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MRCP Haematology > General > Flashcards

General Flashcards

1
Q

What are the genetics of acute intermittent porphyria?

A

Autosomal dominant
Defect in porphobilinogen deaminase
Enzyme involved in the biosynthesis of haem.
toxic accumulation of delta aminolaevulinic acid and porphobilinogen

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2
Q

What is the presentation of acute intermittent porphyria?

A

Abdominal, neurological and psychiatric symptoms

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3
Q

Features of acute intermittent porphyria?

A

abdominal: abdominal pain, vomiting
neurological: motor neuropathy
psychiatric: e.g. depression
hypertension and tachycardia common

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4
Q

What happens to urine on standing in acute intermittent porphyria?

A

Turns deep red on standing

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5
Q

What test can be used to monitor acute intermittent porphyria?

A

raised urinary porphobilinogen (elevated between attacks and to a greater extent during acute attacks)

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6
Q

Management of acute intermittent porphyria in acute flare ?

A

IV haematin/haem arginate
IV glucose should be used if haematin/haem arginate is not immediately available

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7
Q

Where is the defect in haem manufacture in acute intermittent porphyria?

A
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8
Q

What type of malignancy is acute lymphoblastic leukaemia?

A

Acute lymphoblastic leukaemia is malignancy of lymphoid progenitor cells affecting B or T cell lineage

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9
Q

Good prognostic factors for acute lymphoblastic leukaemia?

A

French-American-British (FAB) L1 type
common ALL
pre-B phenotype
low initial WBC
del(9p)

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10
Q

Bad prognostic factors for acute lymphoblastic leukaemia?

A

FAB L3 type
T or B cell surface markers
Philadelphia translocation, t(9;22)
age < 2 years or > 10 years
male sex
CNS involvement
high initial WBC (e.g. > 100 * 109/l)
non-Caucasian

Hypodiploidy is seen as an unfavourable feature in ALL, with the opposite,

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11
Q

What are the features of acute myeloid leukaemia?

A

anaemia: pallor, lethargy, weakness
neutropenia: whilst white cell counts may be very high, functioning neutrophil levels may be low leading to frequent infections etc
thrombocytopenia: bleeding
splenomegaly
bone pain

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12
Q

Poor prognostic factors of AML?

A

> 60 years
20% blasts after first course of chemo
cytogenetics: deletions of chromosome 5 or 7

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13
Q

Genetics of acute promyelocytic leukaemia?

A

associated with t(15;17)
fusion of PML and RAR-alpha genes
presents younger than other types of AML (average = 25 years old)
Auer rods (seen with myeloperoxidase stain)
DIC or thrombocytopenia often at presentation
good prognosis

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14
Q

French American British classification of AML?

A

MO - undifferentiated
M1 - without maturation
M2 - with granulocytic maturation
M3 - acute promyelocytic
M4 - granulocytic and monocytic maturation
M5 - monocytic
M6 - erythroleukaemia
M7 - megakaryoblastic

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15
Q

What genetic translocation is seen in APML?

A

t(15;17) translocation which causes fusion of the PML and RAR-alpha genes.

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16
Q

Presentation of APML?

A

presents younger than other types of AML (average = 25 years old)
DIC or thrombocytopenia often at presentation
good prognosis

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17
Q

What is skin prick testing useful for?

A

Useful for food allergies and also pollen

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18
Q

What does RAST testing detect?

A

amount of IgE that reacts specifically with suspected or known allergens, for example IgE to egg protein

Blood tests may be used when skin prick tests are not suitable, for example if there is extensive eczema or if the patient is taking antihistamines

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19
Q

What is skin patch testing useful for?

A

Useful for contact dermatitis.

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20
Q

What is alpha thalassaemia?

A

Deficiency of both alpha chains in the haemoglobin

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21
Q

Where is the alpha protein of haemoglobin coded?

A

There are two separate genes
Located chromosome 16

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22
Q

Clinical severity based on alpha thalassaemia?

A

Remember there are 4 in total

1 or 2 alpha globulin alleles defects: hypochromic and microcytic, but the Hb level would be typically normal
3 alpha globulin alleles: hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease
4 alpha globulin alleles are affected (i.e. homozygote) then death in utero (hydrops fetalis, Bart’s hydrops)

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23
Q

Dose of adrenaline in anaphylaxis?

A

Adult and child > 12 years 500 micrograms (0.5ml 1 in 1,000)

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24
Q

What type of drug is tamoxifen?

A

Selective oestrogen reuptake modulator

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25
Q

Mechanism of tamoxifen?

A

oestrogen receptor antagonist and partial agonist.

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26
Q

Adverse effects of tamoxifen?

A

menstrual disturbance: vaginal bleeding, amenorrhoea
hot flushes - 3% of patients stop taking tamoxifen due to climacteric side-effects
venous thromboembolism
endometrial cancer

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27
Q

What type of cancer does tamoxifen treat?

A

Oestrogen receptor positive

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28
Q

What type of medication is letrozole?

A

Aromatase inhibitors

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29
Q

Mechanism of aromatase inhibitors?

A

Reduce peripheral oestrogen synthesis

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30
Q

Adverse effects of aromatase inhibitors?

A

osteoporosis
hot flushes
arthralgia, myalgia
insomnia

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31
Q

What should be completed before starting a patient on an aromatase inhibitor?

A

NICE recommends a DEXA scan when initiating a patient on aromatase inhibitors for breast cancer

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32
Q

What type of thrombosis do you get in anti-phospholipid syndrome?

A

Venous and arterial

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33
Q

Features of anti phospholipid syndrome?

A

recurrent miscarriage
IUGR
pre-eclampsia
placental abruption
pre-term delivery
venous thromboembolism

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34
Q

Management of antiphosphlipid syndrome?

A

Once pregnancy confirmed: Aspirin

Once foetal heart beat: LMWH

Discontinue LMWH at 48 weeks

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35
Q

What is the genetic inheritance in anti-thrombin III deficiency?

A

Autosomal dominant

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36
Q

What is the function of anti-thrombin III?

A

Antithrombin III inhibits several clotting factors, primarily thrombin, factor X and factor IX.

It mediates the effects of heparin

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36
Q

What is the function of anti-thrombin III?

A

Antithrombin III inhibits several clotting factors, primarily thrombin, factor X and factor IX.

It mediates the effects of heparin

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37
Q

Features of anti-thrombin III deficiency?

A

Venous thrombosis
Arterial thrombosis is uncommon

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38
Q

How should anti-thrombin III be managed?

A
  1. thromboembolic events are treated with lifelong warfarinisation
  2. heparinisation during pregnancy*
  3. antithrombin III concentrates (often using during surgery or childbirth)
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39
Q

Most common thrombophillia?

A

Factor V leiden

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40
Q

Least common thrombophillia ?

A

Anti-thrombin III

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41
Q

Management of aplastic anaemia?

A
  1. Supportive
    - blood products
    - prevention of infection
  2. Anti-thymocyte globulin (ATG) and anti-lymphocyte globulin (ALG)
  3. stem cell transplant
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42
Q

How is autoimmune haemolytic anaemia divided?

A

Cold and warm
Based on what temperature antibodies cause haemolysis

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43
Q

General investigation findings of autoimmune haemolytic anaemia?

A

anaemia
reticulocytosis
low haptoglobin
raised lactate dehydrogenase (LDH) and indirect bilirubin
blood film: spherocytes and reticulocytes

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44
Q

Specific investigation for haemolytic anaemia ?

A

Postive direct antiglobulin test (postive Coombs test)

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45
Q

What type of immunoglobulin causes warm autoimmune hameolysis?

A

IgG

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46
Q

Causes of warm haemolytic anaemia?

A

idiopathic
autoimmune disease: e.g. systemic lupus erythematosus*
neoplasia
lymphoma
chronic lymphocytic leukaemia
drugs: e.g. methyldopa

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47
Q

What type of antibody cause cold autoimmune haemolysis?

A

IgM

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48
Q

Causes of cold autoimmune haemolytic anaemia?

A

neoplasia: e.g. lymphoma
infections: e.g. mycoplasma, EBV

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49
Q

What is beta thalassaemia major?

A

deficiency of beta globulin chain

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50
Q

What chromosome has the gene for beta globulin?

A

Chromosome 11

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51
Q

Features of beta thalassaemia major?

A

absence of beta globulin chains
chromosome 11

presents in the first year of life with failure to thrive and hepatosplenomegaly
microcytic anaemia
HbA2 & HbF raised
HbA absent

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52
Q

Management of beta thalassaemia major?

