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year 3 conditions > haematology > Flashcards

haematology Flashcards

1
Q

what are the two types of haemachromatosis

A

Primary Haemochromatosis
→ hereditary, most common form
Autosomal recessive inheritance
Mutations on the HFE gene

Secondary Haemochromatosis
→ caused by iron overload
Commonly transfusion related

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2
Q

which gene causes primary haemachromatosis and what is the inheritance pattern

A

HFE gene
Autosomal recessive

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3
Q

symptoms of haemachromatosis

A

fatigue
arthralgia
erectile dysfunction
grey/bronze pigmentation
polyuria / polydipsia
cirrhosis / hepatomegaly

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4
Q

what is the most useful marker for haemachromatosis

A

serum transferrin saturation >45%

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5
Q

what is the first test to become abnormal in haemachromatosis

A

serum transferrin saturation >45%

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6
Q

describe the iron study results for haemachromatosis

A

high serum iron
high serum ferritin
low TIBC
serum transferrin saturation >45%

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7
Q

management of haemachromatosis

A

1st line: therapeutic phlebotomy
2nd line: drug induced iron chelation - Deferoxamine

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8
Q

what globins make up HbF

A

2 alpha globin + 2 gamma globin

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9
Q

what globins make up HbA

A

2 alpha globin + 2 beta globin

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10
Q

what globins make up HbA2

A

2 alpha globin + 2 delta globin

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11
Q

what is the inheritance pattern of all haemaglobinopathies (sickle cell, thalassemia)

A

autosomal recessive

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12
Q

contrast alpha and beta thalassemia in terms of common pt population, number of alleles, and electrophoresis results

A

beta
- mediterranean descent
- 2 alleles
- no HbA, raised HbA2 and HbF
- no HbH
(look for raised HbA2 in Hb electrophoresis)

alpha
- asian and African descent
- 4 alleles
- present HbH
(look for HbH band in Hb electrophoresis)

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13
Q

what are the 2 forms of beta thalassemia and their symptoms

A

1 defective allele: Beta thalassemia minor
→ mild microcytic hypochromic anaemia.
Asymptomatic

2 defective alleles: Beta thalassemia major
→ severe haemolytic anaemia,
hepatosplenomegaly,
skeletal deformities

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14
Q

what are the 4 forms of alpha thalassemia and their symptoms

A

1 defective allele: Silent Carrier
→ asymptomatic.
No anaemia.

2 defective alleles: Αlpha Thalassaemia Trait
→ microcytic hypochromic red cells.
No anaemia.

3 defective alleles: Haemoglobin H (HbH) Disease
→ microcytic hypochromic anaemia with splenomegaly

4 defective alleles: Haemoglobin Bart Disease
→ intrauterine death

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15
Q

management of thalassemia major

A

lifelong blood transfusion therapy
(this may lead to iron overload so also give iron chelation therapy - Desferrioxamine)

genetic screening

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16
Q

individuals with an absent or dysfunctional spleen are at increased risk of severe infection esp caused by which bacteria?

A

the encapsulated bacteria - NHS
N. meningitidis
H. influenzae type b (Hib)
S. pneumoniae (pneumococcus)

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17
Q

what is seen on a blood film in hyposplenism / after splenectomy

A

howell-jolly bodies,
target cells,
pappenheimer bodies (siderocytes)

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18
Q

what do Howell jolly bodies indicate

A

splenic dysfunction

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19
Q

why is prophylactic aspirin usually indicted after a splenectomy

A

pt will have very high platelet count - thrombocytosis
(spleen is the primary site of destruction of platelets)

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20
Q

management of hypospelnism or splenectomy

A

prophylactic aspirin if they have thrombocytosis

Immunisations
→ vaccinations against
N. meningitidis,
H. influenzae type b and influenza virus
S. pneumoniae,

○ Pneumococcal vaccine 2 weeks before elective splenectomy
○ Annual influenza vaccination and Pneumococcal vaccine every 5 years

Prophylactic Antibiotics (Penicillin or Amoxicillin)
→ recommended in patients at high risk of pneumococcal infections

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21
Q

causes of DIC

A

STOP MT
⇒ sepsis/snakebites,
trauma,
osbtetric conditions,
pancreatitis,
malignancy,
Transfusion

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22
Q

acute vs chronic DIC

A

acute
- caused by trauma, sepsis and blood transfusions
- causes bleeding issues (petechiae, purpura, ecchymoses, epistaxis)

chronic
- caused by malignancy
- causes clotting issues (signs of DVT or arterial thrombosis)

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23
Q

significant FBC results in DIC

A

low platelets,
low haemoglobin

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24
Q

clotting results in DIC

A

low fibrinogen,
high D-dimer (fibrinogen degradation products),
prolonged PT + APTT

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25
Q

what is seen on blood film in DIC

A

schistocytes (fragmented RBC)

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26
Q

management of DIC

A

Platelet + Coagulation Factors Transfusion
○ Fresh Frozen Plasma
→ contains clotting factors (AB = universal donor)
○ Cryoprecipitate
→ replaces fibrinogen

Anticoagulation
→ Heparin

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27
Q

inheritance pattern of sickle cell

A

autosomal recessive

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28
Q

describe the mutation in sickle cell

A

mutation on 6th amino acid of beta chain of haemoglobin
polar glutamic acid is replaced by non polar valine

