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My Phase 3a Revision > PAEDS - ONCOLOGY / HAEMATOLOGY > Flashcards

PAEDS - ONCOLOGY / HAEMATOLOGY Flashcards

1
Q

LEUKAEMIA
What is leukaemia?

A

A malignant proliferation of haemopoietic stem cells (immature blood cells)

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2
Q

LEUKAEMIA
Name 4 sub types of leukaemia

A

AML - Acute Myeloid Leukaemia
CML - Chronic Myeloid Leukaemia
ALL - Acute Lymphoblastic Leukaemia
CLL - Chronic Lymphoblastic Leukaemia

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3
Q

LEUKAEMIA
Give 3 environmental causes of leukaemia

A

Radiation exposure
Chemicals (benzene compounds)
Drugs

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4
Q

ALL
What is acute lymphoblastic leukaemia (ALL)?

A
  • Affects precursors to B + T cells
  • It leads to uncontrolled proliferation of immature blast cells affecting both the blood + bone marrow (lymphoid progenitor cells and lymphoblasts)
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5
Q

ALL
What is the epidemiology of ALL?

A
  • 80% of leukaemias in children,
  • peaks at 2–5y
  • associated with ionising radiation
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6
Q

ALL
What are the risk factors for acute lymphoblastic leukaemia (ALL)?

A
  • Trisomy 21,
  • immunocompromised (HIV, immunosuppressants)
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7
Q

ALL
What are the broad categories of clinical presentation in ALL?

A
  • General = anorexia, fever, weight loss, night sweats
  • Bone marrow infiltration = pancytopenia
  • Reticuloendothelial infiltration = hepatmospenolmegaly, lymphadenopathy
  • Other organ infiltration (more common at relapse) = headache, testicular enlargement, bone pain
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8
Q

ALL
How does bone marrow infiltration present in ALL?

A
  • Anaemia (pallor, lethargy),
  • neutropenia (frequent or severe infections),
  • thrombocytopenia (bruising, petechiae, epistaxis)
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9
Q

ALL
How does reticuloendothelial infiltration present in ALL?

A
  • Hepatosplenomegaly,
  • lymphadenopathy
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10
Q

ALL
How is organ infiltration presented in ALL?

A
  • CNS = headaches, vomiting + nerve palsies,
  • testicular enlargement,
  • bone pain
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11
Q

ALL
What are the investigations for ALL?

A
  • FBC + blood film = pancytopenia, WCC up or down, circulating blast cells
  • Bone marrow aspiration to Dx - blast cells
  • CXR + CT to identify mediastinal mass and abdominal lymphadenopathy
  • LP to identify CNS involvement
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12
Q

ALL
What do blood and bone marrow tests show in ALL?

A

FBC and blood film = WCC usually high
Blast cells on film and in bone marrow

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13
Q

ALL
What are some good prognostic factors in ALL?

A
  • Age 2-10
  • Female
  • WCC <20
  • No CNS disease
  • Caucasian
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14
Q

ALL
What are some complications of ALL?

A
  • Psychological impact of childhood cancer
  • Fertility = offer to freeze eggs or sperm before Tx
  • CNS development, growth impact, delayed puberty, cardiac + renal toxicity
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15
Q

ALL
What is the supportive management for ALL?

A
  • Correct abnormalities with blood/platelet transfusion
  • Fluids for hydration
  • Allopurinol to protect kidneys from tumour lysis syndrome
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16
Q

ALL
What is the management for ALL?

A
  • Blood and platelet transfusion
  • Chemotherapy
  • Steroids
  • Allopurinol to prevent tumour lysis syndrome
  • Intrathecal drugs, e.g. methotrexate
  • Acute control of infections with IV antibiotics
  • Neutropenia makes this high risk
  • Stem cell transplant
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17
Q

ALL
Explain the precise management in…

i) remission induction
ii) consolidation + CNS protection
iii) interim maintenance
iv) intensification
v) continuing maintenance

A

i) Combo chemo often IV vincristine + dexamethasone
ii) IT chemo (methotrexate)
iii) Mod intensity chemo, co-trimoxazole prophylaxis for PCP
iv) Intensive chemo to consolidate remission
v) 2y for girls, 3y for boys as higher recurrence

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18
Q

ALL
What is the management for relapse or high risk patients?

A
  • Bone marrow transplantation
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19
Q

AML
What is acute myeloid leukaemia (AML)?

A

Neoplastic proliferation of blast cells (immature blood cells)
affects myeloid progenitor cells and myeloblasts

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20
Q

AML
What are the risk factors for AML?

A

Preceding haematological disorders
Prior chemotherapy
Exposure to ionising radiation
Down’s syndrome

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21
Q

AML
what are the clinical features of AML?

A

Anaemia -> breathlessness, fatigue, pallor
Infection
Hepatosplenomegaly
Peripheral lymphadenopathy
Gum hypertrophy
Bone marrow failure and bone pain

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22
Q

AML
Why are anaemia, infection and bleeding symptoms of leukaemia?

A

Because of bone marrow failure

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23
Q

AML
Why are hepatomegaly and splenomegaly symptoms of leukaemia?

A

Because of tissue infiltration

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24
Q

AML
What investigations do you do on someone who you suspect has AML?