A

repeated transfusion
this leads to iron overload → organ failure
iron chelation therapy is therefore important (e.g. desferrioxamine)

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53
Q

What is thalassaemia trait?

A

Reduced production rate of either alpha or beta chains.

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54
Q

What is the genetic inheritance of beta thalassaemia trait?

A

Autosomal recessive

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55
Q

Features of beta thalassaemia trait?

A

mild hypochromic, microcytic anaemia - microcytosis is characteristically disproportionate to the anaemia
HbA2 raised (> 3.5%)

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56
Q

Blood film: Target cells?

A

Sickle-cell/thalassaemia
Iron-deficiency anaemia
Hyposplenism
Liver disease

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57
Q

Blood film: tear drop cells “poikilocytes” ?

A

Myelofibrosis

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58
Q

Blood film: spherocytes?

A

Hereditary spherocytosis
Autoimmune hemolytic anaemia

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59
Q

Blood film: Basophilic stippling ?

A

Lead poisoning
Thalassaemia
Sideroblastic anaemia
Myelodysplasia

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60
Q

Blood film: Howell-Jolly body?

A

Hyposplenism

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61
Q

Blood film: Heinz body?

A

G6PD deficiency
Alpha-thalassaemia

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62
Q

Blood film: Schistocytes?

A

Intravascular haemolysis
Mechanical heart valve
Disseminated intravascular coagulation

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63
Q

Blood film: Hypersegmented neutrophils?

A

Megaloblastic anaemia

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64
Q

Blood film: Burr cells?

A

Uraemia
Pyruvate kinase deficiency

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65
Q

Blood film: typically seen in iron deficiency anaemia?

A

target cells
‘pencil’ poikilocytes
if combined with B12/folate deficiency a ‘dimorphic’ film occurs with mixed microcytic and macrocytic cells

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66
Q

Blood film: hyposplenism?

A

target cells
Howell-Jolly bodies
Pappenheimer bodies
siderotic granules
acanthocytes

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67
Q

What patient groups do you see hyposplenism?

A

Coeliac disease
Splenectomy

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68
Q

Transfusion reaction: What causes non-haemolytic febrile reaction?

A

Antibodies reacting with white cell fragments in the blood product and cytokines that have leaked from the blood cell during storage

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69
Q

What are the features of a non-haemolytic febrile reaction?

A

Fever
Chiills

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70
Q

Management of a non-haemolytic febrile reaction?

A

Slow or stop the transfusion

Paracetamol

Monitor

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71
Q

What is a minor allergic reaction during transfusion thought to result from?

A

Thought to be caused by foreign plasma proteins

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72
Q

Management of minor allergic reaction during transfusion?

A

Temporarily stop the transfusion

Antihistamine

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73
Q

What is thought to cause anaphylaxis from a blood transfusions?

A

caused by patients with IgA deficiency who have anti-IgA antibodies

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74
Q

What causes an acute haemolytic reaction in blood transfusion?

A

ABO-incompatible blood e.g. secondary to human error

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75
Q

How to manage an acute haemolytic reaction?

A

check the identity of patient/name on blood product

Send blood for:
- direct Coombs test
- repeat typing
- cross-matching

Every single platelet you have - give them

Plasma exchange

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76
Q

What causes a transfusion related acute lung injury?

A

Non-cardiogenic pulmonary oedema thought to be secondary to increased vascular permeability caused by host neutrophils that become activated by substances in donated blood

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77
Q

Features of transfusion related acute lung injury

A

Hypoxia, pulmonary infiltrates on chest x-ray, fever, hypotension

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78
Q

What antibodies causes destruction in acute haemolytic transfusion reaction?

A

IgM

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79
Q

How to differentiate between transfusion associated lung reaction and transfusion related circulatory overload?

A

Lung: Hypotension
Circulatory overload: Hypertension

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80
Q

What does irradiated blood not contain?

A

Depleted T lymphocytes

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81
Q

Who require irradiated blood?

A

Bone marrow / stem cell transplant
Immunocompromised (e.g. chemotherapy or congenital)
Patients with/previous Hodgkin lymphoma
HIV

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82
Q

When is CMV negative blood required?

A

Granulocyte transfusions
Intra-uterine transfusions
Neonates up to 28 days post expected date of delivery

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83
Q

When should FFP be used?

A

Major bleed
prothrombin time (PT) ratio or activated partial thromboplastin time (APTT) ratio > 1.5

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84
Q

What does cryoprecipitate contain?

A

Factor VIII:C
von Willebrand factor
fibrinogen
Factor XIII
fibronectin,

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85
Q

When should crypoprecipitate be used?

A

‘clinically significant’ but without ‘major haemorrhage’ who have a fibrinogen concentration < 1.5 g/L

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86
Q

When can cryoprecipitate be used prophylactically?

A

in patients undergoing invasive surgery where there is a risk of significant bleeding where the fibrinogen concentration < 1.0 g/L

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87
Q

Malignancies that metastasise to bone?

A

prostate - most common
breast
lung - least common

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88
Q

Risk factors of breast cancer?

A

BRCA1, BRCA2 genes - 40% lifetime risk of breast/ovarian cancer
1st degree relative premenopausal relative with breast cancer (e.g. mother)
nulliparity, 1st pregnancy > 30 yrs (twice risk of women having 1st child < 25 yrs)
early menarche, late menopause
combined hormone replacement therapy (relative risk increase * 1.023/year of use), combined oral contraceptive use
past breast cancer
not breastfeeding
ionising radiation
p53 gene mutations
obesity
previous surgery for benign disease (?more follow-up, scar hides lump)

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89
Q

What type of cancer is Burkitt’s lymphoma?

A

High grade B cell neoplasm

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90
Q

What are the two forms of Burkitt’s lymphoma?

A

endemic (African) form: typically involves maxilla or mandible
sporadic form: abdominal (e.g. ileo-caecal) tumours are the most common form. More common in patients with HIV

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91
Q

What is the most common genetics of Burkitt’s lymphoma?

A

c-myc gene translocation, usually t(8:14)

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92
Q

Bone marrow appearance of Burkitt’s lymphoma?

A

‘starry sky’ appearance: lymphocyte sheets interspersed with macrophages containing dead apoptotic tumour cells

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93
Q

Features of tumourlysis syndrome?

A

hyperkalaemia
hyperphosphataemia
hypocalcaemia
hyperuricaemia
acute renal failure

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94
Q

Most common cancers UK?

A
  1. Breast
  2. Lung
  3. Colorectal
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95
Q

Most common causes causing death UK?

A
  1. Lung
  2. Colorectal
  3. Breast
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96
Q

Major carcinogen for liver cancer causes?

A

Aflatoxin (produced by Aspergillus)

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97
Q

Major carcinogen for bladder cancer causes?

A

Aniline dyes

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98
Q

Major carcinogen for mesothelioma?

A

asbestosis

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99
Q

Major carcinogen for gastric cancer?

A

Nitrosamines

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100
Q

Major carcinogen for hepatic angiosarcoma?

A

Vinyl chloride

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101
Q

What HPV variants most associated with developing cervical cancer?

A

16, 18 and 33

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102
Q

Non-carcinogenic HPV?

A

6 and 11
Associated with genital warts

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103
Q

What happens to cervical cells infected with HPV?

A

Koilocyte formation

enlarged nucleus
irregular nuclear membrane contour
the nucleus stains darker than normal (hyperchromasia)
a perinuclear halo may be seen

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104
Q

Complications of having CLL?

A

Anaemia
Hypogammaglobulinaemia leading to recurrent infections
Warm autoimmune haemolytic anaemia in 10-15% of patients
Transformation to high-grade lymphoma (Richter’s transformation)

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105
Q

What is a richter Transformation?

A

CLL cell enters lymph node
change into a high-grade, fast-growing non-Hodgkin’s lymphoma
Patient suddenly unwell all of a sudden

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106
Q

Features of a richter’s transformation?

A

lymph node swelling
fever without infection
weight loss
night sweats
nausea
abdominal pain

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107
Q

What type of cancer is CLL?

A

monoclonal proliferation of well-differentiated lymphocytes which are almost always B-cells

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108
Q

Features of CLL?

A

Lymphocytosis
More marked lymphadenopathy than CML

May have:
Autoimmune haemolytic anaemia
thrombocytopenia: may occur either due to bone marrow replacement on immune thrombocytopenia (AIHA)

Blood film: Smudge cells

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109
Q

What immunophenotyping can be found on CLL?