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29
Q

at what age does sickle cell present and why

A

6 months
HbF decreases and HbS increases

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30
Q

what disease does sickle cell have a protective factor against

A

malaria

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31
Q

what is the haemaglobin in sickle cell trait vs disease

A

HbAS - trait
HbSS - disease

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32
Q

describe the 4 dangerous events in sickle cell

A

vaso-occlusive crisis
- blood vessels blocked by sickle cells causing infarction

ACS (acute chest syndrome)
- pulmonary infiltrates causing dysnpea, wheeze, cough, temp, pain

sequestration crisis (splenic sequestration)
- sickled RBCs sequester in spleen and undergo phagocytosis –> functional hyposplenism –> reduced immune function (esp to encapsulated organisms - NHS)
- HIGH RETICULOCYTES + SPLENOMEGALY

Aplastic crisis
- parvovirus B19 stops erythropoiesis
- LOW RETICULOCYTES + SUDDEN ANAEMIA (drop in Hb)

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33
Q

list some symptoms of sickle cell

A

vaso-occlusive crisis
dactylitis
bone pain
high temp
Acute chest syndrome
lethargy + anaemia symptoms
splenic sequestration / splenomegaly

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34
Q

what is sickling in sickle cell disease precipitated by

A

infection
dehydration
hypoxia
acidosis
stress
cold
fatigue

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35
Q

gold standard Ix for sickle cell and results

A

Hb electrophoresis
- no HbA
- ^ HbF
- present HbS

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36
Q

what does blood film show in sickle cell

A

sickle cells
Howell jolly bodies
target cells

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37
Q

how does reticulocyte level differ in sequestration crisis vs aplastic crisis

A

splenic sequestration = high reticulocytes
(as RBCs are being phagocytoses in spleen, so new ones are made more rapidly)

aplastic crisis = low reticulocytes
(as parvovirus B19 stops erythropoiesis)

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38
Q

management of vase-occlusive crisis

A

strong analgesia
oxygen
fluids
transfusion
abx if infected

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39
Q

tx for chronic sickle cell disease

A

hydroxyurea (increases HbF which decreased frequency and duration of crisis)
regular transfusion
vaccinations

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40
Q

which mutation is associated with myeloproliferative disorders eg myelofibrosis, polycythaemia vera, thrombocythaemia

A

JAK2 mutation

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41
Q

describe mechanism of essential thrombocytosis (aka primary thrombocythaemia)

A

dysregulation of megakaryocyte proliferation
–> increase in circulating platelets
–> thrombocytosis

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42
Q

describe the mechanism of meylofibrosis

A

fibrosis of bone marrow
–> bone marrow failure
–> myeloproliferation in the spleen (to compensate for bone marrow not making any cells)
–> splenomegaly

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43
Q

which 2 myeloprolifertaive disorders cause massive splenomegaly

A

myelofibrosis
CML

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44
Q

what is dry tap and what condition is it seen in

A

failure of bone marrow aspirate
myelofibrosis

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45
Q

what is seen on blood film in myelofibrosis

A

tear drop poikilocytes (dactrocytes)
–> flat, elongated RBCs

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46
Q

what is erythromelalgia and which conditions is it seen in

A

warm, red, painful extremities (esp legs/feet)
worse in heat, better in cold
meyloprolifertaive disorders, some autoimmune diseases (eg lupus, MS)

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47
Q

what is the platelet count in myeloproliferative disorders

A

≥450 x 10⁹/L

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48
Q

which medication can be used to reduce platelet count in myeloroliferative disorders

A

hydroxycarbamide
(and use aspirin to precent thrombosis)

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49
Q

what is the inheritance pattern if haemophilia

A

X linked recessive
(so only in males)

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50
Q

what stage of haemostasis is affected in haemophilia

A

secondary haemostasis - as haemophilia causes a deficiency of coagulation factor

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51
Q

which factors are deficient in haemophilia A vs B

A

A –> 8
B —> 9

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52
Q

is haemophilia A vs B more common

A

A

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53
Q

how do you classify haemophilia severity according to haematoma formation

A

mild - haematoma formation after severe trauma
moderate - haematoma formation after mild trauma
severe - spontaneous haematoma formation

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54
Q

what is the hallmark sign/symptom of haemophilia

A

MSK bleeding
(pain/swelling/erythema/warmth.reduced rang of motion)

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55
Q

describe the investigations needed for haemophilia

A

test homeostasis pathways: prolonged APPT, normal PT
do a plasma factor 8 and 9 assay to confirm diagnosis
can also d a mixing study

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56
Q

what is the resist of a mixing study in haemophilia

A

correction of APTT with the mixing study suggests a coagulation factor deficiency and hence haemophilia

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57
Q

which medication can be used to increase factor 8 in haemophilia A and how

A

Desmopressin
- triggers release of VWF which increases factor 8

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58
Q

which medications can inhibit break down clots and reduce risk bleeding in haemophilia

A

tranexamic acid
aminocarporic acid

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59
Q

what is the most common inherited bleeding disorder

A

Von willebrand disease

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60
Q

contrast type 1,2,3 von willebrand disease in terns of effect on VWF and inheritance pattern

A

Type 1
→ partial reduction in vWF
(autosomal dominant)

Type 2
→ abnormal form of vWF
(autosomal dominant)

Type 3
→ total lack of vWF
(autosomal recessive)

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61
Q

which condition does this describe
prolongued bleeding time, prolonged APTT, factor 8 levels may be reduced

A

von willebrand disease

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62
Q

describe bleeding time in haemophilia

A

normal, APTT is prolonged

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63
Q

normal bleeding time, prolonged APTT, no factor 8
what condition does this describe

