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Phase 2a > haematology conditions > Flashcards

haematology conditions Flashcards

1
Q

what is haemoglobin below in anaemia

A

haemoglobin below lower limit of normal

F= 110-147g/L
M=131-166g/L

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2
Q

what does MCH mean

A

MCH= mean cell haemoglobin- amount of haemoglobin in each cell

hypochromic= less haemoglobin than normal
normochromic= normal amount of haemoglobin in each cell (27-33pg)

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3
Q

what does MCV stand for and how is anaemia classified based on cell size

A

MCV= mean cell (corpuscular) volume

microcytic (smaller than norm)=iron deficiency, thalassemia, sideroblastic

normocytic (norm=80-98fl)= sickle cell, G6PDH deficiency, hereditary spherocytosis, autoimmune haemolytic, malaria, non-haemolytic

macrocytic (larger than norm)= folate deficiency, B12 deficiency, haemolysis, bone marrow disorders

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4
Q

name four types of microcytic anaemia

A

iron deficiency
sideroblastic
alpha thalassaemia
beta thalassaemia

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5
Q

name 6 types of normocytic anaemia

A

autoimmune haemolytic
G6PDH
hereditary spherocytosis
malaria
sickle cell
non-haemolytic anaemia

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6
Q

name 2 types of macrocytic anaemia

A

B12 deficiency (pernicious anaemia)
Folate deficiency

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7
Q

how much iron does an average adult require per day and where is it absorbed

A

15mg/day, approx 1mg/day absorbed- needed for haemoglobin synthesis

absorbed in duodenum + upper jejunum

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8
Q

what kind of anaemia is iron deficiency

A

microcytic anaemia, size of RBCs= <80
-most common anaemia

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9
Q

what is iron bound to when it is a. stored and b. transported in the blood to tissues

A

iron is stored as Fe 2+ bound to ferritin
-converted to Fe3+ and carried by transferritin in blood

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10
Q

causes of iron deficiency anaemia

A

blood loss via: heavy periods, GI blood loss (H.pylori infection), hookworm

dietary insufficiency- children + vegetarians

poor iron absorption= coeliac disease/IBD, gastric surgery resulting in less HCl production

increased iron requirements, eg pregnancy, growth in children

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11
Q

pathology of iron deficiency anaemia

A

iron molecule required for O2 binding in haemoglobin (check iron notes)
- therefore iron deficiency = impaired haemoglobin production

not enough haemoglobin 4 normal sized RBC> bone marrow pumps out microcytic, hypo chromic (pale) RBCs

microcytic RBCs can’t carry enough O2 to tissues= hypoxia > signals bone marrow 2 increase RBC production> bone marrow pumps out incomplete RBCs

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12
Q

presentation of iron deficiency

A

kolionychia (spoon-shaped nails)
atrophic glossitis (enlarged tongue)
angular stomatitis (dry skin, ulceration @ mouth corners)
pica (eating things which aren’t food)

hair loss
restless leg syndrome
gastric stricture

general anaemia:
-fatigue
-pallor
-shortness of breath
-palpitations
-chest pain
-tachycardia
-exertional dyspnoea

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13
Q

investigations for iron deficiency

A

FBC: low MCV + MCHC + Hb

blood film =microcytic hypochromic RBCs

Fe studies:
serum Fe-low
serum ferritin- low
TIBC= (high)- used as marker for how much transferrin Is in the blood
high transferritin

bone marrow biopsy- absent iron stores

endoscopy if 60 + (look at cause of GI bleeding)

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14
Q

management of iron deficiency

A

treat underlying cause

oral iron supplements- ferrous sulphate
side effects= nausea, diarrhoea, constipation

IV iron if oral poorly tolerated (ferric gluconate)
blood transfusion if severe

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15
Q

define sideroblastic anaemia

A

anaemia characterised by smaller than normal RBCs due to impaired haemoglobin production

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16
Q

what kind of deficiency causes sideroblastic anaemia and what do the RBCs look like

A

X linked ALA synthase deficiency
-causes bone marrow to produce ringed sideroblasts

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17
Q

investigations for sideroblastic anaemia

A

FBC + blood film= microcytic with ringed sideroblasts + basophilic stippling

Fe studies= increased serum Fe, high ferritin, high transferritin, low TIBC

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18
Q

what is folate deficiency anaemia (include type)

A

anaemia caused by folate (vit B9) deficiency

macrocytic megaloblastic anaemia- <95

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19
Q

causes of folate deficiency

A

malnutrition
malabsorption
increased demand (pregnancy)
drugs/toxins (methotrexate)

