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Haematology and Oncology 2 Flashcards

1
Q

What is Henoch-Schönlein purpura (HSP)?

A

IgA-mediated autoimmune hypersensitivity vasculitis of childhood

Unknown cause

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2
Q

What are the 5 main clinical features of HSP?

A

1) Skin purpura
2) Arthritis
3) Abdo pain
4) GI bleeding
5) Nephritis

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3
Q

How common is HSP?

A

Rare - 10/20 per 100,000 per year

But most common form of systemic vasculitis in children

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4
Q

At what age does HSP occur?

A

90% under 10 years

Peak 4-6 years

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5
Q

What is the pathophysiology of HSP?

A

IgA immune complexes deposit in small blood vessels of skin, joints, kidneys and GIT causing inflammatory reactions

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6
Q

How does HSP present?

A

Child comes in with limp!

Most often in autumn / winter, sometimes following an URTI or GI infection

1) Mildly ill + low grade fever
2) Symmetrical, erythematous macular rash on backs of legs, buttocks, ulnar side of arms
2) Within 24hrs maculses evolve into purpuric lesions which can coalesce to resemble bruises. Raised and palpable
4) Abdo pain and bloody diarrhoea may precede rash
5) +/- n&v
6) Joint pain esp knees and ankles
7) Renal involvement in 40%
- microscopic haematuria
- proteinuria
- nephritic syndrome
- (rarely oliguria and HTN)
8) Scrotal involvement
- Can mimic testicular torsion

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7
Q

Ddx of purpuric rash

A

Thrombocytopenia

Meningococcal meningitis

Trauma

Coughing / sneezing gives pinpoint petechia by ears / above nipples

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8
Q

Ddx of HSP

A

Intussusception

Connective tissue disease eg SLE

Other causes of purpuric rashes

Other causes of glomerulopnetphritis

Other causes of GI symptoms eg IBD

Acute haemorrhage oedema of infancy

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9
Q

What is acute haemorrhage oedema of infancy?

A

Self-limiting condition presenting with fever, oedema and targeted-shaped purpura affecting face, ears and extremities

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10
Q

How is HSP diagnosed?

A

Clinically

Tests include:

1) Urinalysis
- Haeamtuira and/or proteinuria (present in 20-40%)

2) FBC
- Raised WCC with eosinophilia
- Normal or inc platelets
- Helps exclude other causes eg thrombocytopenia

3) Raised ESR
4) Raised creatinine if renal involvement
5) Raised serum IgA

6) Testicular USS
- assess possible torsion

7) Renal biopsy
- Persistent nephrotic sundrome

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11
Q

What should be performed to confirm intussusception?

A

Barium enema

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12
Q

What is the management of HSP?

A

Usually self-limiting (resolves within 4 weeks)

Supportive treatment

NSAIDs for joints
- Caution if renal insufficiency or GI symptoms

Monitor BP and urinalysis for those with proteinuria

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13
Q

What are some complicaitons HSP?

A

Renal involvement usually mild (less than 1% progress to CKD)

Rarely MI, intussusception, GI bleeding, testicular haemorrhage

Recurrence in 1/3rd within 4-6 months of initial presentation

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14
Q

What are the 4 main types of leukaemia?

A

1) Acute lymphoblastic leukaemia (ALL)
2) Chronic lymphoblastic leukaemia (CLL)
3) Acute myeloid leukaemia (AML)
4) Chronic myeloid leukaemia (CML)

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15
Q

How common is leukaemia?

A

Most common malignancy of childhood (30%)

3/100,000 per year

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16
Q

What is the most common leukaemia?

A

ALL

Chronic rare in childhood

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17
Q

What is the pathophysiology of leukaemia?

A

Malignant proliferation of white cell precursors (B or T cells) within bone marrow

These ‘blast’ cells escape into circulation and are deposited in lymphoid or other tissue

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18
Q

What is the peak age of presentation of ALL?

A

Between 2-5yrs

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19
Q

What age of presentation has a worse prognosis of ALL?

A

<2 yr or >10yr

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20
Q

How may ALL present? (8)

A

Insidious

1) Malaise
2) Anorexia
3) Pallor
4) Bruising
5) Bleeding

6) Lymphadenopathy
7) Splenomegaly
8) Bone pain

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21
Q

What may FBC show in ALL?