A

FBC - anaemia, thrombocytopaenia, neutropoenia
Blood film - leukaemic blast cells
Bone marrow biopsy - Auer rods
Cytogenetic analysis and immuno-phenotyping

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25
Q

AML
What would you expect to see on an FBC and bone marrow biopsy in someone you suspect to have AML?

A

FBC = anaemia and thrombocytopenia and neutropenia

BM biopsy = leukaemic blast cells (with Auer rods)

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26
Q

AML
Describe the treatment for AML

A

Blood and platelet transfusions
IV fluids
Allopurinol to prevent tumour lysis
Infection control with IV antibiotics
Chemotherapy
Steroids
Sibling matched allogenic bone marrow transplant

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27
Q

CML
What is chronic myeloid leukaemia (CML)?

A

Uncontrolled clonal proliferation of myeloid cells (basophils, eosinophils and neutrophils)

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28
Q

CML
What chromosome is present in >80% of people with CML?

A

Philadelphia chromosome

forms a fusion gene BCR/ABL on chromosome 22 – has tyrosine kinase activity – simulate cell division

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29
Q

CML
what are the clinical features of CML?

A

Insidious onset

Symptomatic anaemia
Abdominal pain - splenomegaly
Weight loss, tiredness, palor
Gout - due to purine breakdown
Bleeding - due to platelet dysfunction

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30
Q

CML
what are the investigations for CML?

A

FBC - anaemia, raised myeloid cells, high WCC (eosinophilia, basophilia, neutrophilia)
Increased B12
Blood film - left shirt, basophilia
Bone marrow biopsy - increased cellularity
Philadelphia chromosome seen in 80+% of cases  t(9;2) - Stimulates cell division

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31
Q

CML
What is the treatment for CML?

A

Chemotherapy
Tyrosine kinase inhibitors, e.g. Imatinib - Given orally
Stem cell transplant

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32
Q

CML
Why does the Philadelphia chromosome cause CML?

A

FORMS fusion gene BCR/ABL on chromosome 22 –> tyrosine kinase activity –> stimulates cell division

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33
Q

CLL
What is Chronic lymphoblastic leukaemia (CLL)?

A

Proliferation of mature B lymphocytes leads to accumulation of mature B cells that have escaped apoptosis
Chronic malignant transformation of mature lymphoid cells

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34
Q

CLL
what are the investigations for CLL?

A

● Normal or low Hb
● Raised WCC with very high lymphocytes
● Blood film – smudge cells may be seen in vitro

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35
Q

CLL
What is the treatment for CLL?

A

Watch and wait
Chemotherapy
Monoclonal antibodies, e.g. rituximab
Targeted therapy, e.g. bruton kinase inhibitors (ibrutinib)

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36
Q

LYMPHOMA
What is lymphoma?

A
  • Malignancies of lymphocytes which accumulate in lymph nodes, may also infiltrate organs + divided histologically
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37
Q

LYMPHOMA
What are the types?

A
  • Hodgkin’s lymphoma (more common in adolescence)
  • Non-Hodgkin’s (more common in childhood)
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38
Q

LYMPHOMA
What causes lymphadenopathy?
What might make you think of malignancy?

A
  • Mostly self-limiting like viral URTI (cold, tonsillitis)
  • Can be HIV, autoimmune or malignancies
  • Enlarging node without infective cause, persistently enlarged, unusual site (supraclavicular), presence of B Sx or abnormal CXR
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39
Q

HODGKINS LYMPHOMA
What is the clinical presentation of Hodgkin’s lymphoma?

A

Fever and sweating
Enlarged rubbery non-tender nodes
Systemic ‘B’ symptoms, e.g. fever
Painful nodes on drinking alcohol
some patients (commonly young women) have disease localised to the mediastinum

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40
Q

HODGKINS LYMPHOMA
what is required for a diagnosis of hodgkin’s lymphoma?

A

Presence of Reed-Sternberg cells in lymph node biopsy

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41
Q

HODGKINS LYMPHOMA
What blood results may you see in someone with Hodgkin’s lymphoma?

A
  • high ESR
  • FBC = anaemia (normochromic normocytic)
  • reed sternberg cells
  • low Hb
  • high serum lactase dehydrogenase
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42
Q

HODGKINS LYMPHOMA
How is Hodgkin’s lymphoma staged?

A

Using the Ann Arbor system
- I = confined to single LN region
- II = ≥2 nodal areas on same side of diaphragm
- III = nodal areas on both sides of diaphragm
- IV = spread beyond LNs e.g. liver

  • Each staged subdivided to A if no systemic Sx or B if ‘B’ Sx
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43
Q

HODGKINS LYMPHOMA
What is the management of Hodgkin’s lymphoma?

A
  • Combination chemo ± radiotherapy (overall 80% cured)
  • ABVD
    • Adriamycin
    • Bleomycin
    • Vinblastine
    • Decarbazine
  • autologous marrow transplant
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44
Q

NON-HODGKINS LYMPHOMA
What is non-Hodgkin’s lymphoma?

A

Any lymphoma not involving Reed-Sternberg cells

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45
Q

NON-HODGKINS LYMPHOMA
What are the 3 broad presentations of Non-Hodgkin’s lymphoma?