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20
Q

risk factors for folate deficiency

A

elderly
poverty
alcoholic
pregnant
Crohn’s or coeliac disease

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21
Q

how much folate is required per day and where is it absorbed

A

0.1-0.2 mg/day required
absorbed in proximal jejunum

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22
Q

pathology of folate deficiency

A

folate= required for DNA/RNA synthesis

DNA impairment will have largest affect on bone marrow since it’s most active in cell division- leading to pancytopenia
-in response, bone marrow releases megaloblasts
-megaloblast= not good at carrying O2, can get stuck in BM, destroyed early

other rapidly dividing cells affected, eg epithelial cells in tongue, prevents healing (glossitis)

can cause neural tube defects- spina bifida

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23
Q

presentation of folate deficiency

A

angular stomatitis
glossitis
symptoms of ischaemic heart disease or stroke

general anaemia:
pallor
fatigue
chest pain
shortness of breath
palpitations

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24
Q

investigations for folate deficiency

A

FBC- high MCV
blood film- macrocytic, megaloblastic RBC, HYPERSEGMENTED NEUTROPHILS
vit B12 levels = normal

serum + RBC folate levels= low
GI investigations

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25
Q

management of folate deficiency

which foods contain folate

A

treat underlying cause

folic acid supplements- always give alongside B12, folic acid supplements + B12 deficiency can cause neurological disease

fortifying foods= grains, cereals, green veg

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26
Q

what are normal B12 levels and where is it found + absorbed

A

normal B12= 197-771ng/L

exclusively found in animal derived products: meat,, fish, eggs dairy

absorbed in ileum- must bind 2 intrinsic factor produced by gastric parietal cells

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27
Q

what kind of anaemia is B12 deficiency

A

macrocytic megaloblastic anaemia

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28
Q

causes of vit B12 deficiency

A

lack of B12 in diet (veganism)
pernicious anaemia
malabsorption eg Crohn’s
inadequate release of B12 from food eg gastritis, alcohol abuse
zollinger-ellison syndrome

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29
Q

pathology of vit B12 deficiency

A

vit B12 (cobalamin)= essential 4 DNA synthesis in cells undergoing rapid proliferation
-therefore bone marrow is affected- pancytopenia >bone marrow compensates by producing macrocytic megabalstic RBCs

B12 keeps levels of methylamonic acid low (can cause neurological damage):
-peripheral neuropathy
-subactue degeneration of the cord
-focal demyelination

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30
Q

describe pernicious anaemia

A

vit B12 deficiency as a result of autoimmune destruction of the gastric epithelium- due to antibodies against parietal cells or intrinsic factor which prevent absorption of B12

overtime patients with PA develop gastric inflammation, which may lead to gastric atrophy

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31
Q

presentation of vit B12 deficiency

A

general anaemia=
pallor
fatigue
palpitations
shortness of breath
tachycardia
chest pain

glossitis
lemon-yellow skin

CNS involvement:
personality change
depression
memory loss
visual disturbances
paraesthesia
ataxia
loss of vibration or sense of proprioception
bladder/bowel dysfunction

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32
Q

investigations for vit B12 deficiency

what is positive in pernicious anaemia

A

FBC=
raised MCV
blood film- megaloblastic anaemia + hyper segmented polymorphonuclear cells

gold=
serum B12- decreased
pernicious anaemia: both intrinsic factor antibody + gastric parietal cell antibody positive

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33
Q

management of vit B12 deficiency

and pernicious anaemia

A

for dietary deficiency- oral B12 (cyanocobalamin)
for pernicious anaemia- oral = inadequate because problem is absorption- B12 injections, 1mg IM hydroxocobalamin 3x weekly for 2 weeks

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34
Q

define alpha thalassemia

A

autosomal recessive defect causing a deficiency in the production of alpha globin chains of haemoglobin

microcytic anaemia (MCV<80)

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35
Q

risk factors for alpha thalassemia

A

FHx
Middle Eastern, south asian, African decent

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36
Q

causes of alpha thalassemia

A

AT= autosmal recessive therefore needs 2 genes to cause disease
-either partial or complete deficiency on alpha globin chains due to mutations in 4 alpha genes on chromosome 16
-usually deletion

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37
Q

pathology of alpha thalassemia with 1 and 2 defective alpha genes

A

1 defective alpha gene= silent carrier

2 defective alpha genes= alpha thalassemia minor (can be either cis or trans mutation) - mild symptoms

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38
Q

pathology of alpha thalassemia with 3 defective genes

A

3 defective genes= Haemoglobin H disease (HbH)
-unable to form alpha chains- excess of beta chains

beta chains clump together 2 form tetramers (HbH)
HbH= causes hypoxia through haemolysis + have a high affinity for O2 so don’t release it to tissues

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39
Q

pathology of alpha thalassemia with 4 defective genes

A

4 defective genes= Hb Barts
-people with 4 gene deletions die in utero because gamma chains form tetramers>v high affinity with O2>tissues get no O2 therefore severe hypoxia> high output cardiac failure + massive hepatosplenomegaly >oedema all over body- hydros fetalis

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40
Q

investigations for alpha thalassemia

1st + GOLD

A

1st= FBC
-low Hb
-low MCV

blood film= microcytic, hypo chromic RBCs, TARGET CELLS look like BULLSEYES, golf-ball like RBCs, RBC count increased

gold=
Hb electrophoresis (diagnostic)- looks for presence of HbH and Hb Bart

DNA testing for genetic abnormality

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41
Q

management of alpha thalassemia

A

1st= blood transfusions
iron chelation 2 prevent iron overload
folate supplementation
splenectomy
stem cell transplant