A

haemophilia A

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64
Q

normal bleeding time, prolonged APTT, no factor 9
what condition does this describe

A

haemophilia B

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65
Q

Tx for Von willebrand disease

A

tranexamic acid for mild bleeding,
desmopressin,
factor 8 concentrate

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66
Q

which medication can cause bone marrow suppression and hence pancytopenia

A

methotrexate

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67
Q

what type of anaemia is aplastic anaemia

A

normochromic normocytic anaemia

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68
Q

investigations for pancytopenia

A

FBC and blood smear
Then,
- bone marrow biopsy to check if bone marrow suppression is the cause
- LFTs / B12 and folate / coagulation / viral serology / autoimmune profile
- screen for PNH and IBMFS

(PNH = paroxysmal nocturnal haemoglobinuria, IBMFS = inherited bone marrow failure syndrome)

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69
Q

pancytopenia tx

A

RBC and platelet transfusion
bone marrow / stem cell transplant

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70
Q

what is polycythaemia

A

increase in Hb conc

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71
Q

what is relative vs absolute (true) polycythaemia

A

○ Relative Polycythaemia
⇒ normal red cell mass but low plasma volume
-Relative Causes
→ dehydration, stress

Absolute (True) Polycythaemia
⇒ increased red cell mass
- causes hyper-viscosity (mucosal bleeding, neurological symptoms, visual changes, thrombosis)

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72
Q

what is hyperviscocity syndrome and which type of polycythaemia does it present in

A

presents in absolute/true polycythaemia which is when there’s an increased red cell mass
triad of:
mucosal bleeding
neurological symptoms (headache, dizzy)
visual changes

and increases risk of thrombosis

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73
Q

what is primary vs secondary polycythaemia

A

primary (aka Polycythaemia Vera)
- EPO independent
therefore EPO is LOW
- can be caused by Budd-Chiari syndrome
- can cause acute myeloid leukaemia or myelofibrosis

secondary
- EPO dependent (driven by excess EPO
therefore EPO is high
- due to either
chronic hypoxia (COPD, living at high altitude)
or inappropriate increase in EPO (hepatocellular/renal carcinoma, EPO abuse by athletes)

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74
Q

which mutation do you look for if you suspect polycythaemia vera

A

positive JAK 2 gene mutation

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75
Q

symptoms of polycythaemia

A

red face
painful burning and redness of hands/feet
pruritus - WORSE in WARM water
splenomegaly
hyoerviscosity syndrome (mucosal bleeding, neurological symptoms, visual changes )

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76
Q

what are Hb, haematocrit and platelet levels in polycythaemia

A

all elevated

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77
Q

management/tx for polycythaemia

A

phlebotomy (venesection)
aspirin
cryoreductive therapy
JAK2 inhibitor (ruxolitinib) for polycythaemia vera

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78
Q

what condition increases risk of both acute leukemias

A

down syndrome

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79
Q

what is the most common leukaemia in children

A

Acute lymphoblastic leukaemia

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80
Q

what age is acute myeloid leukaemia seen in

A

adults, 65 yrs

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81
Q

what is the most common cause of AML

A

pre-existing haematopoietic disorders eg aplastic anaemia, myeloprolifertaive disorders

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82
Q

what is seen on cytology in AML

A

Auer rods ( large pink/red stained needle-like structures)

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83
Q

what are the distinguishing signs/symtpoms between ALL and AML

A

ALL - has lymphadenopathy and fevers
AML - does NOT have lymphadenopathy and fevers

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84
Q

describe the levels of cells in acute leukaemia

A

everything low - neutropenia, thrombocytopenia, anaemia
EXCEPT blasts which are high

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85
Q

what is present on peripheral blood smear in acute leukaemia

A

presence of blast cells (immature WBCs)

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86
Q

how to confirm diagnosis of acute leukaemia

A

Bone Marrow Aspiration & Biopsy
→ Hypercellular marrow with >20% of cells being lymphoblasts (ALL).

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87
Q

what is the most common type of leukaemia in adults

A

CLL (chronic lymphocytic leukemia)

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88
Q

what is Richter transformation and what are signs of it

A

when chronic lymphocytic leukaemia transforms to become non hodgkins lymphoma
(presents with lymph node swelling, fever, weight loss, night sweats)

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89
Q

the proliferation of which cells causes chronic lymphocytic leukaemia

A

B cells (lymphocytes)

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90
Q

what is seen on blood film in chronic lymphocytic leukaemia

A

smudge ie smear cells

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91
Q

thromobotic risk level in all the different types of leukaemia

A

acute: low thrombotic risk (thrombocytopenia)
CLL: low thrombotic risk (thrombocytopenia)
CML: hyper-viscosity so higher thrombotic risk

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92
Q

the proliferation of which cells causes chronic myeloid leukaemia

A

granulocyte

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93
Q

in which type of leukaemia is there an increase in all the cells whilst the others dont

A

CML

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94
Q

which gene mutation is associated with CML

A

philadelphia chromosome
reciprocal translocation between chromosome 9 and chromosome 22.
The resulting BCR-ABL gene codes for a fusion protein that has tyrosine kinase activity in excess of norma

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95
Q

levels of leukocyte alkaline phosphatase (LAP) in CML

A

low

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96
Q

which medication can be used in tx of CML

A

tyrosine kinase inhibitor (Imatinib)

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97
Q

what is the urgent referral criteria for leukaemia in 0-24 yr olds

A

refer for immediate specialist assessment for leukaemia if unexplained petechiae or hepatosplenomegaly (urgent FBC)

