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Paediatrics > Haematology > Flashcards

Haematology Flashcards

1
Q

80% of chidhood leukaemias are what type? what are 15% of the others?

A

Acute lymphoblastic leukaemia

Acute myeloid leukaemia

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2
Q

5 syndromes that have increased likelihood of developing leukaemia?Type of anaemia assocaited with AML?

A 
Down's Syndrome (AML in early life, ALL later)
Bloom Syndrome 
Fanconi Syndrome (AML)
Noonans Syndrome
Kostmanns Syndrome
Diamond black fan anaemia
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3
Q

What leukaemia do Down’s Syndrome individuals have increased chances of developing?

A

AML in early life (1/100)

ALL in later life

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4
Q

Bloom syndrome risk of developing leukaemia?

A

1/8

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5
Q

Noonan’s syndrome what is the leukaemia they are prone to developing? how is it treated?

A

Juvenille myelomonocytic leukaemia

Need bone marrow transplant without chemo beforehand

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6
Q

Type of leukaemia has nearly a 100% concordance in twin children?

A

infant acute lymphoblastic leukaemia

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7
Q

What is the Kinlen hypothesis of leukaemia development?

A

after intense population mixing there are higher rates of infection in the previously unexposed individuals

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8
Q

What type of leukaemia can benzene cause?

A

Acute myeloid leukaemia

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9
Q

If blast cells are found in the peripheral blood stream what is this known as? who is most effected?

A

Transient myeloproliferative disorder

Down’s syndrome

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10
Q

How long does transient myeloproliferative disorder last for?

A

8-12 weeks

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11
Q

What are you more likely to develop if you suffer transient myeloproliferative disorder?

A

Acute myeloid leukaemia

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12
Q

Clinical presentation of leukaemia?

A 
low Hb - pallor, tired
low neutrophils - infections, sepsis
low platelets - petechiae, bruising
bone pain
hepatosplenomegaly
lymphadenopathy 
Leukaemic skin deposits
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13
Q

What does a bone marrow aspirate differentiate between?

A

Myeloid leukaemias, T cell, B cell precursors (early pre b, pre-b, c(mu))

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14
Q

3 trisomies that relate to development of leukaemia?

A

4,10,17

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15
Q

which 3 gene mutations lead to leukaemia?

A

BCR-ABL
TEL-AML1
MLL

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16
Q

What 4 fusion transcripts does PCR tell you regarding leukaemia diagnosis?

A

BCR-ABL (p190:p210)
MLL-AF4
E2A-PX1
TEL-AML1 t(12:21)

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17
Q

Which type of mutation is Philadelphia positive ALL?

A

BCR - ABL (p190:p210)

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18
Q

Why do you perform a lumbar puncture in leukaemia?

A

See if there has been any infiltration into the CNS with blast cells

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19
Q

CSF count of white cell and blasts. what is classified as CNS 1, CNS 2 and CNS 3?

A

CNS 1 = less than 5 WBC, no blasts
CNS 2 = less than 5 WBC but blasts
CNS 3 = more than 5 WBC and blasts

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20
Q

What prophylaxis is given to children to prevent leukaemia spreading to the CNS?

A

Methotrexate

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21
Q

When is minimal residual disease checked for in children with leukaemia?

A

after 1 month of chemo, PCR

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22
Q

What is the risk of relapse if you dont have minimal residual disease less than 1 in 1x10^4

A

30-40%

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23
Q

5 drugs that can cause secondary AML

A 
Cyclophosphamide
Ifosfamide
Melphanan
Etoposide
Myelodysplasia
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24
Q

How does infant ALL present differently to older children?

A

High WCC
CNS involved
myeloid features
CD10 negative - pro-b phenotype

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25
Q

What 3 MLL gene arrangements are common in Infant ALL?

A 
MLL T(4:11)
MLL T(11:19)
MLL T(9:11)
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26
Q

Define primary immune thrombocytopenia?

A

an isolated platelet count of less than 100 x10^9, normal WBC and RBC

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27
Q

What is primary immune thrombocytopenia sometimes called?

A

Idiopathic thrombocytopenic purpura

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28
Q

What is primary immune thrombocytopenia usually following in children?

A

infection, viral illness

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29
Q

Persistent vs chronic primary immune thrombocytopenia?

A 
Persistent = 3 months - 1 year
Chronic = over a year
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30
Q

How long does primary immune thrombocytopenia usually persist for?

A

6 months

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31
Q

What is the most common bleeding sites associated with primary immune thrombocytopenia?