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42
Q

complications of alpha thalassemia

A

iron overload- due 2 regular transfusions
pregnancy comps
osteopenia
hypersplenism

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43
Q

define beta thalassemia

A

autosomal recessive defect leading to a deficiency in the production of B-globin chains of haemoglobin

microcytic anaemia (MCV <80)

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44
Q

risk factors for beta thalassemia

A

mediterranean, africa and south East Asian
FHx

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45
Q

mutations causing beta thalassemia

describe minor, intermedia and major B thalassemia

A

BT caused by either partial or complete beta-haemoglobin chain deficiency due to point mutation in beta-globin gene on chromosome 11

autosomal recessive= 2 mutations needed to develop disease

1 gene mutation codes for reduced/absent beta-globin production= beta thalassemia minor (carrier)

2 genes that code for reduced beta-globin chains= beta thalassemia intermedia (marked anaemia)

2 genes that code for absent beta-globin chains= beta thalassemia major (severe anaemia)

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46
Q

pathology of beta thalassemia

A

beta globin chain deficiency causes accumulation of free alpha-globing chains in RBCs > damages RBC cell membrane > causes haemolysis in bone marrow or destruction of RBCs in spleen

haemolysis leads 2 hypoxia as there are fewer RBCs to carry oxygen- signals bone marrow + liver + spleen to increase RBC production> causes enlargement of these organs

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47
Q

presentation of beta thalassemia

A

minor=asymptomatic
major= symptoms appear in 1st year of life bc foetal haemoglobin is still used in early months

hepatosplenomegaly
jaundice
chipmunk facies
swollen abdomen
bone abnormalities
low weight + height

general anaemia symptoms

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48
Q

investigations for beta thalassemia

including gold

A

1st=
FBC- low Hb, low MCV
blood film- microcytic hypochromic RBCs
-target cells= small RBCs that look like bullseyes
reticulocytosis

gold=
Hb electrophoresis- low HbA, high HbF + HbA2

x-ray- ‘hair on end’

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49
Q

management of beta thalassemia

A

1st= recurrent blood transfusions for major and intermedia with worse symptoms

iron chelation (deferoxamine) 2 prevent iron overload
splenectomy
ascorbic acid- increases iron excretion
consider stem cell transplant

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50
Q

complications of beta thalassemia

A

iron overload
leg ulcers
gallstones

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51
Q

define sickle cell anaemia

A

autosomal recessive mutation in the beta chain of haemoglobin resulting in sickle shaped RBCs and haemolysis

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52
Q

what type of anaemia is sickle cell anaemia

A

normocytic haemolytic anaemia
MCV= 85-95, RBCs are destroyed faster than they are made

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53
Q

epidemiology of sickle cell anaemia

A

most common in sub-saharan Africa due 2 its advantage against p. falciparum (i.e protective against malaria)

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54
Q

risk factor for sickle cell anaemia

4 triggers of sickling

A

family history- autosomal recessive
triggers of sickling=
dehydration
acidosis
infection
hypoxia

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55
Q

cause of sickle cell anaemia

A

single point mutation in the beta-globin gene causing amino acid replacement at the 6th codon from glutamic acid to valine- changes the structure of the beta chain

1 mutation= sickle trait (carrier)- no health problems unless exposed 2 extreme conditons eg altitude or dehydration

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56
Q

pathology of sickle cell anaemia

A

sickle cell disease patients have abnormal HbS isoform consisting of 2 alpha + 2 abnormal beta chains

under physiological stress, eg hypoxia, sickled HbS polymerises, distorting RBC into sickle shape > deformed RBCs can cause vast-occlusion or slow blood flow

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57
Q

what are stressors inducing sickling in sickle cell disease patients

A

hypoxia
acidosis
infection
cold temps
dehydration

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58
Q

what does repeated sickling of RBCs do

A

damages the RBC membrane + promotes premature haemolysis- causing anaemia
bone marrow + liver compensate for haemolysis by producing more RBCs >causes bone deformities and hepatomegaly

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59
Q

presentation of sickle cell anaemia

A

chronic symptoms:
pain
general anaemia symptoms
related to haemolysis: jaundice and gallstones

symptoms due 2 crisis-
splenic sequestration crisis
vaso-occlusive crisis
acute chest crisis

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60
Q

describe a splenic sequestration crisis

A

splenic sequestration crisis= RBCs sickle `= block blood flow out of spleen- blood remains in spleen causing- splenomegaly (enlarged and painful spleen)

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61
Q

describe vaso-occlusive crisis

A

vaso-occlusive crisis= sickled RBCs block capillaries blood flow to bones, dactylitis- swelling and pain of hands + feet, pain crisis, avascular necrosis of bones

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62
Q

describe acute chest crisis

A

acute chest crisis= pulmonary vaso-occlusion causing fever, cough, dyspnoea, hypoxia, respiratory distress

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63
Q

investigations for sickle cell anaemia

A

primary=
screening- Guthrie heel prick test @ 5 days
FBC-anaemia
blood film: reticulocytosis,Hb 60-80g/L, increased RBCs, sickled cells, Howell-Jolly bodies, sickle cell solubility test (positive)

gold=
haemoglobin electrophoresis- sickle cell= presence of HbS,
no HbA
sickle trait= HbA + HbS