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98
Q

mx of leukemia

A

chemotherapy
radiotherapy
stem cell transplant

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99
Q

what is seen on blood film in ALL

A

blast lymphoid cells

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100
Q

what is seen on blood film in CML

A

left shift

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101
Q

which type of leukaemia presents with massive splenomegaly

A

CML (think, the one that has the higher levels of cells)

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102
Q

contrast hogdkin and non Hodgkins lymphoma

A

hodgkin
- B cells
- bimodal age distribution
- due to EBV, or immunosuppression (eg HIV)
- affects lymph nodes above diaphragm
- contiguous spread, only affects a single group of nodes
- extra nodal involvement is rare
- B symptoms are early, and are also a sign of bad prognosis
- Reed Sternberg cells
- better prognosis, less common

non hodgkin
- B or T cells
- increases with age
- due to chromosomal translocation, infection, autoimmune conditions, immunodeficiency
- affects multiple node groups
- non contiguous spread
- extra nodal involvement is common
- neoplastic cells of B cell lineage
- B symptoms are later
- worse prognosis, more common

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103
Q

what type of lymphoma are Reed Sternberg cells associated with

A

hodgkin lymphoma (particularly, mixed cellular hodgkin lymphoma)

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104
Q

what are the 4 types of hodgkin lymphomas

A

nodular sclerosing
- most common
- good prognosis
- females
- lacunar cells

mixed cellularity
- good prognosis
- many Reed Sternberg cells

lymphocyte predominant
- best prognosis

lymphocyte depleted
- rare
- worst prognosis

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105
Q

symptoms of hodgkin lymphoma

A

painless lymphadenopathy most commonly involving the cervical or supraclavicular nodes.
Involvement of single group of lymph nodes.
Alcohol induced pain.
Pruritus.
B symptoms.

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106
Q

symptoms of non hodgkin lymphoma

A

rubbery painless lymphadenopathy associated with fatigue.
Splenomegaly.
Extranodal disease = GI (dyspepsia, dysphagia, abdo pain), bone marrow (bone pain), neurological (headache).
Affects multiple nodes

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107
Q

which type of lymphoma has a starry sky appearance on microscopy

A

burkitt’s lymphoma (subtype of non hodgkin lymphoma)

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108
Q

what patients is a burkitt’s lymphoma common in

A

HIV pts

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109
Q

what can happen as a result of a burkitt’s lymphoma’s response to chemotherapy

A

Chemotherapy tends to produce rapid response which can cause tumour lysis syndrome

Tumour Lysis Syndrome → PUKE Calcium = phosphorus, uric acid, potassium elevated. Calcium reduced.

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110
Q

Ix for hogdkin vs non Hodgkins lymphoma

A

hodgkin
- histology and biopsy
(reed Sternberg cells)

non hodgkin
- lymph node biopsy and immunohistochemistry

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111
Q

what does elevated LDH mean for lymphomas

A

poor prognosis

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112
Q

what imaging modality and scoring system is used for staging lymphomas

A

PET-CT CAP → staging (“lugano classification” based on the Ann-Arbor Staging)

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

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113
Q

tx for lymphomas

A

chemo and/or radiotherapy

114
Q

what are some factors which suggest worse prognosis for hodgkins lymphoma

A

B-symptoms,
increasing age (>45),
male,
stage 4 disease
lymphocyte depleted subtype.

115
Q

what are the most common oral anticoagulants

A

vitamin K antagonists (warfarin) and DOACs (apixaban)

116
Q

what is the most common parenteral anticoagulant

A

heparin

117
Q

which factors is vitamin K responsible for the production of

A

2, 7, 9, 10

118
Q

what is the mechanism of warfarin

A

vit K antagonist

119
Q

what are the advantages and disadvantages of warfarin

A

+
can be directly reversed by replacement of warfarin

  • long half life
    lots of interactions
    requires regular monitoring via INR and PT
120
Q

target INR for metallic mitral valve replacement

A

2.5-3.5 (3)

121
Q

target INR for AF

A

2 - 3 (2.5)

122
Q

target INR for metallic aortic valve replacement

A

2 - 3 (2.5)

123
Q

target INR following VTE

A

2 - 3 (2.5)

124
Q

what type of med are apixaban / rivoroxaban and what is their mechanism

A

DOAC
factor 10a inhibitors

125
Q

why are DOACs preferred to warfarin

A

they require less monitoring

126
Q

what type of med is enoxaparin

A

LMWH

127
Q

contrast unfractioned (standard) heparin and LMWH (enoxaparin)
and which is preferred and why

A

Unfractionated (Standard) Heparin
→ IV, short acting, monitored via APTT

LMWH (eg. enoxaparin)
→ subcutaneous, long acting, monitored via anti-factor 10a.
Usually preferred as lower risk of heparin-induced thrombocytopenia.
(Activates antithrombin III. Forms a complex that inhibits factor 10a)

128
Q

site of action of heparin vs warfarin

A

heparin - blood
warfarin - liver

129
Q

monitoring of heparin vs warfarin

A

heparin
- APTT (standard)
- antifactor 10a (LMWH)

warfarin
- INR
- PT

130
Q

routes of administration heparin vs warfarin

A

heparin
- IV (standard)
- subcutaneous (LMWH)

warfarin
- oral

131
Q

what can be given to reverse heparin

A

protamine sulfate

132
Q

what score can be used to assess bleeding risk

A

ORBIT score

133
Q

how long before surgery should warfarin vs heparin be stopped, and what should INR be