A

GI, epitaxis

Intracranial haemorrhage but rare

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32
Q

What does bone marrow film show in primary immune thrombocytopenia?

A

increased number of megakaryocytes

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33
Q

What is usual presentation of a child with primary immune thrombocytopenia?

A

Petechiae rash following by viral illness/URTI
History of bleeding - gums, epitaxis, bruising, blood in stools
Diarrhoea

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34
Q

When would a rash be more suspicious of meningitis than primary immune thrombocytopenia?

A

If there was a fever

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35
Q

What questions do you ask in the history of someone with suspected primary immune thrombocytopenia ?

A 
Any vaccinations?
Any fevers?
is purpura non-blanching (will be)
any anaemia (shouldnt be)
Any lymphadenopathy or splenomegaly (shouldnt be)
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36
Q

Differential diagnosis for low platelet counts?

A

Meningitis - usually very unwell
viral - parvovirus B19, CMV, HIV
Leukaemia
Primary immune thrombocytopenia

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37
Q

Rare causes of thrombocytopenia?

A

aplastic anaemia - fanconi anaemia, radiation, virus, drugs

Evans syndrome

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38
Q

What are the 3 features of Evans syndrome?

A

anaemia, thrombocytopenia and a positive Coombs

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39
Q

Presentation of thrombocytopenia what investigations are performed?

A 
FBP
Reticulocyte count
Coagulation screen
Blood group with a group and hold
Peripheral blood film and bone aspirate if abnormalities are then seen
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40
Q

When is a bone marrow aspirate performed on children presenting with thrombocytopenia?

A

If abnormalities are seen on peripheral blood film

If thrombocytopenia becomes chronic

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41
Q

If thrombocytopenia has not resolved in 6 months what investigations do you perform?

A

Direct antiglobulin test
Quantitive Ig level
Virology - CMV and parvovirus and HIV

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42
Q

What is the bleeding score?

A

a score to determine whether intervention is necessary with treatment

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43
Q

Description of grade 1 on the bleeding scale

A

grade 1 = petechiae not too many, bruises less than 5 and no mucosal bleeding

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44
Q

Description of grade 2 on the bleeding scale

A

Grade 2 = more than 100 petechiae, more than5 large bruises and no mucosal bleeding

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45
Q

Description of grade 3 on the bleeding scale

A

Grade 3 = moderate bleeding and mucosal bleeding

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46
Q

Description of grade 4 on the bleeding scale

A

Grade 4 = mucosal bleeding and suspected internal haemorrhage

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47
Q

How do you manage patients who are monitored on the bleeding scale but discahrged home

A 
Appropriate information to parents, contact number in emergencies at all times and only when there is a lack of significant bleeding
Avoid contact activities 
no diving in the swimming pool
helmet when cycling
attend school - monitored outside
no herbal remedies
Chicken pox contact - medical advice
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48
Q

If a child must be admitted for treatment of thrombocytopenia what 2 treatment options are there?

A

Prednisolone 2mg/kg for 7 days and then wean over 7 days

Ig 1g/kg

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49
Q

What is the last resort treatment for thrombocytopenia?

A

Splenectomy

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50
Q

SE of short term steroids?

A

Mood, appetite, appearance

Mask leukaemia

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51
Q

SE of long term steroids?

A 
Osteoporosis
Hypertension
Growth disorders
diabetes
suppress stress response
suppress immune system
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52
Q

Why is suppressing the immune system a nasty side effect of steroids in children?

A

Chicken pox infection so much worse - need Varicella Ig

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53
Q

How many donors go into Igs?

A

10,000

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54
Q

What are the 2 treatment options for chronic ITP?

A

Rituximab and Eltrompopag

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55
Q

Short term SE of Rituximab?

A

Chills, fever, headache, tiredness, allergic reaction

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56
Q

Long term SE of Rituximab?

A

neutropenia, infection, haematological malignancy

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57
Q

What is classified as anaemic in children 3 months old through to puberty?

A

Below 110g/L

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58
Q

How can you tell whether the anaemia is normocytic/microcytic/macrocytic?

A

MCV

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59
Q

In iron deficiency anaemia what happens to MCV, MCH, MCHC?

A

all decrease

60
Q

Iron deficiency anaemia vs chronic anaemia - what is the iron level and the iron binding capacity

A

In iron deficiency anaemia there is decreased iron but increase iron binding capacity whereas in chronic anaemia there is decreased iron and decreased iron binding capacity

61
Q

Clinical features of anaemia in babies?

