7. HAEMOTOLOGY Flashcards
1
Q
what is anaemia and what is its value in men and women
A
low concentration of haemoglobin
Hb <130 in men, <120 in women
2
Q
what is the most common cause of anaemia
A
iron deficiency
3
Q
what r the 5 types of anaemia
A
haemolytic, aplastic, microcytic, macrocytic, normocytic
4
Q
what is haemolytic anaemia
A
anaemia caused by RBC destruction rate being faster than RBC production
5
Q
what type of jaundice does haemolytic anaemia always cause
A
pre hepatic jaundice
6
Q
what is aplastic anaemia
A
anaemia caused by decreased RBC production
7
Q
what is microcytic anaemia 2
A
MCV of less than 80
small hypochromic (lighter coloured due to reduced haemoglobin) RBCs
8
Q
what is normocytic anaemia 2
A
MCV of 80-100
normal sized RBC but fewer RBC than normal
9
Q
what is macrocytic anaemia 2
A
MCV of more than 100
bone marrow produces abnormally large RBCs
10
Q
compare symptoms and signs
A
symptoms= what patient tells u
signs= medical observations u make as a doctor
11
Q
general symptoms of anaemia (4)
A
fatigue
headache
dizziness
dyspnoea on exertion
12
Q
give signs specific to deficiency anaemia and mention which type of anaemia this is (4)
A
Koillonychia (iron)
angular stomatitis (iron/b12)
lemon-yellow skin (b12)
leukonychia (iron)
13
Q
what r GENERAL (NON SPECIFIC) SIGNS NOT SYMPTOMS of anaemia (5)
A
TACHYCARDIA
skin pallor
conjunctiva pallor
intermittent claudication
brittle hair
14
Q
what is conjunctiva pallor
A
pale appearance of conjunctiva in eye that indicates anaemia
15
Q
what is intermittent claudication and why does this happen
A
muscle pain during exercise due to ischaemia occurring
16
Q
what is Koillonychia
A
spoon shaped nails
17
Q
what is leukonychia
A
white marks of nails
18
Q
what is angular stomatitis
A
inflammation of corners of mouth
19
Q
what is a sign of haemolytic anaemia (3)
A
jaundice/ dark urine/ pale stools
20
Q
what is ferratin
A
main protein that stores iron intracellularly
21
Q
where is majority of iron storage
A
liver
22
Q
what happens to ferritin levels during acute inflammation and why (1,1)
A
increases as ferritin is a acute phase reactant
23
Q
what is transferrin
A
protein mediating iron transport in the blood
24
Q
when r transferrin saturation levels low
A
iron deficiency: as not much iron bound to i
25
when r there raised transferrin levels
iron deficiency
due to body trying to compensate for reduced iron levels by producing more transferrin
26
what r the causes of microcytic anaemia (4) and what is the acronym to remember this
iron deficiency, anaemia of chronic disease, thalassemia, sideroblastic anaemia
(TAIS: thalassaemia, anaemia of chronic disease, iron deficiency, sideroblastic anaemia)
27
what r the three causes of iron deficiency anaemia and give two examples of each
1. reduced absorption of iron (low in diet, malabsorption at SI)
2. increased iron utilisation (pregnancy, children)
3. blood loss (menstruation and trauma)
28
can iron deficiency be inherited and what gender is it more prevalent in
no
females
29
how does iron deficiency cause microcytic anaemia
reduces haemoglobin synthesis which causes microcytic anaemia
30
what r the 2 signs of iron deficiency anaemia
1. plummer vinson syndrome
2. atrophic glossitis (enlarged tongue)
31
what is plummer vinson syndrome and when does it present
typical triad presentation: dysphagia, iron deficiency, oesophageal webs
iron deficiency anaemia
32
what r the two things seen on a blood film test of iron deficiency anaemia and what is the general appearance of the cells 2
1. target cells (non specific bullseye pattern)
2. howell jolly bodies (non specific nucleated RBCs)
small, hypochromic cells
33
what r the FBC results for iron deficiency anaemia (2)
low haemoglobin levels
low iron
34
what are the iron studies results for iron deficiency anaemia (5)
low ferritin (unless active inflammation)
low serum iron
low transferrin saturation
high transferrin
high TIBC
35
what is TIBC and what does it stand for
(total iron binding capacity test)- affinity for iron to bind to a protein
36
treatment for iron deficiency anaemia (1)
ferrous sulphate