A

INR should be <1.5
warfarin - 5 days before (give vit K if INR >1.5 the day before)
heparin - few hours before

134
Q

describe how P450 inducers and inhibitors affect warfarin and INR

A

P450 Inducers - reduced warfarin activity (INR decreases)
SCARS =
smoking,
ciroc (alcohol),
anti-epileptics (carbamazepine, phenytoin),
rifampicin,
st johns wart

P450 Inhibitors - increased warfarin activity (INR increases)
ASS-ZOLES =
antibiotics (Ciprofloxacin, Isoniazid, Clarithromycin, Erythromycin),
SSRI’s (Fluoxetine, Sertraline),
sodium valproate,
-zoles (Omeprazole, Ketoconazole, Fluconazole)

135
Q

management of INR and warfarin if
- major bleed
- INR > 8, minor bleed
- INR > 8, no bleed
- INR 5-8, minor bleed
- INR 5-8, no bleed

A
  • major bleed
    stop warfarin
    IV vit K
    PCC (prothrombin complex concentrate)
  • INR > 8, minor bleed
    stop warfarin
    IV vit K
    repeat in 24hrs if still high
    restart warfarin when INR <5
  • INR > 8, no bleed
    stop warfarin
    oral vit K
    repeat in 24hrs if still high
    restart warfarin when INR <5
  • INR 5-8, minor bleed
    stop warfarin
    IV vit K
    restart warfarin when INR <5
  • INR 5-8, no bleed
    miss a couple doses of warfarin
    reduce subsequent maintenance dose
136
Q

how does parvovirus present

A

prodrome. of fever, sore throat, resp symptoms, diarrhoea
followed by rash on body and cheeks

137
Q

tear drop poikilocytes are the classical blood film finding for what

A

myelofibrosis

137
Q

painless lump in neck
worse pain on draining alcohol
night sweats
diagnosis

A

Hodgkins lymphoma

138
Q

which B cell marker foes ritixumab target

A

CD20

139
Q

which lymphomas are associated with EBV

A

Burkitt’s lymphoma (BL)
Hodgkin lymphoma (HL)

140
Q

translocation between which two chromosomes is associated with burkitts lymphoma

A

8 and 14

141
Q

what is translation between chromosome 9 and 22 associated with

A

CML

142
Q

what is retoculocytosis a feature of

A

haemolysis

143
Q

management of tumour lysis syndrome

A

aggressive hydration ad allopurinol treatment
give rasburicase if there is no improvement

144
Q

pt with leukaemia presents with fatigue and lethargy and has elevated uric acid, potassium and widespread lymphadenopathy
diagnosis?

A

tumour lysis syndrome
PUKE Calcium = phosphorus, uric acid, potassium elevated. Calcium reduced.

145
Q

describe features of ALL

A

children under 5
lymphadenopathy
splenomegaly
features of anaemia eg fatigue, pallor
features of thrombocytopenia eg bleeding, petechiae
features of neutropenia eg infections

146
Q

what is a rouleaux formation and in which condition can it be seen

A

Rouleaux formation describes the appearance of clumped red blood cells. It is usually the result of abnormally high levels of proteins such as immunoglobulins in multiple myeloma.

147
Q

what type of pts need irradiated blood if they’re receiving a blood transfusion and why

A

pts with lymphoma need irradiated blood to prevent graft-versus-host disease

148
Q

which clothing factors are reduced in pts on warfarin

A

factors 2, 7, 9 , 10
and prothrombin agents protein C and S

149
Q

pt on blood transfusion develops itchiness but obs are all stable
most appropriate initial action?

A

stop the transfusion (monitor to see if they develop anaphylaxis)
and give antihistamine (chlorphenamine)

150
Q

what is slapped cheek syndrome

A

aka eryhtema infectiosum
red cheeks due to parvovirus B19

151
Q

what is done to coffin a diagnosis of aplastic anaemia

A

bone marrow biopsy
- will show that bone marrow contains fewer blood cells of all lineages that normal

152
Q

what ix is done for a patient with a gradually growing rubbery painless palpable lymph node

A

excisional lymph node biopsy
this allows you to see the full architecture of the lymph node and grade the lymphoma, so its better than FNA

153
Q

which prophylactic abx should be taken by splenetcomy pts

A

penicillin or amxocillin

154
Q

what does stage 3 B mean in Ann arbor lymphoma staging

A

lymph nodes affected on both sides of the diaphragm (ie above and below)
and patient has B symptoms (fever, night sweats, weight loss)

155
Q

which type of leukaemia causes massive splenomegaly

A

CML

156
Q

pt has weight loss and night sweats
massive splenomegaly
and raised white cell count
diagnosis?

A

CML

157
Q

what type of leukaemia do granulocytes indicate

A

CML

158
Q

lifespan of platelet

A

7-10 days

159
Q

which lymphoma is characterised by the presence of atypical lymphoid cells with an irregular nucleus and a high mitotic rate on biopsy

A

Non-Hodgkin’s lymphoma

160
Q

what condition causes dark urine in the mornings, fatigue. anaemia, elevated LDH and low haptoglobin

A

PNH (Paroxysmal nocturnal haemoglobinuria)
(classic triad of PNH includes haemolytic anaemia, thrombosis, and pancytopenia)

161
Q

which condition are smudge/smear cells seen in

A

CLL

162
Q

what is an aplastic crisis

A

parvovirus B19 IN SICKLE CELL PTS can cause sudden severe anaemia as it inhibits erythropoiesis

163
Q

a pt has pancytopenia and lethargy and weight loss
next investigation?