A

anaemic, glossitis, angular stomatitis, nail changes, irritable, cognitive changes, developmental delays

62
Q

If a baby is presenting as anaemic, what do you need to rule out the cause being?

A

coeliac

63
Q

What is the iron supplement dosage in an anaemic child?

A

3-6mg/kg/day

64
Q

what is an acceptable increase rate of iron in baby?

A

10g/L every month

65
Q

Hereditory haemolytic anaemias can take what 2 forms?

A

Defect in red cell membranes

Defect in red cell metabolism

66
Q

What is an example of a defect in red cell membranes causing hereditory haemolytic anaemia?

A

Hereditory spherocytosis

67
Q

What is hereditory spherocytosis and what symptoms does it present with? Treatment?

A

Spherical RBCs
Jaundice, splenomegaly, anaemia, increased reticulocyte
Treatment is qith splenectomy and iron supplements

68
Q

What is an example of a defect in red cell metabolism that causes hereditory haemolytic anaemia? mode of inhertiance? How does it present?

A

G6PD deficiency
X-linked
presents with haemolysis after exposure to oxidising agents - antimalarials, antibiotics, mothballs, chinese remedies

69
Q

Acquired haemolytic anaemia will be positive in what test?

A

Coombs

70
Q

2 types of acquired haemolytic anaemias?

A

warm auto-immune haemolytic anaemias and cold auto-immune haemolytic anameias

71
Q

Describe warm-autoimmune haemolytic anaemias? mediated by? associated to? presents as?

A

Ab present at 37 degrees
associated with other autoimmune like lupus
IgG mediated
Splenomegaly, haemolytic anaemia

72
Q

What is the treatment for warm autoimmune haemolytic anaemia?

A

corticosteroids
IV Ig
potentially blood transfusions and folic acid supplements

73
Q

what is the difference in mediating factors between warm and cold autoimmune haemolytic anaemia

A 
Warm = IgG mediated
Cold = cd3 complement mediated
74
Q

What 2 infections can lead to haemolytic anaemia?

A

EBV

Mycoplasma

75
Q

What is the name for the acute episode of haemolysis occuring after a cold episode?

A

Paroxysmal cod haemoglobinuria

76
Q

How does ABO incompatability occur?

A

IgG transfer from mother to baby

77
Q

What can rhesus disease cause in the newborn?

A

Hydrops Fetalis and IUD

78
Q

What can hydrops fetalis result in for the baby if left untreated?

A

Kernicterus

79
Q

What is the dominant haemoglobin after 3-6 months of age and what is the formula version?

A

HbA 2alpha 2 beta

80
Q

What is the dominant haemoglobin in fetal life and what is the formula version?

A

HbF 2 alpha 2 gamma

81
Q

What is the haemoglobin that develops in 1.5-3% of people past 3-6 months of life and what is the formula version?

A

HbA2 2 alpha 2 delta

82
Q

What mutation leads to alpha thalassaemia syndrome?

A

Point or delete mutation

83
Q

What happens if all 4 alpha genes are lost?

A

hydrops fetalis

death in utero

84
Q

What happens if 3 alpha genes are lost?

A

beta 4
HbH
microcytic, hypochromic, splenomegaly

85
Q

What happens in alpha thalassaemia trait?

A

loss of 1 or 2 alphas
no anaemia
MCV and MCH both drop

86
Q

How is alpha thalassaemia trait diagnosed differently to more severe alpha thalassaemia?

A 
Trait = DNA analysis
Severe = electrophoresis
87
Q

Inheritance pattern and mutation involved in beta thalassaemia?

A

Autosomal recessive

point mutation

88
Q

Beta 0 vs beta +?

A 
B0 = no beta chains produced
B+ = small amount of beta chains are produced
89
Q

Symptoms of beta thalassaemia?

A

Severe anaemia, hepatosplenomegaly, marrow hyperplasia - extramedullary haemopoiesis, fractures

90
Q

What will the Hb be made up of primarily in beta thalassaemia?

A

HbF

91
Q

What is the management of major beta thalassaemia?

A 
Blood transfusions
folic acid
splenectomy if needed
Endocrine if there is end organ failure or puberty delay
Bone marrow transplant
92
Q

Symptoms of beta thalassaemia minor?

A

often symptomless maybe minor aneamia

93
Q

What is the mutation that occurs in sickle cell anaemia?