37
what r the causes of anaemia of chronic disease (3)
chronic infection
chronic inflammation (in connective tissue diseases)
neoplasia
38
FBC results for anaemia of chronic disease (3)
low haemoglobin
low/ normal MCV
high ESR
39
iron studies results for anaemia of chronic disease (5)
explain the odd one out 1
explain why iron is low 1
normal or raised ferritin
low serum iron
low transferrin
low transferrin saturation
low TIBC
(everything is low except ferratin- which is an acute phase reactant)
(iron is low because macrophages trap iron within it so it can't be reused in the iron cycle)
40
what is thalassaemia 1, its inheritence 1 and what does this cause 1
inherited autosomal recessive alpha or beta globin mutations
which causes haemoglobin chain abnormalities
41
where is thalassaemia prevalent and why
areas where malaria is because it is protective
42
presentation for thalassemia (1)
microcytosis disproportionate to haemoglobin levels
43
iron studies results for thalassemia (anaemia) (5)
normal/ raised ferritin
normal/ raised serum iron
normal/ low transferrin
normal/ raised transferring saturation
normal/ low TIBC
transferrin and TIBC is normal/ low
everything else is normal/ raised
44
blood film results for thalassemia (anaemia) (1)
generally microcytic, hypochromic cells
45
investigations for thalassaemia 4
blood film
iron studies
Hb electrophoresis
X ray- increase bone marrow activity looks like a hair on end appearance (increase in activity due to poor erythropoiesis)
46
specific test for thalassemia 1 (anaemia) and expected results 3
Haemoglobin electrophoresis
high HbA2 and HbF
low HbA
47
treatment for thalassemia causing anaemia (3)
blood transfusions
venesection
splenectomy
48
what is the definitive treatment for thalassaemia and why is this not used more often
bone marrow stem cell transplant
risky
49
compare blood transfusion and splenectomy for treating thalassemia (1, 2)
blood transfusions (can have complications- risk of side effects from too much iron)
splenectomy (reduces mass RBCs destruction and reduces transfusion complications)
50
how is the excess iron counteracted during blood transfusion, give an example and 2 side effects
iron chelation eg desfemoxamine (des fem ox amine)
deafness, cataracts
51
complication of thalassemia (1) and why 1
organ failure (heart and liver)
not enough oxygen carried to these organs
52
compare how common alpha and beta thalassaemia r compared to each other
beta is more common than alpha
53
what is alpha and what is beta thalassaemia
alpha= genetic disorder with a deficiency in alpha globin chains of Hb
beta= genetic disorder with a partial/ complete deficiency in beta globin chains of Hb
54
what r the types of alpha thalassaemia based on and what chromosome
based on deletions of the 4 alleles on chromosome 16 responsible for alpha globin
55
symptoms for alpha thalassaemia 3
usually asymptomatic
jaundice
fatigue
56
what r the 4 types of alpha thalassaemia
1. silent carrier
2. mild anaemia
3. marked anaemia
4. HbH Barts
57
what is the silent carrier type 1 alpha thalassaemia's gene mutation and what symptoms r there
one gene deletion
asymptomatic
58
what is the mild anaemia type 2 alpha thalassaemia's gene mutation
2 gene deletions
59
what is the marked anaemia type 3 alpha thalassaemia's gene mutation and how is damage caused in this type (1)
3 gene deletions
beta chains form tetramers known as HbH which cause damage due to their high affinity to oxygen and by causing haemolysis
60
what is the HbH Barts type 4 alpha thalassaemia's gene mutation and what damage caused in this type (3)
4 gene deletions (gamma chains form tetramers called Hb Barts which causes sever hypoxia and high carbon monoxide levels, leading to heart failure and hepatosplenomegaly and oedema)
61
what is hydrops fetalis and what causes this
heart failure in utero due to HbH Barts alpha thalassaemia mutation
62
what mutation determine the types of beta thalassaemia 3
based on point mutations at 2 gene points on chromosome 11
63
what r the types of beta thalassaemia 3 and explain their gene mutations (reduced/ absent... what?)