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64
Q

acute management of sickle cell anaemia

A

IV fluids and O2
antibiotics (chest crisis or infection)
NSAIDs for bone pain

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65
Q

long term management of sickle cell anaemia

A

avoid precipitating factors
pain management
hydroxycarbamide- increases levels of HbF- protective against sickling

lifelong phenoxymethylpenicillin due 2 risk of infection due 2 hyposplenism + autosplenectomy
blood transfusion + iron chelation to prevent iron overload
stem cell transplant

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66
Q

define autoimmune haemolytic anaemia

including type of anaemia

A

normocytic haemolytic
autoantibodies target + cause haemolysis of RBCs

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67
Q

what are warm and cold autoimmune haemolytic anaemia each mediated by

A

WARM weather= Great, IgG
COLD weather= miserable, IgM

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68
Q

what test is positive in autoimmune haemolytic anaemia

A

Coombs test= positive

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69
Q

management of warm + cold autoimmune haemolytic anaemia

A

warm=
prednisolone
immunosuppressants
blood transfusions if severe

cold=
supportive tx
warm blood transfusion
rituximab (in resistant cases)

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70
Q

define G6PD deficiency (including type of anaemia)

A

normocytic anaemia
x linked recessive condition- G6PD enzyme protects RBCs from reactive oxygen species from damaging them + causing haemolysis

anaemia occurs because nothing is stopping ROS from haemolysing RBCs

71
Q

what is produced when free radicals attack haem molecules in G6PD deficiency

A

Heinz bodies

72
Q

name 4 precipitating factors for G6PD deficiency

A

fava beans
pesticides
antimalarials
aspirin

73
Q

investigations for G6PD deficiency

A

FBC=
norm btwn attacks
attack- normocytic, normochromic, w. increased reticulocytes
presence of HEINZ BODIES + BITE CELLS

74
Q

management of G6PD deficiency

A

avoid precipitating factors
severe attack= blood transfusions

75
Q

define hereditary spherocytosis (including type of anaemia)

A

normocytic anaemia
autodom condition
- deficiency in structural membrane proteins spectrin or ankyrin> causes RBCs to become spherical shaped and will be more easily destroyed by spleen

76
Q

signs of hereditary spherocytosis

A

gen anaemia
neonatal jaundice
splenomegaly
gallstones

77
Q

investigations and management for hereditary spherocytosis

A

FBC + blood film= normocytic, normochromic, high reticulocytes + SPHEROCYTES

coombs= negative

Tx=
splenectomy- wait until at least 6 y/o (spleen fights off encapsulated bacteria

78
Q

name 2 types of non haemolytic normocytic anaemias

A

CKD- anaemia of chronic disease

aplastic anaemia- pancytopenia where bone marrow fails

FBC for both= normocytic w. decreased reticulocytes

79
Q

what type of anaemia is malaria

A

normocytic

80
Q

what kind of mosquito causes malaria and what are the four types of parasites they can carry

A

female anopheles mosquito carries:
plasmodium falciparum
plasmodium ovale
plasmodium vivax
plasmodium malariae

81
Q

describe the pathology of malaria

A
  1. infected blood from mozzy injected as sporozoites when person bitten
  2. sporozites travel to liver + mature 2 merozites
  3. merozites enter blood + infect RBCs
  4. merozites mature into > trophozoites > schizonts > new merozites
  5. RBCs rupture causing systemic infection + haemolytic anaemia
82
Q

presentation of malaria

A
  • fever w sweats and rigors + exotic travel
  • n+v
  • myalagia (musc aches)
  • headaches
    (black water fever esp)
  • anaemia Sxs
  • jaundice
  • hepatosplenomegaly
83
Q

investigations for malaria (including what is needed to exclude malaria)

A

FBC, U&E, LFT= normocytic, normochromic, thrombocytopenia, elevated LDH

malaria blood film- shows type of parasite + concentration

to exclude malaria:
x3 negative samples over 3 consecutive days

84
Q

management of malaria (uncomplicated & complicated)

A
  1. uncomplicated= Artemether with lumefantrine (Riamet) is the usual first choice
  2. Quinine plus doxycycline
  3. Quinine plus clindamycin

Primaquine (can cause severe haemolysis in patients with G6PD deficiency)

complicated (severe)= IV artesunate

85
Q

define HIV

A

human immunodeficiency virus= a retrovirus that primarily affects CD4+ T helper lymphocytes resulting in the progressive destruction of the immune system and the onset of acquired immunodeficiency syndrome (AIDS)

86
Q

epidemiology of HIV

A

2 strains of HIV exist: HIV-1 & HIV-2
HIV-1 predominant in UK
HIV-2 predominant in west africa

uk successfully reached 90-90-90 target

87
Q

causes of HIV

A

virus transmission:
sexual- bodily fluids during intercourse

parenteral- via needle stick or needle stick sharing

vertical- via breastfeeding or vaginal delivery

88
Q

which cells have CD4 molecules

A

macrophages, t-helper cells, dendritic cells= all involved in immune response + have CD4 molecules so can be targeted by HIV

