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Haematology Flashcards

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1
Q

What is Tumour Lysis Syndrome?

A

A condition resulting from chemicals released when cells are destroyed by chemotherapy.

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2
Q

What are the key metabolic abnormalities associated with Tumour Lysis Syndrome?

A
  • High uric acid
  • High potassium (hyperkalaemia)
  • High phosphate
  • Low calcium
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3
Q

What complications can arise from high uric acid in Tumour Lysis Syndrome?

A

Formation of crystals in the interstitial space and tubules of the kidneys, causing acute kidney injury.

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4
Q

What can hyperkalaemia lead to in patients with Tumour Lysis Syndrome?

A

Cardiac arrhythmias.

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5
Q

What role do cytokines play in Tumour Lysis Syndrome?

A

They can cause systemic inflammation.

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6
Q

What preventive measure is required for patients at risk of Tumour Lysis Syndrome before chemotherapy?

A

Very good hydration and urine output.

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7
Q

Which medications may be used to suppress uric acid levels in Tumour Lysis Syndrome?

A
  • Allopurinol
  • Rasburicase
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8
Q

Fill in the blank: Tumour Lysis Syndrome results in high _______ levels.

A

uric acid

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9
Q

True or False: Low calcium levels result from high phosphate levels in Tumour Lysis Syndrome.

A

True

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10
Q

Acute lymphoblastic leukaemia (ALL) epidemiology

A

Children under 5

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11
Q

What condition is ALL is associated with?

A

ALL is associated with Down syndrome.

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12
Q

What are the three phases of Chronic Myeloid Leukaemia (CML)?

A
  • Chronic phase
  • Accelerated phase
  • Blast phase
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13
Q

What is pancytopenia?

A

A combination of low red blood cells (anaemia), white blood cells (leukopenia), and platelets (thrombocytopenia).

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14
Q

What is the initial investigation recommended for suspected leukaemia?

A

Full blood count.

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15
Q

What type of white blood cell proliferation occurs in Acute Lymphoblastic Leukaemia (ALL)?

A

Acute proliferation of a single type of lymphocyte, usually B-lymphocytes.

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16
Q

What is the role of a bone marrow biopsy in leukaemia diagnosis?

A

To analyze the cells in the bone marrow to establish a definitive diagnosis.

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17
Q

What characterizes Chronic Lymphocytic Leukaemia (CLL)?

A

Slow proliferation of a single type of well-differentiated lymphocyte, usually B-lymphocytes.

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18
Q

What are smudge cells?

A

Ruptured white blood cells that occur while preparing the blood film, particularly associated with CLL.

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19
Q

What abnormal chromosome is associated with Chronic Myeloid Leukaemia (CML)?

A

Philadelphia chromosome.

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20
Q

What is the significance of the BCR-ABL1 gene in CML?

A

It codes for an abnormal tyrosine kinase enzyme that drives the proliferation of abnormal cells.

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21
Q

What are the common presenting features of leukaemia?

A
  • Fatigue
  • Fever
  • Pallor
  • Petechiae or bruising
  • Abnormal bleeding
  • Lymphadenopathy
  • Hepatosplenomegaly
  • Failure to thrive (children)
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22
Q

What are the differential diagnoses for petechiae?

A
  • Leukaemia
  • Meningococcal septicaemia
  • Vasculitis
  • Henoch-Schönlein purpura
  • Immune thrombocytopenic purpura
  • Thrombotic thrombocytopenic purpura
  • Traumatic or mechanical
  • Non-accidental injury
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23
Q

What are some complications of chemotherapy?

A
  • Failure to treat cancer
  • Stunted growth in children
  • Infections due to immunosuppression
  • Neurotoxicity
  • Infertility
  • Secondary malignancy
  • Cardiotoxicity
  • Tumour lysis syndrome
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24
Q

Fill in the blank: CML is particularly associated with the _______.