A

Substitute occuring on the beta chain substituting a valine for glutamic acid at position 6

94
Q

Why do red cells sickle?

A

when there is low oxygen tension causes them to crytallise

95
Q

What occurs due to sickle HbSS?

A

severe anaemia, splenomegaly, gallstones
Venocclusive - infarction, infection, dehydration
Visceral crisis - chest, liver, spleen, acute abdomen
Aplastic crisis - parvovirus, folate deficiency

96
Q

How do you manage a sickle cell crisis?

A

warm, rehydrate, treat cause, analgesia, blood plasma exchange to remove sickle, hydroxyurea to increase HbF

97
Q

What is a curative treatment for HbSS?

A

stem cell transplant

98
Q

3 times you need to be careful about sickle cell trait?

A

Pregnancy, anaesthetic, high altitudes

99
Q

Fanconi anaemia inheritance pattern, type of anaemia, pathogenesis? risk of what else? treatment?

A 
Autosomal recessive
Aplastic anaemia
Abnormal growth of skeleton
Defective DNA repair
AML
Need bone marrow transplant
100
Q

In aplastic anaemia, what will be seen on blood film and bone marrow aspirate?

A

Blood film - pancytopenia

Bone marrow aspirate - hypoplastic marrow with fat cells instead of haemopoietic tissue

101
Q

3 forms of supportive care given in aplastic anaemia?

A

blood transfusions
platelet transfusions
treat infection

102
Q

What treatment can be given for aplastic anaemia?

A

ALG - anti T cell Ig
ciclosporin or steroids
stem cell transplant

103
Q

How is anaemia caused in diamond blackfan anaemia?

A

Red cell aplasia

104
Q

Causes of transient anaemia in children?

A

Parvovirus B19
Transient myeloproliferative disorder
Congenital dyserythropoietic anaemia

105
Q

Syndrome that can produce low neutrophil counts?

A

Kostmanns Syndrome

106
Q

What is langerhans cell histiocytosis? LCH

Treatment?

A

clonal expansion of langerhan cell precursor
dendritic cell family usually destroying invading organisms
Chemotherapy

107
Q

Haemophagocytic lymphohistiocytosis? HLH
Presentation?
Findings on examination?

A

Proliferation of macrophages, nucleating red cells, platelets
Very unwell, temperatures
Hepatosplenomegaly, deranged LFTs, coag and reduced fibrinogen, increased ferritin and triglycerides
Sees haemophagocytosis in bone marrow

108
Q

Treatment of haemophagocytic lymphohistiocytosis?

A

Immunosuppression
Chemo
SCT

109
Q

Haemophillia A is inherited how? deficiency in what? presents as? complications lead to?
APTT/prothrombin?

A 
X linked recessive
factor 8 deficiency
haemoathrosis and bruising, muscle haematomas
joint deformities
long APTT
normal prothrombin
110
Q

Severe Haemophillia A diagnosed with levels below what IU/mL?

A

0.01 (1%)

111
Q

Moderate Haemophillia A diagnosed with levels below what IU/mL?

A

0.01-0.05 (5%)

112
Q

Mild Haemophilia A diagnosed with levels below what IU/mL?

A

over 0.05 (5-20%)

113
Q

How do you manage someone with Haemophillia A?

A

Recombinant factor VIII in bleeding episode or 3 times a week prophylactically in severe cases

114
Q

Haemophillia B refers to deficiency in what? inheritance pattern? management?

A

Factor IX deficiency
X linked recessive
Recombinant factor IX

115
Q

What is the purpose of Von Willebrand factor?

A

Cause adhesion of platelets to damaged endothelium

Carries factor 8

116
Q

Inheritance pattern of VW disease?

A

autosomal dominant

117
Q

Difference between Type 1, 2 and 3 VWD?

A

type 1 = lacking VW factor
Type 2 - defective vw factor
Type 3 = no VW factor

118
Q

Clinical features of VWD?

A 
bleeding mucous membranes
haemorrhage following surgery
menorrhagia
Increased bleeding time
Factor 8 deficiency
low VWF
119
Q

How do you treat VWD related bleeding episode?

A

pressure on the wound
antifibrinolytic like tranexamic acid
desmopressin (DDAVP)
factor 8 concentrate (human derived factor 8 and VWF)

120
Q

Vitamin K deficiency effects which coagulation factors?

A

2, 7, 9 , 10

121
Q

Haemorrhagic disease of the newborn occurs how long after delivery and caused by what? treatment?