A

CD5, CD19, CD20 and CD23

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110
Q

Indications to start treatment in CLL?

A

Progressive marrow failure: the development or worsening of anaemia and/or thrombocytopenia

Massive (>10 cm) or progressive lymphadenopathy

Massive (>6 cm) or progressive splenomegaly

Progressive lymphocytosis: > 50% increase over 2 months or lymphocyte doubling time < 6 months

Systemic symptoms: weight loss > 10% in previous 6 months, fever >38ºC for > 2 weeks, extreme fatigue,

Night sweats

Autoimmune cytopaenias e.g. ITP

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111
Q

Management of CLL?

A
  1. fludarabine, cyclophosphamide and rituximab (FCR) has now emerged as the initial treatment of choice for the majority of patients
  2. Ibrutinib
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112
Q

Poor prognostic factors CLL?

A

male sex
age > 70 years
lymphocyte count > 50
prolymphocytes comprising more than 10% of blood lymphocytes
lymphocyte doubling time < 12 months
raised LDH
CD38 expression positive
TP53 mutation

Del 17 p (SHORT ARM)

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113
Q

Good prognostic factor CLL?

A

Del Chromosome 13 long arm (Q)

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114
Q

What is the genetics behind CML?

A

translocation between the long arm of chromosome 9 and 22 - t(9:22)(q34; q11)
ABL proto-oncogene from chromosome 9 being fused with the BCR gene from chromosome 22
codes for a fusion protein that has tyrosine kinase activity in excess of normal.

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115
Q

Features of CML?

A

anaemia: lethargy
weight loss and sweating are common
splenomegaly may be marked → abdo discomfort
an increase in granulocytes at different stages of maturation +/- thrombocytosis
decreased leukocyte alkaline phosphatase
may undergo blast transformation (AML in 80%, ALL in 20%)

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116
Q

Management of CML?

A

imatinib is now considered first-line treatment
inhibitor of the tyrosine kinase associated with the BCR-ABL defect
very high response rate in chronic phase CML
hydroxyurea
interferon-alpha
allogenic bone marrow transplant

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117
Q

Mechanism behind type 1 cryoglubinaemia?

A

IgM or IgG

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118
Q

Causes of type 1 crypoglubinaemia?

A

associations: multiple myeloma, Waldenstrom macroglobulinaemia

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119
Q

Mechanism behind type 2 crypoglubinaemia?

A

Polyclonal or monoclonal

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120
Q

Causes of type 2 cryoglobulinaemia?

A

associations: hepatitis C, rheumatoid arthritis, Sjogren’s, lymphoma

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121
Q

Mechanism of type 3 cryoglubvinaemia

A

Polyclonal + rheumatoid factor

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122
Q

Causes of type 3 cryoglubinaemia ?

A

associations: rheumatoid arthritis, Sjogren’s

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123
Q

Features of cryglubinaemia?

A

Raynaud’s only seen in type I

cutaneous
- vascular purpura
- distal ulceration
- ulceration

arthralgia
renal involvement
diffuse glomerulonephritis

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124
Q

Management of cryoglobulinaemia?

A

treatment of underlying condition e.g. hepatitis C
immunosuppression
plasmapheresis

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125
Q

Mechanism of cyclophosphamide ?

A

alkylating agent used in the management of cancer and autoimmune conditions. It works by causing cross-linking of DNA

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126
Q

Adverse effect of cyclophosphamide ?

A

haemorrhagic cystitis: incidence reduced by the use of hydration and mesna
myelosuppression
transitional cell carcinoma

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127
Q

Treatment of haemorrhage cystitis in cyclophosphamide ?

A

Mesna

a metabolite of cyclophosphamide called acrolein is toxic to urothelium
mesna binds to and inactivates acrolein helping to prevent haemorrhagic cystitis

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128
Q

Mechanism of cyclophosphamide?

A

Alkylating agent - causes cross-linking in DNA

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129
Q

Adverse effects of cyclophosphamide?

A

Haemorrhagic cystitis, myelosuppression, transitional cell carcinoma

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130
Q

Mechanism of bleomycin?

A

Cytotoxic antibiotic: Degrades preformed DNA

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131
Q

Mechanism of anthraycline based chemotherapy?

A

Cytotoxic antibiotic
Stabilizes DNA-topoisomerase II complex inhibits DNA & RNA synthesis

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132
Q

What is the mechanism of methotrexate?

A

Antimetabolite
Inhibits dihydrofolate reductase and thymidylate synthesis

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133
Q

Adverse effects of methotrexate?

A

Myelosuppression, mucositis, liver fibrosis, lung fibrosis

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134
Q

What is the mechanism of fluorauracil ?

A

Antimetabolite
Pyrimidine analogue inducing cell cycle arrest and apoptosis by blocking thymidylate synthase (works during S phase)

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135
Q

What is the mechanism of 6 mercaptopurine?

A

Antimetabolite
Purine analogue that is activated by HGPRTase, decreasing purine synthesis

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136
Q

Adverse effect of 6 mercaptopurine?

A

Myelosuppression

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137
Q

What is the mechanism of cytarabine?

A

Anti-metabolitie
Pyrimidine antagonist. Interferes with DNA synthesis specifically at the S-phase of the cell cycle and inhibits DNA polymerase

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138
Q

Adverse effect of cytarabine?

A

Myelosuppression, ataxia

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139
Q

Mechanism of vincristine / vinblastine ?

A

Anti-microtubule
Inhibits formation of microtubules

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140
Q

Adverse effects of vincristine?

A

Vincristine: Peripheral neuropathy (reversible) , paralytic ileus

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141
Q

Side effect of vinblastine?

A

Vinblastine: myelosuppression

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142
Q

Mechanism of docetaxel ?

A

Prevents microtubule depolymerisation & disassembly, decreasing free tubulin

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143
Q

Adverse effect of docetaxel?

A

Neutropaenia

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144
Q

Mechanism of ironotecan?

A

Topoisomerase inhibitor

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145
Q

Adverse effect of ironotecan?

A

Myelosuppression

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146
Q

Mechanism of cisplatin?

A

Causes cross-linking in DNA

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147
Q

Adverse effects of cisplatin?

A

Ototoxicity, peripheral neuropathy, hypomagnesaemia

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148
Q

Mechanism of hydoxyurea?

A

Inhibits ribonucleotide reductase, decreasing DNA synthesis

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149
Q

Adverse effect of hydoxyurea?

A

Myelosuppression

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150
Q

What test should be completed if someone is having a suspected DVT?

A

Active cancer (treatment ongoing, within 6 months, or palliative) 1
Paralysis, paresis or recent plaster immobilisation of the lower extremities 1
Recently bedridden for 3 days or more or major surgery within 12 weeks requiring general or regional anaesthesia 1
Localised tenderness along the distribution of the deep venous system 1
Entire leg swollen 1
Calf swelling at least 3 cm larger than asymptomatic side 1
Pitting oedema confined to the symptomatic leg 1
Collateral superficial veins (non-varicose) 1
Previously documented DVT 1
An alternative diagnosis is at least as likely as DVT

DVT likely >2

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151
Q

How long should a unprovoked DVT be anti coagulated for?

A

6 months

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152
Q

How long should a provoked DVT be treated for?

A

3 months

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153
Q

What are the causes of DIC?

A

sepsis
trauma
obstetric complications e.g. aminiotic fluid embolism or hemolysis, elevated liver function tests, and low platelets (HELLP syndrome)
malignancy

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154
Q

What is the pathophysiology of DIC?

A

Uncoupled coagulation and fibrinolysis
release of a transmembrane glycoprotein (tissue factor =TF)
TF is released in response to exposure to cytokines (particularly interleukin 1), tumour necrosis factor, and endotoxin
TF binds with coagulation factors that then triggers the extrinsic pathway (via Factor VII) which subsequently triggers the intrinsic pathway (XII to XI to IX) of coagulation.

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155
Q

Blood diagnosis of DIC?

A

↓ platelets
↓ fibrinogen
↑ PT & APTT
↑ fibrinogen degradation products
schistocytes due to microangiopathic haemolytic anaemia

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156
Q

What does warfarin do to PT and APTT?

A

PT: Prolonged
APTT: Normal

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157
Q

What does aspsirin do to APTT and PT?

A

Normal PT
APTT normal
Prolonged bleeding time
Normal platelets

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158
Q

Drugs that cause drug induced pancytopenia?