A
  • T-cell malignancies
  • B-cell malignancies
  • Extra-nodal disease
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46
Q

NON-HODGKINS LYMPHOMA
How do T-cell malignancies present?

A
  • May present as ALL or non-Hodgkin lymphoma both being characterised by a mediastinal mass with bone marrow infiltration
  • Mediastinal mass may cause SVC obstruction
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47
Q

NON-HODGKINS LYMPHOMA
How do B-cell malignancies present?

A
  • Present as non-Hodgkin lymphoma with localised lymph node disease, usually in head + neck or abdomen
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48
Q

NON-HODGKINS LYMPHOMA
How does extra-nodal disease present?

A
  • Often GI > pain from obstruction, a palpable mass or even intussusception
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49
Q

NON-HODGKINS LYMPHOMA
What are the signs and symptoms of non-hodgkins lymphoma?

A

Fever and sweating
Enlarged rubbery non-tender nodes
Systemic ‘B’ symptoms, e.g. fever
GI and skin involvement

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50
Q

NON-HODGKINS LYMPHOMA
What is the management of Non-Hodgkin’s lymphoma?

A

Steroids

R-CHOP
- Monoclonal antibodies to CD20 -> Rituximab
- CHOP regimen:
- Cyclophosphamide
- Hydroxy-daunorubicin
- Vincristine
- Prednisolone

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51
Q

BRAIN TUMOURS
What is the site of brain tumours?

A
  • Almost always primary (unlike adults)
  • 60% are infratentorial
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52
Q

BRAIN TUMOURS
What are the different types of brain tumours?

A
  • Astrocytoma (#1) varies from benign to glioblastoma multiforme
  • Medulloblastoma arises in the midline of posterior fossa, may have spinal mets
  • Ependymoma mostly in posterior fossa where it behaves as medulloblastoma
  • Brainstem glioma
  • Craniopharyngioma
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53
Q

BRAIN TUMOURS
What is a craniopharyngioma?
How does it present?

A
  • Developmental tumour arising from squamous remnant of Rathke pouch
  • Not truly malignant but locally invasive (bitemporal hemianopia often lower quadrant as superior chiasmal compression)
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54
Q

BRAIN TUMOURS
What is the clinical presentation of brain tumours?

A
  • Evidence of raised ICP
  • Focal neurology dependant on where the lesion is
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55
Q

BRAIN TUMOURS
What are some signs of raised ICP?

A
  • Headache worse in morning
  • Papilloedema
  • Vomiting, esp. in the morning
  • Behaviour or personality change
  • Visual disturbance (squint secondary to 6th nerve palsy, nystagmus)
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56
Q

BRAIN TUMOURS
What are some focal neurological signs?

A
  • Spinal tumours = back pain, peripheral weakness of arms/legs or bladder + bowel dysfunction depending on level of lesion
  • Ataxia, seizures
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57
Q

BRAIN TUMOURS
What is the best investigation for brain tumours?

A
  • MRI for visualisation
  • Avoid LP if raised ICP
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58
Q

BRAIN TUMOURS
What are some complications of brain tumours?

A
  • Outcome depends on location, how much is cleared + how much healthy brain tissue removed
  • Survivors face neuro disability, growth + endocrine problems, neuropsychological issues
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59
Q

BRAIN TUMOURS
What is the management of brain tumours?

A
  • 1st line = surgical resection + ventriculoperitoneal shunt to reduce risk of coning + treat hydrocephalus
  • Chemo (fewer options as less drugs cross BBB) or radiotherapy
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60
Q

NEUROBLASTOMA
What is a neuroblastoma? Epidemiology?

A
  • Arise from neural crest tissue in the adrenal medulla + sympathetic nervous system,
  • most common <5y,
  • NOT brain tumour
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61
Q

NEUROBLASTOMA
Where is it located?

A

Mass anywhere along sympathetic chain so could lead to spinal cord compression

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62
Q

NEUROBLASTOMA
Why are neuroblastomas biologically unusual?
What types of neuroblastomas are there?

A
  • Spontaneous regression sometimes occur in v young infants
  • Spectrum from benign (ganglioneuroma) to highly malignant neuroblastoma
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63
Q

NEUROBLASTOMA
What is the clinical presentation of neuroblastoma?

A
  • Abdominal mass
  • Sx of metastatic = weight loss, hepatomegaly, pallor, bone pain + limp
  • Uncommon = paraplegia, cervical lymphadenopathy, proptosis, periorbital bruising, skin nodules
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64
Q

NEUROBLASTOMA
How does the abdominal mass present?

A
  • Often crosses midline + envelopes major vessels + lymph nodes
  • Can grow very large
  • Classically abdo primary is of adrenal origin
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65
Q

NEUROBLASTOMA
What are the investigations for neuroblastoma?

A
  • Raised urinary catecholamine levels
  • CT/MRI + confirmatory biopsy
  • Evidence of metastatic disease = bone marrow sampling, MIBG scan ±bone scan
66
Q

NEUROBLASTOMA
What is the management of neuroblastoma?

A
  • Localised primaries + no mets can often be cured with surgery
  • Metastatic = chemo, autologous stem cell rescue, surgery + radio
  • Immunotherapy may be used for long-term maintenance
67
Q

WILM’S TUMOUR
What is a Wilm’s tumour?
Epidemiology?
Risk factor?