A

blood film

164
Q

what is the fifth disease

A

another word for erythema infectiosum (slipped cheek syndrome caused by parvovirus B19)

165
Q

what type of lymphoma can reveal uniform densely packed follicles with loss of nodal architecture biopsy

A

non hodgkin

166
Q

for which type of lymphoma is raised LDH a poor prognostic marker

A

non hodgkin

167
Q

for which type of lymphoma is the Lymphocyte-depleted sub-type a poor prognostic marker

A

Hodgkin

168
Q

child with bleeding gums, recurrent infection, petechiae and feels tired and pallor
diagnosis

A

This combination of lethargy and pallor suggest anaemia, easy bruising and bleeding suggests low platelets, the sore throat suggests susceptibility to infection. This could indicate a leukaemia and the child should be referred to paediatrics urgently

169
Q

what should be done if pt presents with temp shortly after you start a blood transfusion for them, but have no other symptoms and what is going on with them

A

they have a febrile non-haemolytic transfusion reaction

this doesn’t mean they’re having a reaction to the blood. the transfusion should be slowed down and they should be given an antipyretic eg paracetamol and monitored

170
Q

in which conditions are target cells found

A

thalassemia
liver disease
hyposplenism
haemoglobin C disorders

171
Q

what type of reaction is happening to someone who develops abdo pain, riggers, fever, hypotension and tachycardia a few minutes after start of blood transfusion

A

acute haemolytic reaction
(due to ABO incompatibility)

172
Q

which monoclonal antibody can be used to treat non Hodgkin lymphoma

A

rituximab

173
Q

what can rasburicase be used for

A

can be prescribed to protect against urate build up and tumour lysis syndrome and works by converting uric acid into allantoin to prevent hyperuricaemia

174
Q

what is the fired symptom of myelofibrosis

A

fatigue

175
Q

what are pencil poikilocytes associated with

A

iron deficiency anaemia

176
Q

for which condition is flow cytometry of CD55 and CD59 the gold standard diagnostic test for

A

PNH (Paroxysmal nocturnal haemoglobinuria)

177
Q

what med is used in the acute management of tumour lysis syndrome

A

rasburicase

178
Q

what is used preventionn of tumour lysis syndrome

A

allopurinol
hydration

179
Q

what factors are involved in the intrinsic pathway - if APTT is prolonged

A

8, 9, 11, 12

180
Q

what factors are involved in the extrinsic pathway - if PT is prolonged

A

3, 7

181
Q

what factors are involved in the common pathway

A

1, 2, 5, 10, 13

182
Q

which is more common, haemophilia A or B

A

A

183
Q

what is Antiphospholipid syndrome

A

autoimmune
body produces anti phospholipid antibodies
increases risk of developing blood clots

184
Q

what is a common type of anaemia to get after bariatric surgery

A

iron deficiency anaemia

185
Q

what is the BCR-ABL gene associated with

A

CML

186
Q

which condition is associated with JAK2 mutation and persistently elevated haematocrit

A

polycythaemia vera

187
Q

what are Heinz bodies and bite cell very typical of

A

G6PD deficiency

188
Q

what type of colour/size are the RBCs in sickle cell anaemia

A

normochormic normocytic

189
Q

what type of colour/size are the RBCs in anaemia of chronic disease

A

normochormic normocytic

190
Q

platelet levels in DIC

A

low - thrombocytopenia - as they’re being used up in the clotting

191
Q

what condition does raised D dimer suggest

A

DIC

192
Q

pt had sepsis and develops epistaxis, haemoptysis, melaena and bleeding from his cannula site
diagnosis

A

DIC

193
Q

what condition are hypersegmented neutrophils a diagnostic feature of

A

megaloblastic anaemia

194
Q

what does INR measure

A

compares prothrombin time (PT) for the patient to the average PT

195
Q

what condition are shistocytes indicative of

A

DIC

196
Q

levels of D-dimer Hb, platelets and PT/APTT in DIC?

A

raised D-dimer
prolonged PT / APTT (due to the consumption of coagulation factors)
low platelets
low Hb

197
Q

what is methylmalonic acid

A

a measure of functional B12 status

198
Q

what do cabot rings on blood film suggest

A

megaloblastic anaemia / pernicious anaemia

199
Q

if there’s no improvement in Hb level after taking iron for “x” months too can start additional work-up for the underlying cause of the iron deficiency

A

3 months

200
Q

what is facial plethora

A

excessive blood flow to the face - red and round face

201
Q

which condition is ichting after a hot bath classically associated with

A

polycythaemia vera

202
Q

megaloblastic anaemia vs macrocytic anaemia and causes

A

megaloblastic:
large nucleated RBC precursors
eg pernicious anaemia

macrocytic anaemia
enlarged RBCs
eg chronic alcoholism, liver disease

203
Q

what type of anaemia is hypothyroidism associated with

A

non-megaloblastic macrocytosis

204
Q

what type of anaemia is liver disease associated with

A

non-megaloblastic macrocytosis

205
Q

what type of anaemia is chronic alcoholism associated with

A

non-megaloblastic macrocytosis

206
Q

asthma symptoms in 25 year ld and a rash on her ankles, with increased eosinophil count
diagnosis

A

Eosinophilia with granulomatosis and polyangiitis

207
Q

what antibodies are present in pernicious anaemia

A

Autoantibodies against intrinsic factor (IF)
(not against vit B12)