A

cytotoxics
antibiotics: trimethoprim, chloramphenicol
anti-rheumatoid: gold, penicillamine
carbimazole*
anti-epileptics: carbamazepine
sulphonylureas: tolbutamide

159
Q

What drug can cause agranulocytosis and pancytopenia?

A

Carbimoazole

160
Q

What is an ECOG score?

A

Measure the functional status of a patient

0 Fully active, able to carry on all pre-disease performance without restriction
1 Restricted in physically strenuous activity but ambulatory and able to carry out work of a light or sedentary nature, e.g., light house work, office work
2 Ambulatory and capable of all selfcare but unable to carry out any work activities; up and about more than 50% of waking hours
3 Capable of only limited selfcare; confined to bed or chair more than 50% of waking hours
4 Completely disabled; cannot carry on any selfcare; totally confined to bed or chair
5 Dead

161
Q

Pulmonary causes of eosinophilia?

A

Pulmonary causes
- asthma
- allergic bronchopulmonary aspergillosis
- Churg-Strauss syndrome
- Loffler’s syndrome
- tropical pulmonary eosinophilia
- eosinophilic pneumonia
- hypereosinophilic syndrome

162
Q

Infective causes of eosinophilia?

A

schistosomiasis
nematodes: Toxocara, Ascaris, Strongyloides
cestodes: Echinococcus

163
Q

Drug causes of eosinophilia?

A

Sulfasalaine
Nitrofurantoin

164
Q

What is the mechanism of factor V Leiden?

A

Activated protein C resistance
gain of function mutation in the Factor V Leiden protein

165
Q

What is the genetics of fanconi’s anaemia?

A

Autosomal recessive

166
Q

Features of fanconi’s anaemia?

A

haematological:
- aplastic anaemia
- increased risk of acute myeloid leukaemia

neurological
skeletal abnormalities:
short stature
thumb/radius abnormalities

cafe au lait spots

167
Q

What is the inheritance of G6PD?

A

X linked recessive

168
Q

Pathophysiology of G6PD?

A

G6PD is the first step in the pentose phosphate pathway, which converts glucose-6-phosphate→ 6-phosphogluconolactone

↓ G6PD → ↓ reduced NADPH → ↓ reduced glutathione → increased red cell susceptibility to oxidative stress

169
Q

Features of G6PD?

A

neonatal jaundice is often seen
intravascular haemolysis
gallstones are common
splenomegaly may be present
Heinz bodies on blood films. Bite and blister cells may also be seen

170
Q

Drugs that cause haemolysis in G6PD?

A

anti-malarials: primaquine
ciprofloxacin
sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas

171
Q

What is the genetic inheritance of of hereditary spehocytosis?

A

Autosomal dominant

172
Q

Features of hereditary spherocytosis?

A

Neonatal jaundice
* Chronic symptoms although haemolytic crises may be precipitated by infection
* Gallstones
* Splenomegaly is common

173
Q

Test for hereditary spherocytosis?

A

EMA binding

174
Q

Inheritance of li fraumani syndrome?

A

Autosomal dominant
Germline mutation in p53

175
Q

Genetic mutation in BRCA and location of gene?

A

Carried on chromosome 17 (BRCA 1) and Chromosome 13 (BRCA 2)

176
Q

Genetic mutation in Lynch syndrome?

A

Autosomal dominant
Develop colonic cancer and endometrial cancer at young age
80% of affected individuals will get colonic and/ or endometrial cancer
High risk individuals may be identified using the Amsterdam criteria

177
Q

What is the Amsterdam criteria?

A

Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, sibling) relative of the other two.
Two successive affected generations.
One or more colon cancers diagnosed under age 50 years.
Familial adenomatous polyposis (FAP) has been excluded.

178
Q

What is Gardner’s syndrome?

A

Autosomal dominant familial colorectal polyposis
Multiple colonic polyps
Extra colonic diseases include: skull osteoma, thyroid cancer and epidermoid cysts
Desmoid tumours are seen in 15%
Mutation of APC gene located on chromosome 5

179
Q

What granulocyte stimulating factors are there ?

A

Filgrastim
Perfilgrastim

180
Q

Translocation: 9:22?

A

Philadelphia chromosome
Poor prognostic factor for ALL

181
Q

Translocation: 15:17?

A

seen in acute promyelocytic leukaemia (M3)
fusion of PML and RAR-alpha genes

182
Q

Translocation: 8:14?

A

seen in Burkitt’s lymphoma
MYC oncogene is translocated to an immunoglobulin gene

183
Q

Translocation 11:14?

A

Mantle cell lymphoma
deregulation of the cyclin D1 (BCL-1) gene

184
Q

Translocation 14:18?

A

Follicular lymphoma
increased BCL-2 transcription

185
Q

Malignancies associated with EBV?

A

Hodgkin’s
Burkitt’s lymphoma
Nasopharyngeal carcinoma

186
Q

Malignancies associated with HTLV-1?

A

Adult T-cell leukaemia/lymphoma

187
Q

Malignancies associated with HIV-1

A

High grade B cell lymphoma

188
Q

Malignancies associated with helicobacter pylori infection?

A

Gastric lymphoma - MALT

189
Q

Malignancies associated with protoza?

A

Malaria: Burkitt’s lymphoma

190
Q

Differences between intravascular and extravascular haemolysis?

A
191
Q

Causes of intravascular haemolysis?

A

mismatched blood transfusion
G6PD deficiency*
red cell fragmentation: heart valves, TTP, DIC, HUS
paroxysmal nocturnal haemoglobinuria
cold autoimmune haemolytic anaemia

192
Q

Causes of extravascular haemolysis?

A

haemoglobinopathies: sickle cell, thalassaemia
hereditary spherocytosis
haemolytic disease of newborn
warm autoimmune haemolytic anaemia

193
Q

Pathophysiology of intravascular haemolysis?

A

free haemoglobin is released which then binds to haptoglobin
Haptoglobin becomes saturated
binds to albumin forming methaemalbumin (detected by Schumm’s test)

Free haemoglobin is excreted in the urine as haemoglobinuria, haemosiderinuria

194
Q

What test detects intravascular haemolysis?

A

Schumm’s test

195
Q

Causes of extravascular haemolytic?

A

haemoglobinopathies: sickle cell, thalassaemia
hereditary spherocytosis
haemolytic disease of newborn
warm autoimmune haemolytic anaemia

196
Q

Genetics of haemophilia?

A

X linked recessive disorder

197
Q

Deficiecny in haemophilia A?

A

deficiency of factor VIII

198
Q

Deficiency in haemophilia B?

A

Lack of factor IX

199
Q

Features of haemophilia?

A

haemoarthroses
haematomas
prolonged bleeding after surgery or trauma

200
Q

Coagulation findings in haemophilia?

A

Prolonged APTT
Normal PT
Bleeding time
Thrombin time normal

201
Q

Translocation: 4:11

A

Hairy cell leukaemia

202
Q

Features of hairy cell leukaemia?

A

pancytopenia
splenomegaly
skin vasculitis in 1/3 patients
‘dry tap’ despite bone marrow hypercellularity
tartrate resistant acid phosphotase (TRAP) stain positive

203
Q

Treatment of hairy cell leukaemia?

A

chemotherapy is first-line: cladribine, pentostatin
immunotherapy is second-line: rituximab, interferon-alpha

204
Q

Genetics of hereditary angioedema?

A

Autosomal dominant
low plasma levels of the C1 inhibitor (C1-INH, C1 esterase inhibitor) protein

205
Q

Pathophysiology of hereditary angioedema?

A

Low plasma levels of the C1 inhibitor (C1-INH, C1 esterase inhibitor) protein
uncontrolled release of bradykinin resulting in oedema of tissues.

206
Q

Investigation findings in hereditary angioedema?

A

C1-INH level is low during an attack

low C2 and C4 levels are seen, even between attacks. Serum C4 is the most reliable and widely used screening tool

207
Q

Symptoms of hereditary angioedema?

A

Attacks may be proceeded by painful macular rash

Painless, non-pruritic swelling of subcutaneous/submucosal tissues

May affect upper airways, skin or abdominal organs (can occasionally present as abdominal pain due to visceral oedema)

Urticaria is not usually a feature

208
Q

Acute management of hereditary angioedema?

A

Does not respond to adrenaline, antihistamines, or glucocorticoids

IV C1-inhibitor concentrate or

fresh frozen plasma (FFP)@!!!!

209
Q

What is the presentation of hereditary spherocytosis?

A

failure to thrive
jaundice, gallstones
splenomegaly
aplastic crisis precipitated by parvovirus infection
degree of haemolysis variable
MCHC elevated

210
Q

Testing of hereditary spheocytosis?