A
  • Nephroblastoma that originates from embryonal renal tissue, cure rate 80%
  • > 80% present before age 5, rare after 10y
  • FHx = Wilm’s tumour susceptibility gene
68
Q

WILM’S TUMOUR
What is the clinical presentation of a Wilm’s tumour?

A
  • Large abdominal mass found incidentally in an otherwise well child
  • May have flank pain, anorexia, anaemia, painless haematuria + HTN
69
Q

WILM’S TUMOUR
What are the investigations for Wilm’s tumour?

A
  • USS ± CT/MRI showing intrinsic renal mass distorting the normal structure
  • Mass with characteristic mixed tissue densities (cystic + solid)
  • Staging for distant mets (often lung), biopsy for histology Dx
70
Q

WILM’S TUMOUR
What is the management of a Wilm’s tumour?

A
  • Initial chemo followed by delayed nephrectomy (full if 1 kidney, partial if bilateral but RARE)
  • Radiotherapy for more advanced disease
71
Q

BONE TUMOURS
What are bone tumours?
When do they occur?

A
  • Osteogenic sarcoma more common than Ewing sarcoma but Ewing seen more in younger children
  • Both have male predominance
  • Uncommon before puberty
72
Q

BONE TUMOURS
What is the clinical presentation of bone tumours?

A
  • Limbs most common site (particularly femur, tibia + humerus)
  • Persistent localised bone pain often precedes mass, otherwise well
  • May be worse at night + cause disrupted sleep
73
Q

BONE TUMOURS
What are some investigations for bone tumours?

A
  • Raised ALP on bloods
  • Plain XR followed by MRI + bone scan, ?PET scan + bone biopsy
  • CT chest for lung mets + bone marrow sampling to exclude involvement
74
Q

BONE TUMOURS
How might bone tumours present on radiographs?

A
  • XR = destruction + variable periosteal new bone formation
  • Periosteal reaction leads to classic “sunburst” appearance
  • Ewing sarcoma often shows substantial soft tissue mass
75
Q

BONE TUMOURS
What is the management for bone tumours?

A
  • Combo chemo before surgery (amputation avoided if possible)
  • Radio used in Ewing sarcoma for local disease, esp. if surgical resection is impossible or incomplete (e.g. pelvis or axial skeleton)
76
Q

RETINOBLASTOMA
What is a retinoblastoma?

A
  • Malignant tumour of retinal cells which can lead to severe visual impairment
77
Q

RETINOBLASTOMA
What is a genetic cause of retinoblastoma?
How might it present?

A
  • Retinoblastoma susceptibility gene on chromosome 13 = AD but incomplete penetrance > offer genetic screening
  • All bilateral tumours are hereditary, 20% of unilateral are
78
Q

RETINOBLASTOMA
What is the clinical presentation of retinoblastoma?

A
  • White pupillary reflex noted to replace the normal red reflex or a squint
  • May have decreased visual acuity + nystagmus
  • Most present within 3y
79
Q

RETINOBLASTOMA
What are the investigations for retinoblastoma?

A
  • Screened for in NIPE
  • MRI + Examination under anaesthetic
  • Biopsy is avoided + treatment based on ophthalmological findings
80
Q

RETINOBLASTOMA
What are some complications of retinoblastoma?

A
  • Significant risk of second malignancy (especially sarcoma) amongst survivors of hereditary retinoblastoma
81
Q

RETINOBLASTOMA
What is the management aims for retinoblastoma?
What is the management?

A
  • Cure cancer + preserve vision
  • Chemo, particularly if bilateral to shrink tumours > local laser treatment to retina
  • Radiotherapy or enucleation of eye (removal) if advanced
  • Most cured but many visually impaired
82
Q

LIVER TUMOURS
What are liver tumours?
In neonates?

A
  • Mostly hepatoblastoma or hepatocellular carcinoma
  • Primary liver tumours in neonates = haemangioma
83
Q

LIVER TUMOURS
What is the clinical presentation of liver tumours?

A
  • Abdominal distension or mass are common
  • Pain + jaundice rare
84
Q

LIVER TUMOURS
What are the investigations for liver tumours?

A
  • Elevated serum alpha fetoprotein in nearly all cases
  • USS/CT/MRI to visualise the tumour + extent of disease
85
Q

LIVER TUMOURS
What is the management of liver tumours?

A
  • Chemo, surgery or liver transplant if inoperable
  • Majority of hepatoblastoma can be cured but prognosis worse for hepatocellular
86
Q

FANCONI SYNDROME
What is fanconi syndrome?

A
  • Generalised reabsorptive disorder of renal tubular transport in the PCT resulting in…
    – Type 2 (proximal) renal tubular acidosis
    – Polydipsia, polyuria, aminoaciduria + glycosuria
    – Osteomalacia/rickets
87
Q

FANCONI SYNDROME
What are some causes of fanconi syndrome?

A
  • Usually secondary to inborn errors of metabolism
    – Cystinosis (AR > intracellular accumulation of cysteine, most common)
    – Wilson’s disease, galactosaemia, glycogen storage disorders
88
Q

FOETAL HAEMOGLOBIN
What is haemoglobin?
What is the structural difference between foetal and adult haemoglobin?