89
Q

pathology of HIV

A

HIV attaches to CD4 via gp120 on its envelope and uses gp120 to attach to another co-receptor (either CXCR4 or CCR5)
-endocytosis of HIV RNA + reverse transcriptase + other viral proteins into cell

-reverse transcriptase converts HIV RNA to DNA

-viral DNA transported across nucleus + integrates into host DNA

-new viral DNA used as a genomic RNA for viral protein synthesis

-new HIV proteins & HIV RNA move to cell membrane and assemble a new, immature HIV

-new HIV virion exits the cell and viral protease forms mature, infectious HIV

90
Q

what are the 4 phases of infection of HIV

A
  1. acute infection- rapid viral reproduction, symptoms in 60-80% of patients, antibodies become detectable
  2. chronic (latency phase)- symptoms from acute phase resolve and viral load reduces, no Sxs just enlarged lymph nodes
  3. long-standing HIV, patient may develop opportunistic infections + non-AIDS defining Sxs
  4. late stage HIV- AIDS- CD4 count drops <200/mm^3 , dramatic increase in viral load + development of AIDS- defining illnesses
91
Q

presentation of acute HIV (seroconversion)

A

asymptomatic or flu-like illnesses:
mouth ulcers
lymphadenopathy
fever
maculopapular rash
malaise
diarrhoea
sore throat

92
Q

presentation of clinical latency + long standing HIV

A

Clinical latency= asymptomatic + enlarged lymph nodes

Long-standing HIV=
opportunistic infections-
eg thrush, shingles, oral hairy leukoplakia, molluscum contagiosum
+
non-AIDS defining Sxs eg fever, night sweats, diarrhoea, wt. loss, cough

93
Q

presentation of AIDS

A

CD4 <200:
cytomegalovirus (CMV)
pneumocystis pneumonia (PCP)
kaposi’s sarcoma
candidiasis
TB
lymphoma
cryptosporidium fungal infection

weight loss
fever
diarrhoea
cough
nigh sweats

94
Q

investigations for HIV

A

take venous blood sample: ELISA (4th gen test) to detect antibodies against HIV-1 & HIV-2 and to detect p24 antigen

to confirm initial diagnostic positive:
repeat combined HIV antibody and p24 test
OR
western blot= detects p24 antigen, gp120 and gp41 antibodies

(only positive tests 45 days after exposure= relaible for diagnosis)

@home point of care testing kits

monitoring=
CD4 T-cell count- indicates immune status with CD4 <200/MM^3 defining AIDS
viral load - can be used for diagnosis

95
Q

initial management of HIV

A

all patients should start with antiretroviral therapy (ART)- aims to achieve normal CD4 count + undetectable viral load

initial management=
2 NRTIs (e.g., tenofovir plus emtricitabine) plus a 3rd agent (e.g., bictegravir).

96
Q

what are the five classes of ARTs

A

-Protease inhibitors (PI)
-Integrase inhibitors (II)
-Nucleoside reverse transcriptase inhibitors (NRTI)
-Non-nucleoside reverse transcriptase inhibitors (NNRTI)
-Entry inhibitors (EI)

97
Q

additional management of HIV

A

prophylactic co-trimoxazole: given 2 patients with CD4 <200/mm^3 to protect against pneumocystis jirovecii pneumonia

post exposure prophylaxis

close monitoring and management of cardiovascular risk

yearly cervical smears

vaccinations

advise use of condoms

98
Q

what is a normal CD4 range and what is the CD4 count in AIDS

A

normal CD4 range= 500-1200 cells/mm3
CD4 <200= AIDS

the lower the CD4 count- the higher the risk of opportunistic infection

99
Q

complications of HIV

A

opportunistic infections eg AIDS-defining illness
drugs side effects
immune reconstitution inflammatory syndrome (IRIS)

100
Q

what is leukaemia

A

neoplastic proliferation of WBC line (cancer of WBCs -myeloblast/lymphoblast)
- results in decreased production of other haematopoetic cells= functional pancytopenia

101
Q

what are general presentations of leukaemia

A

bone marrow failure= bone pain + bleeding (thrombocytopenia)
infections (leukopenia) + anaemia symptoms

  • gum infections
  • recurrent infections
  • hepatosplenomegaly
  • petechiae (pinpoint round spots)
  • ecchymosis (bruise caused by blood leaking from broken vessels)
  • anaemia
102
Q

what is acute myeloid leukaemia (AML)

A

malignant neoplastic disease of WBCs, causing proliferation of myeloblast cells

103
Q

risk factors for acute myeloid leukaemia

A

cause= unknown
myelodysplastic syndrome
pre-existing haematological disorders
Down’s syndrome
gene mutation
radiation
most common in over 75s
benzene i.e painters, rubber manufacturers