A

EMA binding
eosin 5 maleimide

211
Q

Complications of spherocytosis?

A

Acute haemolytic crisis

Folate deficiency

212
Q

What are the types of Hodgkin’s lymphoma?

A
  1. Nodular sclerosing
  2. Mixed cellularity
  3. Lymphocyte predominant
  4. Lymphocyte deplete
213
Q

What has the best prognosis of the Hodgkin’s lymphomas ?

A

Nodular scleroising

214
Q

What has the worst prognosis of Hodgkin’s lymphomas?

A

Lymphocyte deplete

215
Q

Best to worst prognosis Hodgkin’s lymphomas?

A
  1. Nodular sclerosing
  2. Mixed cellularity
  3. Lymphocyte predominant - best prognosis
  4. Lymphocyte deplete
216
Q

What features also suggests a poor prognosis (other than subtype) for Hodgkin’s disease?

A

B cell symptoms

weight loss > 10% in last 6 months
fever > 38ºC
night sweats

age > 45 years
stage IV disease
haemoglobin < 10.5 g/dl
lymphocyte count < 600/µl or < 8%
male
albumin < 40 g/l
white blood count > 15,000/µl

217
Q

What are the characteristic cells seen in Hodgkin’s disease?

A

Reed Steenberg cells

218
Q

Risk factors of Hodgkin’s lymphoma?

A

HIV
EBV

219
Q

Features of Hodgkin’s disease?

A

Lymphadenopathy (75%)

systemic - ‘B symptoms’ (25%)
weight loss
pruritus
night sweats
fever (Pel-Ebstein)

220
Q

Blood findings for Hodgkin’s disease ?

A

Normocytic anaemia
may be multifactorial e.g. hypersplenism, bone marrow replacement by HL, Coombs-positive haemolytic anaemia etc
eosinophilia
caused by the production of cytokines e.g. IL-5
LDH raised

221
Q

Causes of hyposplenism ?

A

splenectomy
sickle-cell
coeliac disease, dermatitis herpetiformis
Graves’ disease
systemic lupus erythematosus
amyloid

222
Q

Features of hyposplenism?

A

Howell-Jolly bodies
siderocytes

223
Q

What is IgG4 disease?

A

IgG4-related disease is analogous to sarcoidosis, in which diverse organ manifestations are linked by similar histopathological characteristics

Examples include:
Riedel’s Thyroiditis
Autoimmune pancreatitis
Mediastinal and Retroperitoneal Fibrosis
Periaortitis/periarteritis/Inflammatory aortic aneurysm
Kuttner’s Tumour (submandibular glands) & Mikulicz Syndrome (salivary and lacrimal glands)
Possibly sjogren’s and primary biliary cirrhosis

224
Q

Mechanism of ITP

A

Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex.

225
Q

Presentation of ITP?

A

petechiae, purpura
bleeding (e.g. epistaxis)
catastrophic bleeding (e.g. intracranial) is not a common presentation

226
Q

Management of ITP?

A
  1. Prednisolone
  2. IVIG
  3. Splenectomy if < 30 for 3 months despite treatment
227
Q

What is Evan’s syndrome?

A

ITP + autoimmune haemolytic anaemia

228
Q

Investigation findings in ITP?

A

Shows megakaryocytes in the marrow. This should be carried out prior to the commencement of steroids in order to rule out leukaemia

229
Q

What happens to Haptogobin in haemolytic?

A

Decreases
(Remember haptoglobin binds to free haemoglobin)

230
Q

What does an increased MCHC suggest?

A

Increased
hereditary spherocytosis
autoimmune haemolytic anemia*

231
Q

What does a decreased MCHC suggest ?

A

Decreased
microcytic anaemia (e.g. iron deficiency)

232
Q

What type of hypersensitivites can latex cause?

A

type I hypersensitivity (anaphylaxis)
type IV hypersensitivity (allergic contact dermatitis)
irritant contact dermatitis

233
Q

What is latex fruit syndrome?

A

People who are allergic to latex also likely allergic to fruit

234
Q

Features of lead poisoning?

A

abdominal pain
peripheral neuropathy (mainly motor)
neuropsychiatric features
fatigue
constipation
blue lines on gum margin (only 20% of adult patients, very rare in children)

235
Q

What does blood film show for lead poisoning?

A

Basophillic stippling

236
Q

Lab findings for lead poisoning?

A

Rasied LDH and uric acid
Serum and urine levels of delta aminolaevulinic acid
urinary coproporphyrin

237
Q

Management of lead poisoning?

A

dimercaptosuccinic acid (DMSA)
D-penicillamine
EDTA
dimercaprol

238
Q

Raised levels of leukocyte alkaline phosphatase, seen in?

A

myelofibrosis
leukaemoid reactions
polycythaemia rubra vera
infections
steroids, Cushing’s syndrome
pregnancy, oral contraceptive pill

239
Q

Lower levels of leukocyte alkaline phosphatase seen in?

A

chronic myeloid leukaemia
pernicious anaemia
paroxysmal nocturnal haemoglobinuria
infectious mononucleosis

240
Q

What is a leukaemia reaction?

A

presence of immature cells such as myeloblasts, promyelocytes and nucleated red cells in the peripheral blood

241
Q

Causes of leukaemoid reaction?

A

severe infection
severe haemolysis
massive haemorrhage
metastatic cancer with bone marrow infiltration

242
Q

Features of leukaemoid on blood film?

A

high leucocyte alkaline phosphatase score
toxic granulation (Dohle bodies) in the white cells
‘left shift’ of neutrophils i.e. three or fewer segments of the nucleus

243
Q

What are the three major types of non-small cell lung cancer?

A

Squamous
Adenocarcinoma
Large cell lung cancer

244
Q

Features of squamous cell carcinoma?

A

typically central
associated with parathyroid hormone-related protein (PTHrP) secretion → hypercalcaemia
strongly associated with finger clubbing
cavitating lesions are more common than other types
hypertrophic pulmonary osteoarthropathy (HPOA)

245
Q

Features of adenocarcinoma?

A

typically peripheral
most common type of lung cancer in non-smokers, although the majority of patients who develop lung adenocarcinoma are smokers

246
Q

Features of large cell lung cancer?

A

typically peripheral
anaplastic, poorly differentiated tumours with a poor prognosis
may secrete β-hCG

247
Q

Megaloblastic causes of macrocytosis?

A

vitamin B12 deficiency
folate deficiency

248
Q

Normoblastic causes of macrocytosis?

A

alcohol
liver disease
hypothyroidism
pregnancy
reticulocytosis
myelodysplasia
drugs: cytotoxics

249
Q

Cluster of differentiation associated with mantle cell lymphoma?

A

CD5+, CD19+, CD22+, CD23-, CD10-

250
Q

What is Mantle cell lymphoma?

A

Type of B cell lymphoma
Poor prognosis

251
Q

What is the pathophysiology of methaemoglobin?

A

Haemoglobin is oxidised from Fe2+ to Fe3+
regulated by NADH methaemoglobin reductase
which transfers electrons from NADH to methaemoglobin resulting in the reduction of methaemoglobin to haemoglobin
Fe3+ cannot bind oxygen, and hence the oxidation dissociation curve is moved to the left

252
Q

Congenital causes of methaemoglobin?

A

haemoglobin chain variants: HbM, HbH
NADH methaemoglobin reductase deficiency

253
Q

Acquired causes of methaemoglobin?

A

drugs: sulphonamides, nitrates (including recreational nitrates e.g. amyl nitrite ‘poppers’), dapsone, sodium nitroprusside, primaquine
chemicals: aniline dyes

254
Q

Features of methaemoglobin?

A

‘chocolate’ cyanosis
dyspnoea, anxiety, headache
severe: acidosis, arrhythmias, seizures, coma
normal pO2 but decreased oxygen saturation

255
Q

Management of methaemoglobin?

A

NADH methaemoglobinaemia reductase deficiency: ascorbic acid
IV methylthioninium chloride (methylene blue) if acquired

256
Q

How many people progress to MML in MGUS?

A

Around 10% of patients eventually develop myeloma at 10 years, with 50% at 15 years

257
Q

Features of MGUS?

A

normal immune function
normal beta-2 microglobulin levels
lower level of paraproteinaemia than myeloma (e.g. < 30g/l IgG, or < 20g/l IgA)
stable level of paraproteinaemia
no clinical features of myeloma (e.g. lytic lesions on x-rays or renal disease)

258
Q

Causes of microcytic anaemia?

