definition of TEC?

A

spontaneous cessation of erythropoiesis in an otherwise healthy child

48
Q

What are the diagnostic criteria for DBA?

A

Classical criteria:

  • normochromic, usually macrocytic anemia
  • reticulocytopenia
  • normocellular marrow with paucity of erythroid precursors
  • age less than 1yrs

Supporting criteria:
Definitive but not essential:
presence of mutation described in classical DBA

Major:
positive family history
Minor:
congenital abnormalities described in classical DBA
macrocytosis
elevated fetal Hb
elevated eADA
49
Q

What is GATA1?

A

a transcription factor important for erythrocyte and megakaryocyte development

50
Q

For TAR what upper limb abnormalities are seen?

A

both thumbs are present, there is bilateral absence of radii

51
Q

What is the expected prognosis for TAR patients?

A

2/3 can recover their platelet counts spontaneously around 12-24mths, however the eventual recovered platelet count isn’t completely normal

52
Q

What CBC finding are seen in patients with TAR?

A

very low platelets, usually diagnosed in utero or day 1 of life
WBC elevation is commonly seen
anemia can be seen

53
Q

For CAMT at what age due patients progress to aplastic anemia?

A

usually by 5yrs old

aim is to do HSCT by 6-12 months old

SADL Haematology (13 decks)

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