A

Philadelphia chromosome

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25
What is the common treatment for leukaemia?
Chemotherapy and targeted therapies.
26
What are examples of targeted therapies used in CLL?
* Tyrosine kinase inhibitors (e.g., ibrutinib) * Monoclonal antibodies (e.g., rituximab)
27
What does a blood film help identify in leukaemia patients?
Abnormal cells and inclusions.
28
What is the purpose of genetic tests in leukaemia?
To guide treatment and prognosis.
29
What is the typical age group affected by Chronic Lymphocytic Leukaemia (CLL)?
Adults over 60 years of age.
30
What is acute myeloid leukaemia (AML) associated with on blood film?
Auer rods in the cytoplasm of blast cells.
31
What is Hodgkin's lymphoma (HL)?
A malignant proliferation of lymphocytes characterised by the presence of the Reed-Sternberg cell
32
What are the two peak age distributions for Hodgkin's lymphoma?
Third and seventh decades
33
Name two risk factors for Hodgkin's lymphoma.
* HIV * Epstein-Barr virus
34
What is the most common feature of Hodgkin's lymphoma?
Lymphadenopathy (75%)
35
Which lymph node regions are most commonly affected in Hodgkin's lymphoma?
* Cervical/supraclavicular * Axillary * Inguinal
36
Describe the nature of lymphadenopathy in Hodgkin's lymphoma.
Usually painless, non-tender, asymmetrical
37
What is a characteristic symptom related to alcohol consumption in Hodgkin's lymphoma?
Alcohol-induced lymph node pain
38
What percentage of Hodgkin's lymphoma patients experience alcohol-induced lymph node pain?
Less than 10%
39
What are 'B symptoms' associated with Hodgkin's lymphoma?
* Weight loss * Pruritus * Night sweats * Fever (Pel-Ebstein)
40
What other possible presentations can occur in Hodgkin's lymphoma?
Mediastinal mass
41
What is the common finding in blood investigations for Hodgkin's lymphoma?
Normocytic anaemia
42
What might cause normocytic anaemia in Hodgkin's lymphoma?
* Hypersplenism * Bone marrow replacement by HL * Coombs-positive haemolytic anaemia
43
What is the role of eosinophilia in Hodgkin's lymphoma?
Caused by the production of cytokines (e.g., IL-5)
44
What laboratory marker is often raised in Hodgkin's lymphoma?
LDH (lactate dehydrogenase)
45
What is the diagnostic test for Hodgkin's lymphoma?
Lymph node biopsy
46
What are Reed-Sternberg cells?
Associated with Hodgkin's lymphoma Large cells that are either multinucleated or have a bilobed nucleus with prominent eosinophilic inclusion-like nucleoli
47
What distinctive appearance do Reed-Sternberg cells have?
'Owl's eye' appearance
48
What are the blood film findings for multiple myeloma?
rouleaux formations
49
What are the blood film findings for myelofybrosis?
tear drop pokilocytes on blood film
50
What is immune thrombocytopenic purpura (ITP)?
An immune-mediated reduction in the platelet count ## Footnote ITP is characterized by antibodies directed against glycoprotein IIb/IIIa or Ib-V-IX complex.
51
What type of hypersensitivity reaction is ITP an example of?
Type II hypersensitivity reaction
52
How does ITP typically present in children compared to adults?
ITP in children is typically more acute and may follow an infection or vaccination
53
List common features of ITP.
* Bruising * Petechial or purpuric rash * Bleeding (less common, typically epistaxis or gingival bleeding)
54
What investigations are used to diagnose ITP?
* Full blood count * Blood film * Bone marrow examination (if atypical features are present)
55
What does a full blood count in ITP typically demonstrate?
An isolated thrombocytopenia
56
What atypical features may indicate the need for a bone marrow examination in ITP?
* Lymph node enlargement * Splenomegaly * High/low white cells * Failure to resolve/respond to treatment
57
What is the typical management approach for ITP?
Usually, no treatment is required
58
What percentage of children with ITP resolve within 6 months?
Around 80%
59
What advice is given to patients with ITP regarding activities?
Avoid activities that may result in trauma (e.g., team sports)
60
What management options may be indicated if the platelet count is very low (< 10 * 10^9/L) or there is significant bleeding?
* Oral/IV corticosteroid * IV immunoglobulins * Platelet transfusions (for emergencies)
61
True or False: Platelet transfusions in ITP are a permanent solution.
False