A
  • Responsible for transporting oxygen around the body in RBCs
  • HbF = 2 alpha + 2 gamma subunits
  • HbA = 2 alpha + 2 beta subunits
89
Q

FOETAL HAEMOGLOBIN
What is the main difference between HbF + HbA?

A
  • HbF has greater affinity to oxygen than adult so oxygen binds more easily + is more reluctant to let go = crucial for oxygen to transport from maternal to foetal Hb
90
Q

FOETAL HAEMOGLOBIN
When does HbF production reduce?

A

HbF production decreases from 32w with HbA + HbA2 production increasing

91
Q

FOETAL HAEMOGLOBIN
When is Hb concentration highest?
When does the shift from HbF to HbA occur?

A
  • At birth to compensate for low oxygen concentration in the foetus
  • By 6m of age very little HbF produced so HbA predominates
92
Q

ANAEMIA OVERVIEW
What is anaemia?
How is it defined in paeds?

A
  • Hb level below the normal range
  • Neonate = <14g/dL
  • 1–12m = <10g/dL
  • 1–12y = <11g/dL
93
Q

ANAEMIA OVERVIEW
What are the 3 main mechanisms of anaemia?

A
  • Increased red cell production
  • Increased red cell destruction (haemolysis)
  • Blood loss (uncommon in paeds like Meckel’s, vWD, foetomaternal bleeding)
94
Q

ANAEMIA OVERVIEW
What are some causes of decreased red cell production?
What are some clues?

A
  • Ineffective erythropoiesis (Fe, folate deficiency, CKD)
  • Red cell aplasia
  • Normal reticulocytes, abnormal MCV in nutrient deficiencies
95
Q

ANAEMIA OVERVIEW
What are some causes of haemolysis?
What are some clues?

A
  • G6PD deficiency, haemoglobinopathies, hereditary spherocytosis
  • Raised reticulocytes, abnormal appearance on blood films, +ve direct antiglobulin test if immune cause
96
Q

ANAEMIA OVERVIEW
What is haemolytic anaemia?
What is the normal lifespan of RBC?

A
  • Characterised by reduced red cell lifespan due to increased red cell destruction in the circulation (intravascular haemolysis) or liver/spleen (extravascular)
  • 120d
97
Q

ANAEMIA OVERVIEW
How does haemolysis cause anaemia?
What is the difference in haemolytic anaemias in neonates + children?

A
  • Red cell survival reduced significantly but bone marrow production increases too, anaemia = bone marrow cannot compensate
  • Neonates = immune haemolytic anaemias, children = instrinsic abnormalities (G6PD)
98
Q

ANAEMIA OVERVIEW
List 4 features of haemolytic anaemias

A
  • Anaemia
  • Hepatosplenomegaly
  • Unconjugated bilirubinaemia
  • Excess urinary urobilinogen
99
Q

ANAEMIA OVERVIEW
What are some causes of anaemia in the neonate?

A
  • Reduced RBC production = congenital red cell aplasia + congenital parvovirus infection > red cell aplasia
  • Haemolytic anaemia = immune (haemolytic disease of newborn) or hereditary (G6PD etc)
100
Q

ANAEMIA OVERVIEW
What are the main causes of anaemia of prematurity?

A
  • Inadequate erythropoietin production
  • Reduced red cell lifespan
  • Frequent blood sampling whilst in hospital
  • Iron + folic acid deficiency after 2-3m.
101
Q

IRON DEF ANAEMIA
What is iron deficiency anaemia?
Why does it cause anaemia?
Iron physiology?

A
  • # 1 cause of childhood anaemia
  • Bone marrow requires iron to produce Hb
  • Iron mainly absorbed in the duodenum + jejunum + requires acid from the stomach to keep iron in soluble ferrous (Fe2+) form, if acid drops it changes to insoluble ferric (Fe3+) form
102
Q

IRON DEF ANAEMIA
What are some causes of iron deficiency anaemia?

A
  • Inadequate intake = common as infants require additional iron for increasing blood volume
  • Malabsorption = Crohn’s + coeliac
  • Blood loss = common in menstruating females
103
Q

IRON DEF ANAEMIA
What are some sources of iron?
What can affect iron absorption?

A
  • Breast milk, formula, cow’s milk or weaning (cereals)
  • Markedly increased when eaten with food rich in vitamin C + inhibited by tannin in tea
104
Q

IRON DEF ANAEMIA
What are the symptoms of iron deficiency anaemia?

A
  • Generic = fatigue, SOB, headaches, dizziness, palpitations
  • Young infants feed more slowly + children tire easily
105
Q

IRON DEF ANAEMIA
What are some signs of iron deficiency anaemia?

A
  • Generic = pallor (inc. conjunctival), tachycardia, tachypnoea
  • Pica = consumption of non-food materials
  • Koilonychia, angular cheilitis, brittle hair + nails
106
Q

IRON DEF ANAEMIA
What are some investigations for iron deficiency anaemia and what would you see?

A
  • FBC = low Hb, microcytic (low MCV + MCH), normal reticulocytes
  • Blood film = hypochromic microcytic red cells
  • Iron studies:
    – Low = serum ferritin, iron + transferrin saturation
    – High = total iron binding capacity
107
Q

IRON DEF ANAEMIA
What is…

i) transferrin saturation?
ii) total iron binding capacity?