A

1) Anaemia
2) Thrombocytopenia
3) Raised WCC

Extremely high WCC = rose prognosis

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22
Q

What may be seen on a peripheral blood film in ALL?

A

Blast cells

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23
Q

How is a diagnosis of ALL confirmed?

A

Bone marrow aspirate
- Shows marrow infiltrated with blast cells

Cells examined by immunophenotyping and cytogenetic analysis

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24
Q

What % of ALL have specific genetic abnormalities in the leukaemic cell line? Example?

A

> 90%

eg TEL-AMLI fusion gene = 20% children with ALL

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25
How can ALL be subdivide?
``` Common = 75% T-cell = 15% Null = 10% B-cell = 1% ```
26
What does treatment of ALL involve?
Chemo to induce remission - remove blast cells from circulation and restore normal marrow function Then maintain remission
27
How is remission remained in ALL?
Intensification chemo MTX or cranial irradiation protects CNS from involvement Monthly cycles of maintenance chemo
28
What % of children achieve are successfully induced into remission in ALL?
95%
29
What are children who relapse in ALL offered?
High-dose chemo and bone marrow transplant
30
What is the prognosis of ALL?
Good = 80% 5 yr survival
31
What may a CXR show in ALL?
Mediastinal mass | Lytic bone lesions
32
What are the cells in the myeloid cell line?
RBC Platelets Granulocytes Monocytes
33
What are the cells in the lymphoid cell line?
Lymphocytes
34
What are WBC?
Lymphocyte (lymphoid) Monocytes and granulocytes (myeloid)
35
What is the prognosis of AML?
70%
36
What is lymphoma?
Malignancy of the lymphatic system
37
How common is lymphoma in children?
3rd most common cancer | after leukaemia and brain tumours
38
What are the two main types of lymphoma?
Hodgkin and non-Hodgkin lymphoma (NHL)
39
How is Hodgkins lymphoma characterised?
Presence of multinucleate giant cell = Reed-Sternberg cells
40
What are the 4 types of NHL found in children?
1) Burkitt and Burkitt-like lymphoma 2) Diffuse large B-cell lymphoma 3) Anaplastic large cell lymphoma 4) Lymphoblastic lymphoma (of B or T cell origin)
41
What are some risk factors for NHL?
Male Immunocompromised DNA repair defects
42
How may NHL present?
Painless lymphadenopathy - neck, supraclavicular, axillary, groin
43
What investigations are done for NH:?
``` Bone marrow aspirate LP Pleural and peritoneal fluid asirate Exclusional biopsy CT and PET scans ```
44
What is the treatment of NH:?
Same as ALL
45
What is the prognosis of NH:?
>70% survival in >90% localised disease
46
What are some risk factors for Hodgkin's lymphoma?
``` Inc age (rare before 5yr) More common in pt with previous EBV ```
47
How may Hodgkin's lymphoma present?
Progressive, painless LN enlargement - Mostly cervical and mediastinal B symptoms = common in advanced stages - Fever - Night sweats - Weight loss
48
How is Hodgkin's lymphoma staged?
Ann Arbour staging
49
What investigations are done for Hodgkin's lymphoma?
CT - neck, chest, abdo, pelvis FDT-PET scan Bone marrow aspiration and trephine (remove 1/2cm core of bone marrow) EBV serology ESR Isotope if bone involvement / b symptoms
50
What is the treatment of Hodgkin's lymphoma?
Chemo | Radiotherapy
51
What is the prognosis of Hodgkin's lymphoma?
5 year survival = 90%
52
What may be required in a relapse of Hodgkin's lymphoma?
Autologous stem cell transplant
53
How common is sickle cell anaemia?
Commonest haemoglobinopathies
54
What population does sickle cell anaemia most commonly affect?
Black ethnicity
55
What is the cause of sickle cell anaemia?
Genetic defect where there is a substitution of one of the amino-acids in the global chain Causes an unstable haemoglobin = HbS with shorter lifespan Autosomal recessive
56
What is the pathophysiology of sickle cell anaemia?
When HbS is deoxygenated, it forms highly structured polymers which cause brittle, spiny red cells These occlude blood vessels = ischaemic changes Chronic haemolytic anaemia
57
How may children with sickle cell anaemia present?
Recurrent, acute, painful crises Swelling of hands and feet