A

iron-deficiency anaemia
thalassaemia*
congenital sideroblastic anaemia
anaemia of chronic disease (more commonly a normocytic, normochromic picture)
lead poisoning

259
Q

normal haemoglobin level associated with a microcytosis. Consider what?

A

possibility of polycythaemia rubra vera which may cause an iron-deficiency secondary to bleeding.

260
Q

What is the findings of microcytosis in thalassaemia?

A

Extent of microcytosis to anaemia

261
Q

Features of myelofibrosis?

A

anaemia
high WBC and platelet count early in the disease
‘tear-drop’ poikilocytes on blood film
unobtainable bone marrow biopsy - ‘dry tap’ therefore trephine biopsy needed
high urate and LDH (reflect increased cell turnover)

262
Q

Pathophysiology of myelofibrosis?

A

Myeloproliferative disorder
hyperplasia of abnormal megakaryocytes

263
Q

Features of multiple myeloma?

A

CRABBI

Calcium - hypercalcaemia
Renal
Anaemia
Bleeding
Bones
Infection

264
Q

Complications of multiple myeloma?

A

amyloidosis e.g. macroglossia
carpal tunnel syndrome
neuropathy
hyperviscosity

265
Q

Lab findings of multiple myleoma?

A

Protein electrophoresis
Immunoglobulins - immunoparesis
Bence jones
Serum free light chain

full blood count: anaemia
peripheral blood film: rouleaux formation
urea and electrolytes: renal failure
bone profile: hypercalcaemia

266
Q

What imaging is considered gold standard in multiple myeloma?

A

Whole body MRI

267
Q

Diagnostic criteria for multiple myeloma?

A

Major criteria
Plasmacytoma (as demonstrated on evaluation of biopsy specimen)
30% plasma cells in a bone marrow sample
Elevated levels of M protein in the blood or urine

Minor criteria
10% to 30% plasma cells in a bone marrow sample.
Minor elevations in the level of M protein in the blood or urine.
Osteolytic lesions (as demonstrated on imaging studies).
Low levels of antibodies (not produced by the cancer cells) in the blood.

Require: 1 major and 1 minor
OR
3 minor

268
Q

Prognosis of myeloma?

A

B2-microglobulin is a useful marker with albumin

I B2 microglobulin < 3.5 mg/l
Albumin > 35 g/l = 62 months

II Not I or III = 45 months

III B2 microglobulin > 5.5 mg/l = 29 months

269
Q

Steroid management in spinal cord compression?

A

Dexamethasone

270
Q

What is considered neutropenia?

A

< 1.5

271
Q

Causes of neutropenia?

A

viral
- HIV
- Epstein-Barr virus
- hepatitis

drugs
- cytotoxics
- carbimazole
- clozapine

Benign ethic neutropenia
rheumatological conditions
systemic lupus erythematosus
rheumatoid arthritis: e.g. hypersplenism as in Felty’s syndrome
severe sepsis
haemodialysis

272
Q

Neutropaenic sepsis protocol?

A

neutrophil count of < 0.5 * 109
a temperature higher than 38ºC or
other signs or symptoms consistent with clinically significant sepsis

START ABX IMMEDIATELY
antibiotics must be started immediately, do not wait for the WBC

not responding after 4-6 days the Christie guidelines suggest ordering investigations for fungal infections (e.g. HRCT)

273
Q

Symptoms that differentiate Hodgkin’s and non-hogkins?

A

Hodgkin’s lymphoma can experience alcohol-induced pain in the node
‘B’ symptoms typically occur earlier in Hodgkin’s lymphoma

274
Q

Signs of non-hog kin’s lymphoma?

A

Signs of weight loss
Lymphadenopathy (typically in the cervical, axillary or inguinal region)
Palpable abdominal mass - hepatomegaly, splenomegaly, lymph nodes
Testicular mass
Fever

275
Q

What is LDH a marker of?

A

Cell turnover

276
Q

Staging of non-hog kin’s?

A

Stage 1 - One node affected
Stage 2 - More than one node affected on the same side of the diaphragm
Stage 3 - Nodes affected on both sides of the diaphragm
Stage 4 - Extra-nodal involvement e.g. Spleen, bone marrow or CNS

A- no B symptoms
B- presence of B symptoms

276
Q

Staging of non-hog kin’s?

A

Stage 1 - One node affected
Stage 2 - More than one node affected on the same side of the diaphragm
Stage 3 - Nodes affected on both sides of the diaphragm
Stage 4 - Extra-nodal involvement e.g. Spleen, bone marrow or CNS

A- no B symptoms
B- presence of B symptoms

277
Q

Prognosis in Lymphoma?

A

Low-grade non-Hodgkin’s lymphoma has a better prognosis
High-grade non-Hodgkin’s lymphoma has a worse prognosis but a higher cure rate

278
Q

Causes of normocytic anaemia?

A

anaemia of chronic disease
chronic kidney disease
aplastic anaemia
haemolytic anaemia
acute blood loss

279
Q

What is paroxysmal nocturnal haemoaturia

A

Acquired haemolytic disorder
increased sensitivity of cell membranes to complement
lack of glycoprotein glycosyl-phosphatidylinositol (GPI). Patients are more prone to venous thrombosis

280
Q

Features of paroxysmal nocturnal haematuria?

A

haemolytic anaemia
red blood cells, white blood cells, platelets or stem cells may be affected therefore pancytopaenia may be present
haemoglobinuria: classically dark-coloured urine in the morning (although has been shown to occur throughout the day)
thrombosis e.g. Budd-Chiari syndrome
aplastic anaemia may develop in some patients

281
Q

How is paroxysmal nocturnal haematuria diagnosed?

A

flow cytometry of blood to detect low levels of CD59 and CD55

Old test - Hamm’s test - acid-induced haemolysis (normal red cells would not)

282
Q

Management of paroxysmal nocturnal haematuria ?

A

blood product replacement
anticoagulation
eculizumab, a monoclonal antibody directed against terminal protein C5, is currently being trialled and is showing promise in reducing intravascular haemolysis
stem cell transplantation

283
Q

Blood product with highest risk of infection?

A

Platelets

284
Q

When should platelets be prescribed in a major bleed?

A

If < 50

285
Q

Relative causes of polycythaemia?

A

dehydration
stress: Gaisbock syndrome

286
Q

Primary cause of polycythaemia?

A

polycythaemia rubra vera

287
Q

Secondary causes of polycythaemia?

A

Secondary causes
COPD
altitude
obstructive sleep apnoea
excessive erythropoietin: cerebellar haemangioma, hypernephroma, hepatoma, uterine fibroids*

288
Q

How can differentiate between relative and primary polycythaemia?

A

Cell mass studies
In true polycythaemia the total red cell mass in males > 35 ml/kg and in women > 32 ml/kg

289
Q

Features of polycythaemia vera?

A

pruritus, typically after a hot bath
splenomegaly
hypertension
hyperviscosity
- arterial thrombosis
- venous thrombosis
haemorrhage (secondary to abnormal platelet function)
low ESR

290
Q

Criteria for JAK2 positive polycythaemia?

A

A1 High haematocrit (>0.52 in men, >0.48 in women) OR raised red cell mass (>25% above predicted)
A2 Mutation in JAK2

291
Q

Criteria for JAK2 negative polycythaemia?

A

A1 Raised red cell mass (>25% above predicted) OR haematocrit >0.60 in men, >0.56 in women
A2 Absence of mutation in JAK2
A3 No cause of secondary erythrocytosis
A4 Palpable splenomegaly
A5 Presence of an acquired genetic abnormality (excluding BCR-ABL) in the haematopoietic cells
B1 Thrombocytosis (platelet count >450 * 109/l)
B2 Neutrophil leucocytosis (neutrophil count > 10 * 109/l in non-smokers; > 12.5*109/l in smokers)
B3 Radiological evidence of splenomegaly
B4 Endogenous erythroid colonies or low serum erythropoietin

292
Q

Management of polycythaemia?

A
  1. aspirin
    reduces the risk of thrombotic events

2.venesection
first-line treatment to keep the haemoglobin in the normal range

3.chemotherapy
hydroxyurea - slight increased risk of secondary leukaemia
phosphorus-32 therapy

293
Q

Prognosis of polycythaemia?

A

thrombotic events are a significant cause of morbidity and mortality
5-15% of patients progress to myelofibrosis
5-15% of patients progress to acute leukaemia (risk increased with chemotherapy treatment)

294
Q

Features of acute intermittent porphyria?