A

i) Proportion of transferrin bound to iron
ii) Total space on transferrin for Fe to bind

108
Q

IRON DEF ANAEMIA
What is the management of iron deficiency anaemia?

A
  • Diet = eat red meat (beef, lamb), oily fish, green veg (broccoli, spinach), dried fruit (raisins)
  • Children may be given polysaccharide iron complex (Niferex)
  • Ferrous sulfate or fumarate often used
109
Q

IRON DEF ANAEMIA
What are some side effects of treatment with oral iron supplementation?

A
  • Constipation
  • Black coloured stools
  • Nausea
110
Q

SICKLE CELL DISEASE
What is the pathophysiology of sickle cell disease?
How does it arise?

A
  • Abnormal variant (haemoglobin S) which polymerises to be an abnormal sickle (crescent) shape + so more fragile + easily destroyed > haemolytic anaemia
  • Amino acid substitution (glutamine > valine)
111
Q

SICKLE CELL DISEASE
What issues can sickled red cells cause?
What can exacerbate this?

A
  • Reduced lifespan so can get trapped in small vessels leading to vaso-occlusion > ischaemia
  • Can be exacerbated by dehydration, cold, stress, infections + hypoxia, associated with raised haematocrit
112
Q

SICKLE CELL DISEASE
What is the genetics behind sickle cell disease?

A
  • Autosomal recessive
  • Abnormal gene for beta-globin on C11
  • Heterozygous = sickle-cell trait
  • Homozygous = sickle cell disease (HbSS)
113
Q

SICKLE CELL DISEASE
What is the epidemiology of sickle cell disease?
How could this be advantageous?

A
  • More common in Africa, India + the Middle East (areas traditionally affected by malaria)
  • Sickle-cell trait reduces the severity of malaria making them more likely to survive + pass the genes on
114
Q

SICKLE CELL DISEASE
When does sickle cell disease present?
What do all sickle cell disease patients have?

A
  • 6m as HbF unaffected so manifests as HbF reduces
  • All have moderate anaemia with detectable jaundice from chronic haemolysis
  • All have marked increase in infection susceptibility, esp. pneumococci + H. influenzae due to hyposplenism secondary to chronic sickling + microinfarction of the spleen
115
Q

SICKLE CELL DISEASE
What is a severe, classic feature of sickle cell disease?
Common location?
Presentation?
Most severe?

A
  • Vaso-occlusive (painful) crises
  • Bones of limbs + spine common (may lead to avascular necrosis e.g. femoral heads)
  • Pain, fever + often those of triggering infection
  • Acute chest syndrome
116
Q

SICKLE CELL DISEASE
What is acute chest syndrome?
What can cause it?
Management?

A
  • Fever or resp Sx (CP, tachypnoea) with new infiltrates on CXR
  • Can be due to infection (pneumonia, bronchiolitis) or non-infective (pulmonary vaso-occlusion or fat emboli)
  • Emergency > Abx or antivirals, blood transfusions for anaemia, may need NIV or intubation
117
Q

SICKLE CELL DISEASE
Name 2 other vaso-occlusive crises

A
  • ‘Hand-foot syndrome’ common leading to dactylitis
  • Priapism in men > urological emergency, aspiration
118
Q

SICKLE CELL DISEASE
Sickle cell disease may present with acute anaemia (sudden drop in Hb).
What can cause this?

A
  • Haemolytic crises (sometimes with associated infection)
  • Aplastic crises (parvovirus causes cessation of RBC production)
  • Sequestration crises
119
Q

SICKLE CELL DISEASE
What is a sequestration crisis?
What is the management?

A
  • Sudden hepatic or splenic enlargement, abdo pain + circulatory collapse from accumulation of sickled cells blocking blood flow
  • Supportive = blood transfusions, fluid resus, splenectomy can prevent this + used in recurrent crises as can lead to splenic infarction > increased infection susceptibility
120
Q

SICKLE CELL DISEASE
What are some investigations for sickle cell disease?

A
  • Prenatal Dx via CVS
  • Detection via Guthrie test
  • FBC = low Hb, high reticulocytes
  • Blood film = sickled RBCs
  • Dx with Hb electrophoresis showing high amounts of HbSS + absent HbA
121
Q

SICKLE CELL DISEASE
What are some complications of sickle cell disease?

A
  • Short stature + delayed puberty
  • Stroke + cognitive issues
  • Pulmonary HTN
  • Chronic renal failure
  • Psychosocial issues
122
Q

SICKLE CELL DISEASE
What is the general management for sickle cell disease?

A
  • Fully immunised (PCV, HiB, meningococcus)
  • Avoid vaso-occlusive crisis triggers
  • PO phenoxymethylpenicillin prophylaxis
  • PO folic acid as increased demands due to haemolysis
  • Hydroxycarbamide + hydroxyurea can stimulate HbF production to prevent painful crises
  • Bone marrow transplant curative + offered if failed response
123
Q

SICKLE CELL DISEASE
What are some potential triggers of vaso-occlusive crises?
How might these be prevented?

A
  • Cold, dehydration, excessive exercise, stress + hypoxia
  • Dress warmly, plenty of drinks
124
Q

SICKLE CELL DISEASE
What is the management of an acute crisis?