58
What may precipitate a crisis in sickle cell anaemia?
Dehydration Hypoxia Acidosis
59
Why may children with sickle cell anaemia be more susceptible to infections?
Repeated splenic infarction (esp in early years) can leave the child asplenic
60
What may lead to dehydration in children with sickle cell anaemia?
Renal damage leading to a reduced ability to concentrate urine
61
What is sickle cell trait?
Heterozygous HbS (as opposed to homozygous in sickle cell disease)
62
How may sickle cell trait present?
Asymptomatic other than in low oxygen situations eg high altitude or under GA
63
What may a physical examination of a child with sickle cell anaemia show?
``` Chronic anaemia Flow murmur Jaundice Chronic leg ulcers Dactylitis Splenomegaly (young child only) Haematuria ```
64
What are the four types of acute crisis in sickle cell anaemia?
1) Thrombotic 2) Sequestration 3) Aplastic 4) Haemolytic
65
What is a thrombotic sickle cell acute crisis?
Aka painful crisis / vaso-occlusive Various organs including bones, eg: - Avascular necrosis of the hip - Hand-foot syndrome - Lungs - Spleen - Brain
66
What is a sequestration sickle cell acute crisis?
Sickling within organs eg spleen/lungs causes pooling blood with worsening anaemia Spleen becomes enlarged causing abdominal pain More common in early childhood
67
What may result from a sequestration sickle cell crisis?
Severe anaemia Marked pallor CV collapse due to loss of effective circulating volume
68
What is an aplastic acute crisis of sickle cell caused by?
Infection with parvovirus B19 (86%) Other causes include viral illness Sudden fall in Hb
69
What is a haemolytic sickle cell acute crisis?
Rare Fall in Hb due to an increased rate of haemolytic
70
Ddx of sickle cell anaemia
``` Leukaemia Arthritis Osteomyelitis Septic artritis Trauma ```
71
What investigations can be done for sickle cell anaemia?
Peripheral blood smear: - Target cells - Poikilocytes (abnormally shaped RBC) - Irreversibly sickled cells Electrophoresis: - HbS - Absent HbA Abnormal LFTs
72
What is the management of sickle cell anaemia?
Treatment of crises is symptomatic Severe cases (very high HbS) - exchange transfusion Immunisations kept up date Daily lifelong prophylactic PO penicillin V to reduce the risk of pneumococcal disease Antenatal screening of affected individuals Daily oral folic acid Bone marrow transplantation can be curative
73
What are some complications of sickle cell anaemia?
Pneumococcal infection due to asplenism Osteomyelitis Renal damage Gall stones HF from chronic anaemia
74
What is the prognosis of aplastic anaemia?
High mortality from sepsis <3yr
75
What is priapism?
Persistent and painful erection of penis Usually nocturnal with risk of long term impotence Can occur in sickle cell crisis
76
What is a neuroblastoma?
Commonest extra cranial tumour in children Malignancy that can affect any part of the sympathetic nervous system most commonly the adrenal medulla
77
What is the peak age of presentation of neuroblastoma?
First 2 years of life
78
How may a neuroblastoma present?
Depends on site of disease Abdo mass +/- associated pain Failure to thrive Bleeding Unwell child Horner's syndrome Spinal cord, airway, bowel or vein compression Increase in urinary catecholamine metabolites - symptoms related to excess catecholamines eg HTN, dizziness, headaches
79
What is the survival of neuroblastoma in: 1) Disseminated disease 2) Low risk cases
1) Disseminated disease = 20-30% | 2) Low risk cases = >90%
80
What is tumour lysis syndrome?
Breakdown of large number of malignant cells either before/during chemo can lead to very high serum rate, phosphate and potassium levels Urate precipitate in kidneys causing renal failure
81
How can tumour lysis syndrome be prevented?
Good hydration Allopurinol (xanthine oxidase inhibitor) or uric acid oxidase
82
What investigations can be done for neuroblastoma?
Urine catecholamine metabolites - homovanillic acid and vanillymandelic acid Imaging (US / MRI) - heterogenous mass with calcification Confirm diagnosis with tumour biopsy + bone marrow biopsy of both iliac crest to check for mets (common at presentation)
83