104
Q

pathology of acute myeloid leukaemia

A

uncontrolled growth of the myeloid cell line in bone marrow- cause proliferation of immature, non-functional WBCs called blasts

blasts disrupt normal haematopoiesis, causes pancytopenia= reduction in RBCs (anaemia), WBCs (infection) and platelets (bleeding)

105
Q

presentation of acute myeloid leukaemia

A

gen anaemia Sxs

lymphadenopathy
fatigue
fever
failure to thrive
pallor
weight loss
dizziness

106
Q

investigations for acute myeloid leukaemia

A

FBC (pancytopenia)
blood film- high no. of myeloblasts and aurer rods
lactate dehydrogenase= raised

gold=bone marrow aspirate + biopsy
2 confirm diagnosis- >20% myeloid blasts in bone marrow or detecting myelobalsts w aurer rods

other= immunophenotyping/flow cytometry (presence of myeloid antigens on blasts)

107
Q

management of acute myeloid leukaemia

A

1st=
chemo using combo of cytarabine & daunorubicin

all-trans retinoic acid (ATRA)- used in acute promyelocytic leukaemia

supportive therapy= transfusions, antimicrobial prophylaxis, allopurinol 2 prevent tumour lysis syndrome (chemo releases uric acid from cells)

bone marrow transplant

108
Q

complications of acute myeloid leukaemia

A

secondary to chemo= tumour lysis syndrome, sepsis

AML= disseminated intravascular coagulation

109
Q

age mnemonic for leukaemias

A

ALL CeLL mates have CoMmon AMbitions

under 5 and over 45-
Acute Lymphoblastic Leukaemia (ALL)

over 55-
Chronic Lymphocytic Leukaemia (CeLLmates)

over 65-
chronic myeloid leukaemia (CoMmon)

over 75-
acute myeloid leukaemia (AMbitions)

110
Q

what happens in chronic myeloid leukaemia

A

uncontrolled growth of myeloid cells causing increased granulocyte production (neutrophils, eosinophils, basophils)

111
Q

what causes uncontrolled growth of myeloid cells in chronic myeloid leukaemia

A

chromosomal abnormality causes formation of Philadelphia chromosome-translocation 9:22
BCR-ABL gene fusion causes tyrosine kinase to be irreversibly switched on- increasing cell proliferation

112
Q

presentation of chronic myeloid leukaemia

A

gen leukaemia Sxs
MASSIVE HEPATOSPLENOMEGALY
anaemia
petechiae
gout

113
Q

investigations for chronic myeloid leukaemia

A

FBC= pancytopenia BUT granulocytosis

blood blast cell % shows severity
<10%- chronic, 1.
10-19% - accelerated, 2.
>20%- blast crisis 3.

114
Q

management of chronic myeloid leukaemia

A

1st= tyrosine kinase inhibitors- imatinib

blast phase= imatinib + chemo

BM transplant if not responding 2 drugs

115
Q

what happens in acute lymphoblastic leukaemia

A

malignant change in 1 of the lymphocyte precursor cells causes uncontrolled proliferation of lymphoblasts
-mostly B cell lineage

excessive proliferation + accumulation of lymphoblasts in BM + peripheral blood- replaces other cell types (pancytopenia)

116
Q

who is mostly commonly affected by acute lymphoblastic leukaemia

A

children 2-4 yrs
associated w. Down’s + radiation

117
Q

presentation of acute lymphoblastic leukaemia

A

gen leukaemia (except in down’s)
CNS involvement
lymphadenopathy

118
Q

investigations for acute lymphoblastic leukaemia

A

FBC= pancytopenia
blood film= increased lymphoblasts

BM biopsy= >20% lymphoblasts (diagnostic)

immunofluorescence= TdT positive lymphoblasts
lumbar puncture= lymphoblasts in CSF

119
Q

management of acute lymphoblastic leukaemia

A

chemo (consider adding allopurinol to prevent tumour lysis)
support w. CNS prophylaxis
last resort= stem cell transplant

120
Q

what is chronic lymphocytic leukaemia

A

chronic proliferation of a single type of well differentiated lymphocyte
-usually B lymphocytes

causes uncontrolled proliferation of mature B-lymphocytes which have escaped apoptosis
-lymphocytes accumulate in bone then spread 2 lymphoid tissues

121
Q

presentation of chronic lymphocytic leukaemia

A

gen leukaemia Sxs
hepatosplenomegaly
lymphadenopathy
petechaie
anaemia Sxs

122
Q

investigations for chronic lymphocytic leukaemia

A

FBC= pancytopenia, anaemia, increased WBCs
blood film= SMUDGE CELLS + increased lymphocytes
antibody levels= hypogammaglobulinemia- B cells proliferate but don’t differentiate into plasma cells (plasma cells produced antibodies)

123
Q

management of chronic lymphocytic leukaemia

A

chemo + allopurinol
IV immunoglobulins (antibodies) - IVIG + rituximub for hypogammaglobulinemia

124
Q

what is a complication of chronic lymphocytic leukaemia

A

Richter Transformation
-B massively accumulate in lymph nodes> massive lymphadenopathy + transformation from CLL to aggressive lymphoma

125
Q

what is a lymphoma (and how does lymphadenopathy occur in lymphoma)