A
  • PO or IV analgesia according to need (?opiates)
  • IV fluids, oxygen
  • Infection treated with Abx, blood transfusion for severe anaemia
  • Exchange transfusion if severe (e.g. neuro complications)
125
Q

THALASSAEMIA
What is thalassaemia?
Consequence?
What are the 2 types?

A
  • AR disorder arising from ≥1 gene defects, resulting in a reduced rate of production of ≥1 globin chains
  • RBCs more fragile + breakdown easily
  • Alpha = defect in alpha globin chains
  • Beta = defect in beta globin chains
126
Q

THALASSAEMIA
What happens if there is deletion of 1 or 2 alpha globin chains?

A
  • Alpha thalassaemia trait
  • Often asymptomatic with mild or absent anaemia
  • Red cells hypochromic + microcytic
127
Q

THALASSAEMIA
What happens if there is deletion of 3 alpha globin chains?

A
  • Mild-moderate hypochromic microcytic anaemia + splenomegaly
  • Few patients are transfusion dependent
128
Q

THALASSAEMIA
What happens if there is deletion of all 4 alpha globin chains?

A
  • Alpha thalassaemia major
  • Death in utero with foetal hydrops from foetal anaemia
  • Occurs in families of South-East Asian origin, homozygotes
129
Q

THALASSAEMIA
What is the epidemiology of beta thalassaemia?
What are the three types?

A
  • Indian subcontinent, Mediterranean + Middle East
  • Beta thalassaemia minor (1 abnormal + 1 normal gene)
  • Beta thalassaemia intermedia (2 defective or 1 defective + 1 deletion genes)
  • Beta thalassaemia major (homozygous for deletion genes)
130
Q

THALASSAEMIA
What is beta thalassaemia minor?
How does it present?
Differentiate?

A
  • Carriers of abnormally functioning beta-globin gene
  • Mild microcytic + hypochromic anaemia (monitor)
  • Differentiate from Fe deficiency by measuring serum ferritin (normal)
131
Q

THALASSAEMIA
What is beta thalassaemia intermedia?
Management?

A
  • More severe microcytic anaemia, beta-globin mutation allow a small amount of HbA and/or a large amount of HbF to be produced
  • Monitor + occasional blood transfusion
132
Q

THALASSAEMIA
What is beta thalassaemia major?
How does it present?

A
  • Most severe form with no HbA as abnormal beta globin gene
    • Severe transfusion-dependent anaemia from 3-6m, jaundice, failure to thrive
133
Q

THALASSAEMIA
What is a complication of beta-thalassaemia major which isn’t common in developed countries?

A
  • Extramedullary haematopoiesis can occur if no regular blood transfusions
  • Leads to hepatosplenomegaly + bone marrow expansion leading to maxillary overgrowth + skull bossing
134
Q

THALASSAEMIA
What are some investigations for beta thalassaemia?

A
  • FBC + blood film = hypochromic microcytic anaemia
  • HbA2 raised in beta-thalassaemia trait, HbA2 + HbF raised in major
  • Serum ferritin to differ between Fe anaemia + check iron overload
  • Hb electrophoresis for Dx
  • DNA testing via CVS before birth
135
Q

THALASSAEMIA
What is the main complication of thalassaemia?
How might this present?

A
  • Repeated + Regular blood transfusions can cause chronic iron overload
  • Heart (cardiomyopathy, heart failure)
  • Liver (cirrhosis)
  • Pancreas (diabetes)
  • Pituitary (delayed growth + sexual maturation)
  • Skin (hyperpigmentation)
  • Arthritis + joint pain
136
Q

THALASSAEMIA
What is the management of thalassaemia?

A
  • Lifelong monthly blood transfusions for the most severe cases
  • Desferrioxamine for iron chelation to prevent overload
  • Bone marrow transplant can be curative, reserved for beta thalassaemia major
137
Q

HAEMOPHILIA
What are the 2 types of haemophilia?
What causes it?

A
  • Haemophilia A = factor VIII deficiency
  • Haemophilia B = factor IX deficiency
  • X-linked recessive (M>F), A>B, girls with Turner’s increased risk as 1 X
138
Q

HAEMOPHILIA
How might haemophilia present?

A
  • Neonates = intracranial haemorrhage, haematomas + cord bleeding
  • Recurrent spontaneous bleeds, often large, into joints (haemoarthrosis) + muscles (cause arthropathy if not prevented)
  • Easy bruising, haematomas, mouth/gum bleeding, haematuria
139
Q

HAEMOPHILIA
When does haemophilia typically present?
Important differential?

A
  • Around 1y as children become more mobile
  • NAI
140
Q

HAEMOPHILIA
What are some investigations for haemophilia?

A
  • FBC + blood film
  • Prothrombin time (factors 2, 5, 7, 10, extrinsic) normal
  • Activated partial thromboplastin time (intrinsic) = greatly increased
  • Severity dependent on amount of FVIII:C or FIX:C levels
  • Prenatal Dx with CVS
141
Q

HAEMOPHILIA
What is the management of haemophilia?