62
Why are platelet transfusions only a temporary measure in ITP?
They are soon destroyed by the circulating antibodies
63
What is Patau syndrome also known as?
trisomy 13 ## Footnote Patau syndrome is characterized by several physical anomalies.
64
List three features of Patau syndrome.
* Microcephalic * Small eyes * Cleft lip/palate * Polydactyly * Scalp lesions
65
What is Edward's syndrome also known as?
trisomy 18 ## Footnote Edward's syndrome presents with distinct physical traits.
66
List three features of Edward's syndrome.
* Micrognathia * Low-set ears * Rocker bottom feet * Overlapping of fingers
67
What condition is associated with learning difficulties and macrocephaly?
Fragile X ## Footnote Fragile X syndrome is a genetic condition that affects development.
68
List three features of Fragile X syndrome.
* Learning difficulties * Macrocephaly * Long face * Large ears * Macro-orchidism
69
What is a key characteristic of Noonan syndrome?
Webbed neck ## Footnote Noonan syndrome includes various physical and health issues.
70
List three features of Noonan syndrome.
* Webbed neck * Pectus excavatum * Short stature * Pulmonary stenosis
71
What is Pierre-Robin syndrome characterized by?
Micrognathia ## Footnote Pierre-Robin syndrome can lead to airway obstruction.
72
List two features of Pierre-Robin syndrome.
* Micrognathia * Posterior displacement of the tongue * Cleft palate
73
What is a defining feature of Prader-Willi syndrome?
Hypotonia ## Footnote Prader-Willi syndrome affects muscle tone and growth.
74
List three features of Prader-Willi syndrome.
* Hypotonia * Hypogonadism * Obesity
75
What is William's syndrome characterized by?
Short stature ## Footnote William's syndrome also affects personality and learning.
76
List three features of William's syndrome.
* Short stature * Learning difficulties * Friendly, extrovert personality * Transient neonatal hypercalcaemia * Supravalvular aortic stenosis
77
What is Cri du chat syndrome also known as?
chromosome 5p deletion syndrome ## Footnote This syndrome is named for the distinctive cry of affected infants.
78
List three features of Cri du chat syndrome.
* Characteristic cry * Feeding difficulties and poor weight gain * Learning difficulties * Microcephaly and micrognathism * Hypertelorism
79
True or False: Treacher-Collins syndrome is autosomal recessive.
False ## Footnote Treacher-Collins syndrome is autosomal dominant, leading to familial occurrences.
80
What are the features of Turner's syndrome?
81
What is Turner syndrome?
A condition occurring when a female has a single X chromosome, resulting in 45 XO
82
What does the 'O' in 45 XO refer to?
An empty space where the other X chromosome should be
83
What is the life expectancy for individuals with Turner syndrome?
Close to normal
84
List some features of Turner syndrome
* Short stature * Webbed neck * High arching palate * Downward sloping eyes with ptosis * Broad chest with widely spaced nipples * Cubitus valgus * Underdeveloped ovaries with reduced function * Late or incomplete puberty * Most women are infertile
85
What is cubitus valgus?
An abnormal feature of the elbow where the forearm is angled away from the body when the arm is extended downwards
86
What are the three classic features of Turner syndrome to remember for exams?
* Short stature * Webbed neck * Widely spaced nipples
87
List some associated conditions with Turner syndrome
* Recurrent otitis media * Recurrent urinary tract infections * Coarctation of the aorta * Hypothyroidism * Hypertension * Obesity * Diabetes * Osteoporosis * Various specific learning disabilities
88
Is there a way to treat the underlying genetic cause of Turner syndrome?
No, treatment aims to help with the symptoms
89
What is the purpose of growth hormone therapy in Turner syndrome management?
To prevent short stature
90
What role do oestrogen and progesterone play in Turner syndrome treatment?
Help establish female secondary sex characteristics, regulate the menstrual cycle, and prevent osteoporosis
91
What can fertility treatment do for women with Turner syndrome?
Increase the chances of becoming pregnant
92
Why is monitoring important in Turner syndrome management?
To manage associated conditions and complications such as hypertension and hypothyroidism

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