208
Q

what type of anaemia does folate deficiency cause

A

megaloblastic anaemia

209
Q

how does alcohol affect anaemia risk

A

non megaloblastic macrocytic sideroblastic anaemia

210
Q

what is a big cause of (warm) autoimmune haemolytic anaemia

A

SLE

211
Q

what is an isolated rise in APTT indicative of

A

von willebrand disease

212
Q

viral illness followed by rash and reduction in platelets
diagnosis

A

Immune thrombocytopenia (ITP)

213
Q

bone marrow failure and ring sideroblasts on bone marrow biopsy
what condition de this indicate

A

myelodysplasia
(Myelodysplasia is considered a “premalignant” disease that affects myeloid cells, which has around a 30% chance of developing into AML)

214
Q

which anaemia can follow treatment with antibiotics for a UTI

A

Nitrofuratonin can trigger haemolytic crisis in G6PD - causing anaemia

215
Q

what is hydroxycarbamide used for in sickle cell

A

long-term prevention of acute chest crises

216
Q

what is the cause of red/brown macule on legs in a pt with beta thalassemia major

A

haemosiderosis
(deposition of iron in the skin due to the regular blood transfusion they receive for their thalassemia)

217
Q

name 4 main features of HSP (Henoch-Schoenlein purpura)

A

palpable purpuric rash on extensor surfaces of lower limbs
abdo pain
polyarthirtis
IgA nephropathy

218
Q

what type of cell would increase in a fungal infection

A

eosinophils

219
Q

pt has hypersegmented neutrophils and complains that they cant feel their legs
diagnosis

A

B12 deficiency anaemia - and the B12 deficiency causes subacute degeneration of the spinal cord which causes the neurological symptoms the pt is experiencing

220
Q

pt presents with bleeding, normal platelets, normal PT, prolonged APTT
what are the two differentials and how to differentiate between them

A

—> if deep pattern of bleeding eg haemarthrosis and muscular haematomas
= haemophilia A
—> if platelet-pattern of bleeding eg cutaneous petechiae/purpura, epistaxis, mucosal bleeding
= von willebrand disease

221
Q

management of warm vs cold haemolytic anaemia

A

warm - prednisolone
cold - plasmapheresis (warmed blood is transfused)

222
Q

are spherocytes vs schistocytes more likely to be seen in warm or cold AIHA

A

warm - spherocytes
cold - shistocytes

223
Q

which antibodies mediate warm vs cold AIHA

A

warm -IgG mediated
cold - IgM mediated

224
Q

most common cause of warm vs cold AIHA

A

warm - SLE
cold - post infectious (after Mycoplasma or EBV)

225
Q

what is the only medication used for prophylaxis of sickle cell crises

A

hydroxycarbamide aka hydroxyurea

226
Q

does intravascular or extravascular haemolytic cause red-brown urine discolouration

A

intravascular haemolysis

227
Q

short stature, webbed neck, widely spaced nipples and has recurrerent haemarthrosis and family history of bleeding disorder
most likely diagnosis

A

tuners syndrome and haemophilia A
(in tuners syndrome, which only affects females, you only have one X chromosome, so can get haemophilia with only one chromosome instead of two)

228
Q

what type of anaemia does hypothyroidism cause

A

macrocytic anaemia

229
Q

tx for pernicious anaemia in pt with neurological symptoms

A

Hydroxocobalamin 1mg on alternate days for two weeks followed by lifelong injections every two months

230
Q

tx for patents with dietary B12 deficiency

A

Cyanocobalamin 50 micrograms daily

231
Q

A 20-year-old male presents with a microcytic hypochromic anaemia and an elevated haemoglobin A2 level on electrophoresis.

What is the most likely diagnosis?

A

Beta-thalassemia trait

232
Q

what type of anaemia can be caused by lead poisoning

A

sideroblastic anaemia

233
Q

pt is displaying neurological symptoms and has microcytic anaemia but raised serum iron/ferritin
diagnosis?

A

sideroblastic anaemia

234
Q

what is the most common hereditary thrombophilia

A

factor V Leiden

235
Q

what type of bilirubin is raised in haemolytic anaemia

A

unconjugated bilirubin

236
Q

symptoms of anaemia, jaundice and blood film showing shistocytes
what’s going on

A

haemolytic anaemia

237
Q

what condition are anti-cardiolipin and anti-beta2 glycoprotein antibodies associated with

A

antiphospholipid syndrome

238
Q

most likely diagnosis in a person who presents with sudden onset Sob and pleuritic chest pain (signs of pulmonary embolism) with a family history but is otherwise all well and no PMH
and what would the likely diagnosis be instead if they’ve had recurrent miscarriages

A

factor V Leiden (most common hereditary thrombophilia)

antiphospholipid syndrome - if have had arterial or venous thrombosis and recurrent miscarriage

239
Q

what are acanthocytes and what is a common cause of them

A

RBCs with projections coming out of their surface
common cause is severe liver disease

240
Q

which cell is often caused following a traumatic event such as surgery

A

neutrophils - neutrophilia

241
Q

microcytic / normocytic anaemia with low serum iron and normal serum ferritin
diagnosis

A

anaemia of chronic disease (The main feature of this type of anaemia is a decreased production of red blood cells, and it is often characterised by a low serum iron and normal/high serum ferritin)

242
Q

what are the symptoms of multiple myeloma

A

CRABI → Calcium (High), Renal Impairment, Anaemia, Bone Pain, Infections

243
Q

what would you see on the blood film of someone with back pain, polyuria and GI upset

A

Rouleax formation
(they have multiple myeloma)

244
Q

levels of serum iron, ferritin and transferrin saturation in anaemia of chronic disease?