A
  • IV infusion of recombinant FVIII or FIX concentrate if active bleeding (or prophylactic to reduce arthropathy risk)
  • Desmopressin stimulates vWF release for bleeding/prevention, TXA
  • AVOID aspirin, NSAIDs + IM injections (can worsen bleeding)
142
Q

HAEMOPHILIA
What is a complication of the treatment for haemophilia?

A
  • Formation of antibodies against the clotting factor can render it ineffective
143
Q

VON WILLEBRAND DISEASE
What is the physiological role of von Willebrand factor?

A
  • Facilitates platelet adhesion to damaged endothelium
  • Acts as carrier protein for FVIII:C, protecting it from inactivation + clearance
144
Q

VON WILLEBRAND DISEASE
What is von Willebrand disease (vWD)?
What causes it?
Types?

A
  • Deficiency of vWF leading to defective platelet plug formation + deficient FVIII:C > most common inherited bleeding disorder
  • AD, type 1 most common + mildest
  • Severity increases with type 2, type 3 has very low or no vWF (AR)
145
Q

VON WILLEBRAND DISEASE
What is the clinical presentation of vWD?

A
  • Bruising, excessive + prolonged bleeding after surgery, mucosal bleeding (epistaxis, menorrhagia, bleeding gums)
  • In contrast to haemophilia = spontaneous soft tissue bleeding like large haematomas uncommon
146
Q

VON WILLEBRAND DISEASE
What are some investigations for vWD?

A
  • FBC (normal platelets) + blood film, biochemical screen including renal + liver function
  • Prolonged bleeding time
  • Prothrombin time normal
  • APTT = elevated or normal
  • vWF antigen decreased, vWF multimers variable
147
Q

VON WILLEBRAND DISEASE
What is the management of vWD?

A
  • Pressure applied if active bleeding
  • Minimise bleeding with desmopressin or TXA
  • Severe = plasma derived FVIII concentrate or vWF infusion
  • AVOID aspirin, NSAIDs + IM injections as can worsen bleeding
148
Q

VON WILLEBRAND DISEASE
How is desmopressin given?
What does it do?

A
  • Nasal or s/c
  • Release of vWF + FVIII concentrate
149
Q

COAGULATION DISORDERS
What are acquired disorders of coagulation?

A

Secondary to

  • Haemorrhagic disease of the newborn due to vitamin K deficiency
  • Liver disease as location of clotting factor production
  • ITP + DIC
150
Q

COAGULATION DISORDERS
What is vitamin K essential for?
What does deficiency result in?
How can this be prevented?

A
  • Essential for factors 2, 7, 9 + 10 (1972) production + naturally occurring anticoagulants like protein C + S
  • Prolonged prothrombin time so increased bleeding
  • All neonates get vitamin K IM to facilitate coagulation
151
Q

COAGULATION DISORDERS
What can cause vitamin K deficiency?

A
  • Inadequate intake = neonates, long-term chronic illness
  • Malabsorption = coeliac, cystic fibrosis
  • Vitamin K antagonists = warfarin
152
Q

ITP
What is immune thrombocytopenic purpura (ITP)?

A
  • Commonest cause of thrombocytopenia in childhood
  • T2 hypersensitivity reaction with destruction of circulating platelets by anti-platelet IgGs
153
Q

ITP
What is the clinical presentation of ITP?

A
  • 1-2w post viral
  • Petechiae or purpuric rash (petechiae are pin-prick, purpura are larger)
  • Can cause epistaxis, other mucosal bleeding + bruising
154
Q

ITP
What are the investigations for ITP?

A
  • FBC shows marked thrombocytopenia
  • May have compensatory megakaryocyte increase in bone marrow
155
Q

ITP
What is the management of ITP?

A
  • Often acute + self-limiting
  • Severe bleeding may need prednisolone, IVIg, blood/platelet transfusions
156
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the pathophysiology?

A
  • rhesus positive father and negative mother have a rhesus positive baby
  • mother + baby have incompatible antigens which induces primary immune response
  • problems tend to occur in subsequent pregnancies + results in destruction of foetal haemoglobin
157
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the clinical presentation?

A
  • anti-D antibodies in mother detected by Coombe’s test that all women have at 1st antenatal appointment
  • routine USS may detect hydrops fetalis or polyhydramnios
  • mild cases = jaundice, pallor + hepatosplenomegaly, hypoglycaemia
  • severe cases = oedema, petechiae + ascites
158
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what are the investigations?

A
  • indirect coombe’s test show antibodies
  • antenatal USS shows hydrops fetalis
  • fetal blood sample
159
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management in utero?

A
  • transfusion of O negative packed cells cross-matched with maternal blood at 16-18 weeks
160
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management after delivery?

A

50% = normal haemoglobin + bilirubin but should be monitored for anaemia for 6-8 weeks
25% = require transfusion + may require phototherapy to avoid kernicterus
25% = stillborn or have hydrops fetalis

161
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what are the complications?

A
  • kernicterus which can cause extrapyramidal, auditory and visual abnormalities and cognitive deficit
  • late-onset anaemia
  • graft-versus-host disease
  • portal vein thrombosis + portal hypertension
162
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
how can it be prevented?

A

identify all women who have been sensitised by coombe’s testing at first antenatal visit

anti-D immunoglobulin should be given to all rhesus negative women at 28 + 34 weeks

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