A

cancer affecting lymphocytes inside the lymphatic system
-cancerous cells proliferate inside the lymph nodes causing them to become abnormally large = lymphadenopathy

126
Q

describe Hodgkin’s lymphoma (what cells are present)

A

mutation in DNA of lymphocytes
= leads to presence of - REED STERNBERG CELLS (large, multi-nucleated, malignant Hodgkins cells)

127
Q

list 5 risk factors for Hodgkins lymphoma

A

EBV
HIV
FHx
autoimmune conditions
teens + elderly (bimodal age distribution)

128
Q

presentation of Hodgkins lymphoma

A

non-tender, rubbery lymphadenopathy (painful after drinking alcohol
fever, wt. loss, night sweats
abdo pain
recurrent infections
fatigue, itching, cough, shortness of breath

129
Q

investigations for Hodgkins lymphoma

A

lymph node biopsy- reed Sternberg cells positive
increased LDH
FBC= decreased Hb, increased ESR

CT/MRI for lymphoma staging

130
Q

what is used to stage Hodgkins lymphoma

A

ANN ARBOUR STAGING
1. only @ 1 region of lymph nodes
2. 2 or more lymph nodes on same diaphragm side
3. @ lymph nodes on both sides of the diaphragm
4. widespread involvement of non-lymphoid organs (liver, lungs)

Lugano classification- 4 stages
1. only @ 1 region of lymph nodes
2. 2 or more lymph nodes on same diaphragm side
3. @ lymph nodes on both sides of the diaphragm
4. widespread involvement of non-lymphoid organs (liver, lungs)
(Add Clarifier)
Add Footnote

131
Q

management of Hodgkin’s lymphoma + a comp

A

ABVD chemo: adriamycin, bleomycin, vinblastine, dacarbazine
+ radiotherapy

comp= febrile neutropenia (tx w amoxicillin)

132
Q

name 3 sub-types of non-hodgkin’s lymphoma

A

diffuse large B cell lymphoma- mc.
Burkitt lymphoma (caused by EBV)
MALT lymphoma (caused by H. pylori)

133
Q

list 5 risk factors for non-hodgkins lymphoma

A

EBV
H. pylori
HIV
hep B/C
FHx

134
Q

presentation of non-hodgkins lymphoma

A

painless rubbery lymphadenopathy
+
malaise
abdo pain
recurrent infections
fatigue
shortness of breath
cough
headache

135
Q

management of non-hodgkins lymphoma

A

lymph node biopsy= diagnostic
- NO reed-sternberg cells
- confirms subtype eg burkitt= starry sky biopsy

LDH= raised
ESR= raised
CT/MRI of chest, abdo pelvis for ANN ARBOR STAGING

136
Q

management of non-hodgkins lymphoma

A

R-CHOP chemo- rituximab, cyclophosphamide,, hydroxydaunorubin, vincristine, prednisolone
- monoclonal antibodies target CD20 B cells

137
Q

what is polycythaemia

A

proliferation of erythrocyte (RBC) cell line
-increase in RBC count + haemocrit

138
Q

what are primary and secondary polycythaemia each caused by

A

primary= polycythaemia vera- caused by JAK2 mutation

secondary= caused by hypoxia, increase in erythropoietin, dehydration (alcohol induced)

139
Q

what does JAK2 mutation cause in polycythaemia vera

A

mutation= JAK2 gene always activated- always produces RBCs without erythropoeitis

140
Q

presentation of polcythaemia vera

A

itchy after bath
redness of conjuctiva
blurred vision
splenomegaly
‘ruddy’ complexion
erythromelagalia- burning in fingers + toes
prone 2 clotting

141
Q

investigations for polcythaemia vera

A

FBC= raised WCC, platelets, Hb
GS= genetic test 4 JAK2 mutation

142
Q

management of polycythaemia vera

A

no cure- aim is to maintain norm blood count
venesection- removes blood to keep Hb in norm range
myelosuppressive meds- hydroxycarbomide/hydroxyurea OR JAK2 inhibitor

aspirin- prevents clotting

143
Q

what are the two types of thrombocytopenia

A

immune thrombocytic purpura
thrombotic thrombocytic purpura

144
Q

what happens in immune thrombocytic purpura + who do the different types affect

A

autoimmune platelet destruction (IgG)
Type 1- children 2-6 yrs, post viral infection
Type 2- adult women w. malignancy, HIV, other autoimmune conditions

145
Q

presentation of immune thrombocytic purpura

A

PURPURIC RASH
easy bleeds
menorrhagia

146
Q

investigations + management of immune thrombocytic purpura

A

Dx= thrombocytopenia + increased BM megakaryoblasts

Tx= prednisolone + IV IgG- decreased splenic platelet destruction (then splenectomy)

147
Q

what deficiency causes thrombotic thrombocytic purpura and what does this cause

A

ADAMTS13 deficiency - VWF cleaving enzyme
VWF normally cleaved into fragments- here remain as multimers + aggregate @ endothelial injury sites