A

autosomal dominant
defect in porphobilinogen deaminase
female and 20-40 year olds more likely to be affected
typically present with abdominal symptoms, neuropsychiatric symptoms
hypertension and tachycardia common
urine turns deep red on standing

295
Q

Features of porphyria cutanea tarda?

A

most common hepatic porphyria
defect in uroporphyrinogen decarboxylase
may be caused by hepatocyte damage e.g. alcohol, oestrogens
classically photosensitive rash with bullae, skin fragility on face and dorsal aspect of hands
urine: elevated uroporphyrinogen and pink fluorescence of urine under Wood’s lamp

manage with chloroquine

296
Q

Features of variegate porphyria?

A

Variegate porphyria
autosomal dominant
defect in protoporphyrinogen oxidase
photosensitive blistering rash
abdominal and neurological symptoms
more common in South Africans

297
Q

What are immunodeficiency neutrophil disorders?

A

Chronic granulomatous disease
Chediak-Higashi syndrome
Leukocyte adhesion deficiency

298
Q

Features of chronic granulomatous disease ?

A

recurrent pneumonias and abscesses, particularly due to catalase-positive bacteria (e.g. Staphylococcus aureus and fungi (e.g.

299
Q

Mechanism of chronic granulomatous disease?

A

Lack of NADPH oxidase reduces ability of phagocytes to produce reactive oxygen species

300
Q

Features of Chediak-Higashi syndrome ?

A

children have ‘partial albinism’ and peripheral neuropathy. Recurrent bacterial infections are seen
Giant granules in neutrophils and platelets

301
Q

Features of Leukocyte adhesion deficiency?

A

Recurrent bacterial infections.
Delay in umbilical cord sloughing may be seen
Absence of neutrophils/pus at sites of infection

302
Q

What are the B cell immunodeficiency?

A

Common variable immunodeficiency
Bruton’s (x-linked) congenital agammaglobulinaemia
Selective immunoglobulin A deficiency

303
Q

Mechanism of Common variable immunodeficiency?

A

Low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM and IgA.
Recurrent chest infections.
May also predispose to autoimmune disorders and lymphona

304
Q

Mechanism of Bruton’s (x-linked) congenital agammaglobulinaemia

A

X-linked recessive. Recurrent bacterial infections are seen
Absence of B-cells with reduced immunoglogulins of all classes

305
Q

Mechanism of selective immunoglobulin A deficiency?

A

Most common primary antibody deficiency. Recurrent sinus and respiratory infections

Associated with coeliac disease and may cause false negative coeliac antibody screen

Severe reactions to blood transfusions may occur (anti-IgA antibodies → analphylaxis)

306
Q

T cell primary immunodeficiency?

A

Common features include congenital heart disease (e.g. tetralogy of Fallot), learning difficulties, hypocalcaemia, recurrent viral/fungal diseases, cleft palate

307
Q

B cell and T cell primary immunodeficiency?

A

Severe combined immunodeficiency
Ataxic telengectsia
Wiskott-Aldrich syndrome
Hyper IgM Syndromes

308
Q

Features of protein C deficiency?

A

autosomal codominant condition
venous thromboembolism

skin necrosis following the commencement of warfarin: when warfarin is first started biosynthesis of protein C is reduced.

309
Q

Genetics of sickle cell?

A

autosomal recessive condition
synthesis of an abnormal haemoglobin chain termed HbS

310
Q

Pathophysiology of sickle cell ?

A

polar amino acid glutamate is substituted by non-polar valine in each of the two beta chains (codon 6) - Chromosome 11. This decreases the water solubility of deoxy-Hb

in the deoxygenated state the HbS molecules polymerise and cause RBCs to sickle

sickle cells are fragile and haemolyse; they block small blood vessels and cause infarction

311
Q

Management in sickle crisis?

A

analgesia e.g. opiates
rehydrate
oxygen
consider antibiotics if evidence of infection
blood transfusion
exchange transfusion: e.g. if neurological complications

312
Q

Longer term sickle cell mnx?

A

Hydroxyurea
- increases the HbF levels and is used in the prophylactic management of sickle cell anaemia to prevent painful episodes

Pneumococcal polysaccharide vaccine every 5 years

313
Q

Features of a thrombotic sickle cell crisis?

A

painful crises or vaso-occlusive crises
precipitated by infection, dehydration, deoxygenation
Diagnosed clinically
infarcts occur in various organs including the bones - including brain

314
Q

Features of sequestration sickle crisis?

A

sickling within organs such as the spleen or lungs causes pooling of blood with worsening of the anaemia

associated with an increased reticulocyte count

315
Q

Features of acute chest syndrome in sickle cell crisis?

A

vaso-occlusion within the pulmonary microvasculature → infarction in the lung parenchyma
dyspnoea, chest pain, pulmonary infiltrates on chest x-ray, low pO2w

316
Q

Management of an acute chest crisis?

A

pain relief
respiratory support e.g. oxygen therapy
antibiotics: infection may precipitate acute chest syndrome and the clinical findings (respiratory symptoms with pulmonary infiltrates) can be difficult to distinguish from pneumonia
transfusion: improves oxygenation

317
Q

Features of aplastic crisis?

A

caused by infection with parvovirus
sudden fall in haemoglobin
bone marrow suppression causes a reduced reticulocyte coun

318
Q

What is sideroblastic anaemia?

A

condition where red cells fail to completely form haem
leads to deposits of iron in the mitochondria that form a ring around the nucleus called a ring sideroblast

319
Q

Acquired causes of sideroblastic anaemia?

A

myelodysplasia
alcohol
lead
anti-TB medications

320
Q

Lab findings in sideroblastic anaemia?

A

Iron studies
- high ferritin
- high iron
- high transferrin saturation

blood film
- basophilic stippling of red blood cells

bone marrow
- Prussian blue staining will show ringed sideroblasts

321
Q

Management of sideroblastic anaemia?

A

pyridoxine (Vitamin B6) may help

322
Q

Causes of massive splenomegaly?

A

myelofibrosis
chronic myeloid leukaemia
visceral leishmaniasis (kala-azar)
malaria
Gaucher’s syndrome

323
Q

Features of Superior vena cava obstruction?

A

dyspnoea is the most common symptom
swelling of the face, neck and arms - conjunctival and periorbital oedema may be seen
headache: often worse in the mornings
visual disturbance
pulseless jugular venous distension

324
Q

Treatment of SVC obstruction?

A

endovascular stenting is often the treatment of choice to provide symptom relief

325
Q

Causes of thrombocytosis?

A

Reactive
Malignancy
Hyposplenism
Essential thrombocytopenia

326
Q

What is essential thrombocytosis?

A

platelet count > 600 * 109/l
both thrombosis (venous or arterial) and haemorrhage can be seen
a characteristic symptom is a burning sensation in the hands
a JAK2 mutation is found in around 50% of patients

327
Q

Management of essential thrombocytosis?

A

hydroxyurea (hydroxycarbamide) is widely used to reduce the platelet count

interferon-α is also used in younger patients

low-dose aspirin may be used to reduce the thrombotic risk

328
Q

What type of mutation occurs in factor V Leiden?

A

Gain of function mutation

329
Q

Pathogenesis of thrombotic thrombocytopaenic purpura?

A

abnormally large and sticky multimers of von Willebrand’s factor cause platelets to clump within vessels

deficiency of ADAMTS13 (a metalloprotease enzyme) which breakdowns (‘cleaves’) large multimers of von Willebrand’s factor

Overlap with haemolytic uraemia syndrome

330
Q

Features of thrombotic thrombocytopaenic purpura?

A

rare, typically adult females
fever
fluctuating neuro signs (microemboli)
microangiopathic haemolytic anaemia
thrombocytopenia
renal failure

331
Q

Causes of thrombotic thromcytopaenic purpura?

A

post-infection e.g. urinary, gastrointestinal
pregnancy
drugs: ciclosporin, oral contraceptive pill, penicillin, clopidogrel, aciclovir
tumours
SLE
HIV

332
Q

Management of TTP?

A

no antibiotics - may worsen outcome

plasma exchange is the treatment of choice

steroids, immunosuppressants

vincristine

333
Q

What is a thymoma associated with?

A

myasthenia gravis (30-40% of patients with thymoma)
red cell aplasia
dermatomyositis
also : SLE, SIADH

334
Q

Mechanism of tranexamic acid?

A

Prevents plasmin binding and preventing breakdown of fibrin clot

335
Q

Mechanism of rasburicase?