A

2-4 days
Vitamin K deficiency
Treat with vit K

122
Q

Haemorrhagic disease of the new born presents how?

A

GI bleeding, bleeding from cord, cephalohaematoma

123
Q

Which babies usually experience haemorrhagic disease of the newborn?

A

Breast fed babies

124
Q

In more severe cases of haemorrhagic disease of the newborn what can be given on top of Vit K?

A

FFP/prothrombin

125
Q

Name 4 hereditary disorders of thrombosis?

A

Factor V Leiden
Protein S deficiency
Protein C deficiency
Antithrombin deficiency

126
Q

Tests would you do on a child presenting with lymphadenopathy?

A 
FBP
CRP ESR
LFT
LDH
Monospot
PCRs - EBV, CMV, HIV, Toxoplasmosis, Bartonella
CXR
USS
Biopsy
127
Q

Tests for a child with splenomegaly?

A 
Leukaemia
Thalassaemia
Sickle cell
haemolytic anaemia - G6PD, spherocytosis, warm/cold autoimmune
EBV infection
Portal vein hypertension
Systemic disease or storage disease
128
Q

6 non haemolytic causes of anaemia?

A

B12, folate or iron deficiency
Malabsorption
bone marrow failure
blood loss

129
Q

Haemolytic causes of anaemia?

A 
Spherocytosis
G6PD deficiency
Alpha thalassaemia
Beta thalassaemia
Sickle cell disease
Leukaemia
130
Q

History questions to ask about in a child with anaemia?

A 
Lethargy
Poor feeding
Breathlessness
Pallor
Growth
Any bleeding or bruising
Infections
PICA
How long has the problem been there?
FH - ethnic minorities, sickle cell, thalassaemia
DH - NSAIDs?
Any blood loss
Birth history, antenatal
Dietary history - age of weaning
131
Q

What is the nail condition that can result due to iron deficiency anaemia?

A

Koilonychia

132
Q

Risk factors for iron deficiency anaemia?

A 
Preterm
Low birth weight
multiple births
exclusive breast fed for over 6 months
cows milk excess
133
Q

3 tests to confirm iron deficiency anaemia in child and what is usual reference ranges?

A

FBC, blood film, iron studies

110-130g/dL

134
Q

Alternative to iron deficiency anaemia when presented with decreased Hb, MCV and MCHC?

A

Thalassaemia trait
Lead poisoning
Chronic disease

135
Q

Dietary advice for iron deficiency anaemia?

A

Iron rich diet and avoids cows milk consumption

136
Q

What is dose of iron supplement?

A

3-6mg/kg/day (max 200mg) in 2-3 divided doses

137
Q

After 1 week of iron supplements whats should be checked in a child?

A

FBC and reticulocyte count

138
Q

Normal age of presentation in sickle cell disease?

A

3 months - 6 years

139
Q

Causes of a petechiae rash?

A 
ITP
Leukaemia
Meningococcal disease
Coughing, crying
Trauma 
Viral and bacterial infections
140
Q

What additional blood tests could you perform once ITP is diagnosed with low platelets?

A

Blood film
Reticulocyte count
Coagulation screen
Blood group

141
Q

What is ITP? how long does it usually last?

A

Immune mediated thrombocytopenia usually following infection

Chronic after 12 months and need bone marrow aspirate

142
Q

In the case of active bleeding in ITP what 2 things are given initially?

A

Prednisolone (2mg/kg/day for 7 days then wean over 14) and Ig (1g/kg IV

143
Q

How often is platelet count taken in follow up after treatment for ITP?

A

Weekly for 1 month, monthly up to 6 months and then every 3 months

144
Q

If thrombocytopenia persists for 6 months after treatment then what tests need to be performed?

A

DIrect antiglobulin test
Virology - CMV, Parvovirus, HIV
Check VZV immunity

145
Q

Advice to parents about their child who has ITP?

A 
Avoid contact sports
Avoid ibuprofen
Contact number for emergencies
Warning signs to look out for 
Helmet when cycling
Written information from ITP association website
Inform doc if in contact with chicken pox and VZ Ig neg and on steroids
Supervision in playground
Emergency card
146
Q

If someone with ITP bangs their head what questions do you want to ask them?

A 
What happened
Witnesses
LOC? how did you feel before and after?
Vomiting
Cry immediately
Dizzy, personality changes, sight, hearing, headache, loss of appetite, fit or collapse, seizure, clear fluid from nose or ears?

Paediatrics (20 decks)

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