A

Low serum iron, high ferritin and low transferrin saturation

245
Q

which condition encompasses arterial or venous thrombosis and recurrent miscarriages

A

antiphospholipid syndrome

246
Q

pt presents with bloody diarrhoea, intravascular haemolysis, thrombocytopenia and renal/cerebrovascular involvement
diagnosis?

A

haemolytic uraemia syndrome
- caused by E coli

247
Q

burr cells vs acanthocytes, appearance and cause

A

acanthocytes
- spicules vary in length and width
- project non uniformly from cell surface
- severe liver disease

Burr cells
- regularly spaced, smoothly rounded projections
- pyruvate kinase deficiency, kidney disease

248
Q

if a pt is deficient inB12 and folate, do you replace one of them first or together?

A

B12 first, then folate
bc B12 deficiency can cause subacute degeneration of spinal cord
and folate metabolism requires B12 so it will use it up putting them at more risk of spinal cord degeneration

249
Q

what condition causes frontal bossing (prominent forehead)

A

haemophilia B

250
Q

describe the appearance of Howell jolly bodies

A

single, peripherally located rounded icnlsuuion in the RBC

251
Q

pt has a mechanical heart valve, what would you expect to see on her blood film

A

shistocytes
(Schistocytes are fragmented red cells seen in intravascular haemolysis, such as haemolytic anaemia. They are also seen in patients with mechanical heart valves due to mechanical haemolysis of the cells)

252
Q

what does raised LDH and raised reticulocytes mean

A

haemolytic

253
Q

what does raised LDH, reticulocytes and presence of schistocytes mean

A

intravascular haemolysis

254
Q

what does raised LDH, reticulocytes and presence of spherocytes mean

A

extravascular haemolytic

255
Q

mech of action of desmopressin when used for haemophilia A

A

Releases von Willebrand factor (von willebrand factor is a carrier protein for factor 8)

256
Q

pt with beta thalessemia, her periods have stopped, she has leg swelling and shortness of breath
most appropriate tx?

A

desferrioxamine

257
Q

describe the difference between HbAS, HbSC, HbSS

A

HbAS - sickle cell. trait, no symptoms
HbSC - milder form of sickle cell disease
HbSS - sickle cell disease

258
Q

left shift vs right shift in terms of neutrophils

A

left shift =
immature neutrophils,
unlobed band like nucleus
seen in acute infection

right shift =
hyper mature neutrophils
multi lobed nucleus
seen in megaloblastic anaemia

259
Q

what is a Leukoerythroblastosis film and when is it seen

A

combination of severe left shift with the presence of nucleated red blood cells
seen in infiltrative marrow disease

260
Q

likely diagnosis if a pt develops a venous thromboembolism after being out on warfarin

A

protein C deficiency
(Protein C deficiency is a hereditary thrombophilia associated with low levels of protein C, a serum anticoagulant. Warfarin reduces production of factor II, VII, IX, X, protein C and protein S. there is a period around 1 to 2 days after initiation of warfarin therapy where patients become procoagulable)

261
Q

likely diagnosis if a pt with sickle cell disease presents with RUQ abdo pain

A

cholecystitis
(a common complication of sickle cell disease, due to sickling and sludging of red blood cells in the microvasculature of the gallbladder)

262
Q

EPO level in polycythaemia vera

A

low

263
Q

which has more risk of VTE, 2 days of bed rest or a surgery

A

surgery
(bed rest would be strong risk if was over 5 days)

264
Q

what investigation confirms diagnosis of leukaemia

A

bone marrow biopsy with immuno-phenotyping

265
Q

first line management of idiopathic autoimmune haemolytic anaemia

A

corticosteroids

266
Q

which sickle cell crisis can be triggered by the cold

A

vaso-occlusive crisis

267
Q

what is carbimazole associated with

A

causes neutropenia and agranulocytosis

268
Q

pt with sickle cell presents with sudden anaemia and a drop in reticulocyte count
diagnosis?

A

aplastic crisis

269
Q

which medications trigger G6PD

A

ciprofloxacin, sulfonylureas, sulphasalazine

270
Q

management/tx of hereditary spherocytosis

A

folate supplementation
splenectomy

271
Q

pt has SLE and has a positive direct antiglobulin test, with symptoms of breathlessness and dizziness
diagnosis?

A

warm autoimmune haemolytic anaemia

272
Q

pt has direct anti globulin test positive and hands turn white when its cold
which immunoglobulin is associated with this

A

IgM (cold AIHA)

273
Q

haemolytic anaemia, thrombocytopenia and neurological features, normal PT/APTT
which condition does this suggest

A

TTP (thrombotic thrombocytopenic purpura)

274
Q

what is ADAMTS-13 deficiency the same as

A

TTP (thrombotic thrombocytopenic purpura)

275
Q

which blood cells can prednisone cause a rise in

A

neutrophils - can cause neutrophilia

276
Q

headaches, itching in hot baths/showers, facial plethora, arterial/venous thrombosis
what do these symptoms suggest

A

polycythaemia

277
Q

what condition are ANK1 mutations found in

A

hereditary spherocytosis

278
Q

which condition causes increase in platelets - thromboctytosis

A

essential thrombocytosis

279
Q

if a pt with SCD presents with sudden drop in Hb, what do you need to measure

A

reticulocytes, this will inform you if there is an appropriate response to the haemoglobin drop

year 3 conditions (17 decks)

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