What is the management of neuroblastoma?
Surgery Chemo Radiotherapy
84
What is a Wilm's tumour?
= nephroblastoma Commonest renal tumour in children
85
What is the mean age of onset of a Wilm's tumour?
3.5 years
86
How does a Wilm's tumour present?
Most commonly = abdo mass May have: - pain - haematuria +/- HTN (inc renin)
87
How may a Wilm's tumour be investigated?
Imaging (US then CT / MRI) shows heterogenous mass causing distortion of renal architecture
88
What is the most common site of metastases of a Wilm's tumour?
Lungs = 20%
89
How is a Wilm's tumour managed?
Nephrecctomy + chemo | adjuvant and/or Neo-adjuvant
90
What is the 5 year survival or a Wilm's tumour?
90%
91
What is the genetic inheritance and pathophysiology of thalassaemia?
Autosomal recessive mutation leading to absence or dysfunction of the alpha or beta globing chains on haemoglobin A (HbA) Cause haemolytic anaemia because of decreased or absent synthesis of a globin chain
92
What is alpha thalassaemia?
Leas to impaired impaired oxygen transport and extravascular haemolysis via splenic clearance
93
What are is the asymptomatic carrier state of alpha thalassaemia?
Alpha-thalassaemia silent carrier (minima) = one allele affected Alpha-thalassaemia trait (minor) = two alleles affected
94
How many alleles are there for alpha and beta?
Alpha: 4 alleles = 2 genes on Chr 16 Beta: 2 alleles = 1 gene on Chr 11
95
What is the asymptomatic carrier state of alpha thalassaemia?
Beta-thalassemia trait (minor) = one beta allele affected
96
What is the symptomatic state alpha thalassaemia?
3 affected alleles (HbH) or 4 affected alleles (Hb Bart)
97
What does Hb Bart cause?
Intrauterine haemolytic anaemia and hydros fettles = usually fatal
98
What is the symptomatic state of beta thalassaemia?
Homozygous for partly functioning alleles (thalassaemia intermedia) or non-functioning alleles (thalassaemia major)
99
What regions are alpha thalassaemia more common in?
Southeast Asia, Africa, India
100
What regions are beta thalassaemia more common in?
Mediterranean, Middle East, Central and South Asia, China = In UK often Greek Cypriot or Bangladeshi origin
101
When does thalassaemia present?
Anytime from neonate to adulthood but later onset tends to be milder
102
Are presenting symptoms more severe in alpha or beta thalassamia?
Symptoms tend to be worse in beta-thalassaemia as the most severe alpha-thalassamia don't survive pregnancy or early life
103
How may thalassaemia present?
1) Haemolytic anaemia - Fatigue - SOB - Pallor - Jaundice (beta) - Cardiac flow murmur 2) Splenomegaly (alpha) or hepatosplenomegaly with abdo distension (beta) 3) FTT / growth restriction 4) Facial dysmorphia 5) Osteopenia (beta)
104
Why may there be a cardiac flow murmur in thalassamia?
High CO
105
What facial dysmorphia is seen in thalassaemia? Is it seen more in alpha or beta?
Fontal bossing Maxillary hypertrophy Large head Commoner and more prominent in beta
106
What investigations are done for thlassaemia?
Preconception screening for both parents in risk populations
107
What would bloods show in thalassaemia?
Hypochromic microcytic anaemia FBC - Low Hb, Low MCV, Low MCH Inc reticulocytes Blood film Inc iron and inc ferritin in severe disease (either due to disease or due to treatment) LFTS - increased unconjugated bilirubin (beta), inc liver enzymes if iron overload
108
How is thalassaemia diagnosed?
Hb electrophoresis Gap-PCR detects common deletions to confirm
109
What is the management of thalassaemia?
Asymptomatic require no specific treatment (just avoid iron supplementation) Transfusion if symptomatic - Regular transfusions Iron chelation if overload Splenectomy / Bone marrow transplantation in severe cases
110
What causes low MCV (microcytic) anaemia and what would you check? (3)
Low ferritin = IDA Abnormal electrophoresis = haemoglobinopathy eg thalassaemia High lead levels = lead toxicity
111
What causes normal MCV anaemia?
High reticulocyte count: 1) Normal bilirubin = recent blood loss 2) Target cells + High bilirubin = haemolysis Low reticulocyte count = chronic illness

extra 1 (e) (19 decks)

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