thalassaemia minor= 1 normal alleles and reduces/ absent beta chain allele
thalassaemia intermedia= 2 reduces beta chain alleles
thalassaemia major= 2 absent beta chain alleles
64
what is the pathophysiology of beta thalassaemia 3
what can it potentially lead to 1
beta deficiency causes alpha chain accumulation in RBCs which forms inclusions which damages RBCs, leading to haemolysis and potentially hypoxia
65
when do symptoms develop in beta thalassaemia
develop within 5 months of life
66
signs of beta thalassaemia 4
1. chipmunk facies (enlarged forehead and cheekbones due to ineffective erythropoiesis causing bone changes )
2. failure to thrive
3. hepatospenomegaly
4. gall stones (presenting feature may have right upper quadrant pain)
67
what is sideroblastic anaemia 1 and what happens to this iron 1
body unable to insert iron into haemoglobin
iron accumulates in mitochondria
68
causes of sideroblastic anaemia (3)
excess alcohol
metal poisoning
vitamin B deficiency
69
what three things r seen on a blood film for sideroblastic anaemia
microcytic CMV
ringed sideroblasts on blood film
basophillic stippling
70
iron studies results for sideroblastic anaemia (5)
increased ferritin
high serum iron levels
low transferrin
high transferrin sat
low TIBC
71
what r the two categories of normocytic anaemia and what value defines each
NON HAEMOLYTIC:
-reduced reticulocyte count due to failing BM-
HAEMOLYTIC:
-high reticulocyte to make up for RBC death which shows the BM has a good response-
72
name 3 non haemolytic causes and 4 haemolytic causes of normocytic anaemia
NON HAEMOLYTIC:
chronic kidney disease
Aplastic anaemia
pregnancy
CAP (BM is capping)
HAEMOLYTIC:
sickle cell
G6PDH deficiency
autoimmune haemolytic anaemia
hereditary spherocytosis
SAGH (sagging BM- struggling but still functional)
73
3 markers and values of normocytic anaemia
high LDH
high unconjugated bilirubin
low haptoglobin in haemolytic anaemia
74
what is LDH marker
marker of cell damage in body
indicates haemolysis
75
what is haptoglobin a marker of
acute phase marker of RBC destruction
76
3 investigations for haemolytic anaemia and results (3)
FBC: high reticulocytes (chronic)
urine: high urobilinogen and high bilirubin
blood film: schistocytes on blood film
77
what r schistocytes
fragments of RBCs which r jagged and can cause endothelial damage
78
what r the 5 causes of macrocytic anaemia, split into two subcategories
megoblastic
B12 deficiency
folate deficiency
nonmegablastic
liver disease (non alcoholic)
hypothyroidism
alcohol excess
79
what r codocytes 1 and what type of anaemia r they formed in 3
codocytes= ‘target cells’ on blood film
sickle cell, thalassaemia, iron deficiency
STI
80
causes of B12 deficiency macrocytic anaemia (4)
1. Pernicious anaemia
2. malabsorption (coeliac, IBD, ileostomy, bowel resection)
3. decreased dietary intake (found in meat, fish, eggs and milk)
4. chronic nitrous oxide use (laughing gas)
81
FBC results for B12 deficiency macrocytic anaemia (2)
low Hb
low B12
82
blood film results for B12 deficiency macrocytic anaemia (3)
megaloblasts
oval RBCs
hypersegmented neutrophils
83
symptoms of B12 deficiency macrocytic anaemia (1, 3)
general anaemia presentation
neurological signs: paraesthesia in extremities, muscle weakness, reduces sense of taste
PMS
84
treatment for B12 deficiency 2
dietary advice (increase eggs and salmon)
take B12 supplements (eg oral hydroxycolbamin)
hydroxy col ba min
85
why is there increased bone marrow activity in certain types of anaemias
due to poor erythropoeisis
86
6 abnormal cell counts
neutrophilia
neutropenia
thrombocytopenia
thrombocytosis
lymphocytosis
lymphocytopenia
87
what is neutrophillia and causes of neutrophillia (3)
high neutrophil count
infection, inflammation, chronic myeloid leukaemia
88
what is neutropenia and causes of neutropenia (4)
low neutrophil count
antibiotics, marrow failure, chemo, LIVER DISEASE
89
what is pernicious anaemia