148
Q

presentation of thrombotic thrombocytic purpura

A

PURPURIC RASH
menorrhagia
AKI
haemolytic anaemia
neuro Sxs

149
Q

investigations and management of thrombotic thrombocytic purpura

A

Dx= thrombocytopenia + SCHISTOCYTES
- low levels of ADAMTS13

Tx=
1. plasmaphoresis
2. prednisolone + rituximab

150
Q

Epstein-Barr virus: who does it affect and how is it spread

A

glandular fever= infection caused by EBV
affects 15-24 y/o
spread via sharing saliva/ bodily fluids

151
Q

describe an arterial thrombus and give 3 examples

A

arterial=
ischaemia to organs/tissue
cyanotic, cold

Cardiovascular disease (CVD)= IHD induced, MI, angina

cerebrovasc= ischaemic stroke + TIA

Peripheral vascular disease (PVD)

152
Q

describe a venous thrombus and give 2 examples

A

venous (Virchow’s triad)
-red + warm

DVT
PE

153
Q

name 3 causes of bleeding dysfunction and give examples

A

overanticoagulation:
heparin, aspirin, clopidogrel, thrombolytics eg alteplase

DIC (disseminated intravascular coagulation)

inherited Conditions:
Haemophilia A (F8)
Haemophilia B (F9)
von willebrand disease

154
Q

what is haemophilia and which clotting factors are affecting in types A and B

A

x-linked factor deficiency

A= factor 8 (mc)
B= factor 9

155
Q

what does a lack of factor 8/9 cause win haemophilia

A

lack of factors= delayed thrombin formation + unstable clot that is easily dislodged causing excessive bleeding

156
Q

presentation of haemophilia

A

spontaneous bleeding
haemarthrosis (bleeding into joint spaces)
easy bruising
nose bleeds

157
Q

investigations for haemophilia (including GOLD)

A

norm prothrombin time BUT prolonged activated partial prothrombin time

GOLD= decreased F8 or F9 assay

158
Q

management of A or B haemophilia

A

A= IV F8 + desmopressin (stimulates VWF, boosting F8 activity)
B= IV F9

159
Q

describe von willebrand’s disease (VWF)

A

autodom mutation of VWF gene on chromosome 12
VWF= responsible for base of platelet plug- absence= more spontaneous. bleeds + bruising

160
Q

investigations for VWF

A

norm PT
increased activated partial prothrombin time
norm F8/F9
decreased VWF (GS)

161
Q

management of VWF

A

non-curable
Tx= desmopressin- releases VWF from endothelial weibelpalade bodies

162
Q

what is disseminated intravascular coagulation (DIC)

A

trauma/sepsis/malignancy causes massive activation of coagulation cascade (crisis)

platelets= unnecessarily consumed
lack of platelets = increased bleeding risk

163
Q

investigations and management of DIC

A

Dx=
decreased fibrinogen + platelets
increased D .dimer (released when blood clots are broken down)

Tx=
platelet transfusion + RBC transfusion if bleeding
replace clotting factors
replace fibrinogen (cryoprecipitate)

164
Q

what is tumour lysis syndrome and what happens

A

complication of cancer therapy
- rapid breakdown of large numbers of cancer cells + subsequent release of their intracellular content (K+, phosphate, nucleic acids) into bloodstream overwhelms normal homeostatic mechanisms

165
Q

presentations of tumour lysis syndrome

A

arrythmias
seizures
syncope
chest pain
dyspnoea
n+v
diarrhoea
musc. weakness + cramps
parathesia

166
Q

investigations for tumour lysis syndrome

A

increased:
serum uric acid
phosphate
creatinine

FBC= increased WBCs
serum Ca= decreased
LDH= increased

167
Q

management of tumour lysis syndrome

A

treat arrythmias or seizures
fluid resuscitation + diuretic
rasburicase (prevention)
phosphate binder
hyperkalaemia= Ca gluconate

168
Q

neutropenia vs neutrophilia

A

neutropenia= decreased no. of neutrophils
per micrometer of blood
mild= 1000-1500
severe= <500

neutrophilia= increased no. of neutrophils
>7500 neutrophils per micrometer of blood

169
Q

lymphopenia vs lymphophilia (lymphocytosis)

A

lymphopenia= decrease in no. of lymphocytes
<1000 lymphocytes per micrometer of blood

lympophilia (lymphocytosis)= increase in no. of lymphocytes
>4000 lymphocytes per microliter of blood
(often due 2 viral infections eg EBV)

170
Q

what is thrombocytopenia (levels and causes)

A

bone marrow not producing enough platelets
mild= 101000- 140000 per microliter of blood
severe= 51000-21000 per microliter of blood

causes= blood cancers: leukaemia, lymphoma

171
Q

what is thrombophilia and what is the mc acquired thrombophilia

A

blood is hyper coagulable
mc. = anti-phospholipid syndrome

172
Q

what is PT/INR

A

PT= prothrombin time- Time it takes for clot to form (tests extrinsic pathway)

INR= international normalised ratio- type of calc based on PT test results

173
Q

what is aPTT

A

aPTT= activated partial thromboplastin time
-tests clotting factors in intrinsic pathway

Phase 2a (12 decks)

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