A

recombinant version of urate oxidase, an enzyme that metabolizes uric acid to allantoin.

336
Q

Mechanism of allopurinol?

A

Xanthine oxides inhibitor - reduced amount of uric acid made

337
Q

Features of tumourlysis syndrome?

A

uric acid > 475umol/l or 25% increase
potassium > 6 mmol/l or 25% increase
phosphate > 1.125mmol/l or 25% increase
calcium < 1.75mmol/l or 25% decrease

increased serum creatinine (1.5 times upper limit of normal)
cardiac arrhythmia or sudden death
seizure

338
Q

Tumour marker for ovarian cancer?

A

Ca 125 (monoclonal antibody)

339
Q

Tumour marker for pancreatic cancer?

A

Ca 19-9 (monoclonal antibody)

340
Q

Tumour marker for breast cancer?

A

Ca 15-3 (monoclonal antibody)

341
Q

Tumour antigen for prostatic cancer?

A

PSA

342
Q

Tumour antigen for hepatocellular carcinoma?

A

AFP

343
Q

Tumour antigen for melanoma ?

A

S 100

344
Q

Tumour marker for Small cell lung cancer?

A

Bombesin

345
Q

Tumour antigen for colorectal cancer?

A

CEA

346
Q

Increased risk factor for thrombosis?

A

increased risk with advancing age
obesity
family history of VTE
pregnancy (especially puerperium)
immobility
hospitalisation
anaesthesia
central venous catheter: femoral&raquo_space; subclavian

347
Q

What has a greater chance of clot, femoral or subclavian?

A

Femoral

348
Q

Underlying conditions with increase chance of clotting?

A

malignancy
thrombophilia: e.g. Activated protein C resistance, protein C and S deficiency
heart failure
antiphospholipid syndrome
Behcet’s
polycythaemia
nephrotic syndrome
sickle cell disease
paroxysmal nocturnal haemoglobinuria
hyperviscosity syndrome
homocystinuria

349
Q

Underlying conditions with increase chance of clotting?

A

malignancy
thrombophilia: e.g. Activated protein C resistance, protein C and S deficiency
heart failure
antiphospholipid syndrome
Behcet’s
polycythaemia
nephrotic syndrome
sickle cell disease
paroxysmal nocturnal haemoglobinuria
hyperviscosity syndrome
homocystinuria

350
Q

Medication that increase clotting?

A

combined oral contraceptive pill: 3rd generation more than 2nd generation
hormone replacement therapy: the risk of VTE is higher in women taking oestrogen + progestogen preparations compared to those taking oestrogen-only preparations
raloxifene and tamoxifen
antipsychotics (especially olanzapine) have recently been shown to be a risk factor

351
Q

How is B12 absorbed?

A

Terminal ileum
Binding to intrinsic factor

352
Q

Causes of B12 deficiency?

A

pernicious anaemia: most common cause
post gastrectomy
vegan diet or a poor diet
disorders/surgery of terminal ileum (site of absorption)
Crohn’s: either diease activity or following ileocaecal resection
metformin (rare)

353
Q

Features of vitamin B12 deficiency?

A

macrocytic anaemia
sore tongue and mouth
neurological symptoms
the dorsal column is usually affected first (joint position, vibration) prior to distal paraesthesia
neuropsychiatric symptoms: e.g. mood disturbances

354
Q

How should vitamin B12 be replaced?

A

if no neurological involvement 1 mg of IM hydroxocobalamin 3 times each week for 2 weeks, then once every 3 months

if a patient is also deficient in folic acid then it is important to treat the B12 deficiency first to avoid precipitating subacute combined degeneration of the cord

355
Q

What is the genetics of von willebrands disease?

A

Autosomal dominant
large glycoprotein which forms massive multimers up to 1,000,000 Da in size
promotes platelet adhesion to damaged endothelium
carrier molecule for factor VIII

356
Q

What are the types of von willebrand disease?

A

type 1: partial reduction in vWF (80% of patients)
type 2*: abnormal form of vWF
type 3**: total lack of vWF (autosomal recessive)

357
Q

Investigation findings of von willebrand disease?

A

prolonged bleeding time
APTT may be prolonged
factor VIII levels may be moderately reduced
defective platelet aggregation with ristocetin

358
Q

What is the management of von willebrand disease?

A

tranexamic acid for mild bleeding

desmopressin (DDAVP): raises levels of vWF by inducing release of vWF from Weibel-Palade bodies in endothelial cells

factor VIII concentrate

359
Q

What is Waldenstrom’s macroglobulinaemia?

A

lymphoplasmacytoid malignancy
Charatcerised by an IgM paraproteins

360
Q

Features of waldenstrom’s macroglobulinaemia?

A

systemic upset: weight loss, lethargy
hyperviscosity syndrome e.g. visual disturbance
the pentameric configuration of IgM increases serum viscosity
hepatosplenomegaly
lymphadenopathy
cryoglobulinaemia e.g. Raynaud’s

361
Q

Goldstandard test for waldenstrom’s?

A

Bone marrow
monoclonal IgM paraproteinaemia
bone marrow biopsy is diagnostic
infiltration of the bone marrow with lymphoplasmacytoid lymphoma cells

362
Q

Management of waldenstrom’s?

A

Rituximab

363
Q

What is Wiskott aldrich syndrome?

A

Primary immunodeficiency due to a combined B- and T-cell dysfunction
Genetic mutation in WASP gene

364
Q

Features of Wiskott Aldrich syndrome?

A

recurrent bacterial infections (e.g. Chest)
eczema
thrombocytopaenia
low IgM levels

365
Q

Feature of methaehaemoglobin?

A

Normal pO2 but decreased oxygen saturation is characteristic of methaemoglobinaemia

366
Q

Mechanism of TTP?

A

Acquired inhibition of the protein ADAMTS13 which cleaves vWF multimers is the most common cause of TTP
platelets clump in vessels

367
Q

How does HPV 16 and 18 cause cancer ?

A

Suppress tumour suppressors

368
Q

Hereditary angioedema prophylaxis?

A

prophylaxis: anabolic steroid Danazol may help

369
Q

How should malignant cord compression be managed?

A

If suspected, give dexamethasone

370
Q

What anti-emetic block neurokinin 1

A

Apretiant

371
Q

In a leukaemoid reaction, what can be seen in the white cells?

A

Dohle bodies

372
Q

Genotype of less severe sickle cell?

A

HbSC

373
Q

What stain is used for sideroblasts?

A

Perl’s stain

374
Q

Features of oral allergy syndrome?

A

strongly linked with pollen allergies and presents with seasonal variation

375
Q

what is the main mechanism of oestrogen synthesis in post menopausal women?

A

peripheral oestrogen synthesis
Therefore aromatase inhibitors should be used first line

375
Q

what is the main mechanism of oestrogen synthesis in post menopausal women?

A

peripheral oestrogen synthesis
Therefore aromatase inhibitors should be used first line

376
Q

Blood film of CML?

A

an increase in granulocytes at different stages of maturation +/- thrombocytosis

377
Q

Most common haemophilia?

A

haemophilia A

378
Q

What is the key investigation for CLL?

A

Immunophenotyping

379
Q

Why do CLL patients keep getting infections?

A

Hypogammaglobulinaemia

380
Q

What is the best screening test for hereditary aniogedema, in between attacks?

A

C4

381
Q

Most common cause of neutropenic sepsis?

A

Gram positiive cocci
most frequent cause is Staphylococcus epidermidis, and following this are other staphylococci and streptococci species.

382
Q

In beta thalassaemia major, what primitive haemoglobin is elevated?

A

HbA2

383
Q

Raynoid’s + weird cryo rash?

A

Cryoglobulin type 1

384
Q

How may waldenstrom’s present?

A

Hyperviscosity

385
Q

Is SVC obstruction mostly caused by primary malignancy or metastasis ?

A

Primary

386
Q

Sickle cell + sudden drop in haemoglobin?

A

Aplastic crisis

387
Q

What thrombophillia is resistant to heparin?

A

Anti-thrombin III deficiencey

388
Q

What is the purpose of irradiating blood?

A

Irradiated blood products are used as they are depleted in T-lymphocytes

389
Q

Test for lead poisoning?

A

Corprophyrin

390
Q

Management of haemolytic crisis?

A

Fluids
Steroids

391
Q

Why is CKD a risk factor for thrombosis?

A

Loss of antithrombin 3

392
Q

What is the triad os felty’s syndrome?

A

Low neutrophils
Splenomegaly
Rheumatoid arthritis.

MRCP Haematology (2 decks)

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