autoimmune condition where autoantibodies produced against parietal cells and intrinsic factor= where body cannot absorb B12
90
what is thrombocytosis and causes 5
high platelet count (secondary to a condition)
infection, inflammation, tissue injury, splenectomy, essential thrombocythemia (BM makes too many platelets)
91
what is thrombocytopenia and causes (2 and 2 eg for each)
low platelet count
causes= low production (bone marrow failure or congenital) or increased removal (SLE, DIC)
92
what is lymphocytosis and causes (7)
high lymphocytes
EBV, HEPATITIS, CLL, ALL, lymphoma, ITP, TTP
93
what is lymphocytopenia and causes (4)
low lymphocytes
steroids, HIV, marrow failure, chemo
94
what is primary and secondary haemostasis
1: initiation and formation of platelet plug
2: formation of fibrin clot
95
what does primary haemostasis involve (1)
involves platelet activation
96
what does secondary haemostasis involve (1)
involves intrinsic and extrinsic coagulation cascade
97
what r the 2 main things that occur in platelet activation
1. initial activation
2. amplification
98
explain initial activation in platelet activation
collagen binds to GP2b and 3a via VWF
99
explain amplification in platelet activation (4)
thromboxane binds to TPa receptors
ADP binds to P2Y12 receptors
other platelets form GP2a/b crossbridges
thrombin binds to PAR1/4 receptors
100
how do NSAIDs, clopidogrel and dabigatran inhibit platelet plug formation
NSAIDs inhibit thromboxane formation
clopidogrel inhibits P2Y12 binding
dabigatran inhibits thrombin binding
101
3 changes to platelets during activation
1. platelets change shape (to pseudopodia)
2. dense granule release (contains more ADP for further P2Y12 activation)
3. alpha granule release (inflammatory mediators and clotting factors)
102
what initiates the intrinsic pathways and what is the factor number pathway
initiated by endothelial collagen
12-> 11-> 9-> 8-> 10-> 10a
103
what initiates and expresses the extrinsic pathways and what is the factor number pathway
initiated by tissue factor
expressed by immune cells and endothelium
3->7-> 10-> 10a
104
state the common pathway (5)
10a-> prothrombin (II)-> thrombin (IIa)-> fibrinogen-> fibrin (factor 13 reinforces fibrin)
105
how does warfarin block the clotting cascade
warfarin blockers vitamin K so it prevent factors 10, 9, 7 and 2 being formed
106
how does heparin block the clotting cascade
heparin is an unselective antithrombin III inhibitor which blocks factor 10 and 2 in the common pathway
107
how does rivaroxiban block the clotting cascade
rivaroxiban directly inhibits factor 10a
108
what is APTT stand for and what does it measure (1,1(
activated partial thromboplastin time (measure of intrinsic and common pathway)
109
what is PT stand for and what does it measure
prothrombin time (measure of extrinsic pathway)
110
what is the inheritance type of sickle cell disease and what is the expression in hetero/homozygotes and what is the genotype for homozygous
autosomal recessive (heterozytes get the traits, homocytes get the disease)
genotype for homozygous= HbS HbS
111
what is the gene mutation for sickle cell disease, what chromosome and what is the effect of this mutation (3)
gene on Cr11: glutamic acid substitution with valine which causes B-globin polymerisation
112
what r the 4 consequences of sickle shaped cells
reduced oxygen carrying capacity
cause endothelial damage
RBC sequestration (build up of RBC in spleen)
reduced lifespan
113
exacerbators of sickle cell (4)
hypoxia
cold weather
parvovirus B19
physical exertion
114
acute presentation of sickle cell (6- broken up into 3 organ systems)
GI: sequestration crisis
RESP: dyspnoea, cough, hypoxia
MSK: bone pain, joint pain
115
what is sequestration crisis
blood outflow from the spleen is blocked which causes accumulation of blood in the spleen= splenomegaly
116
complications of chronic sickle cell disease (5)
avascular necrosis of joints
silent CNS infarcts
retinopathy
nephropathy
osteomyelitis
CROANS (c= chronic complications)
117
4 investigations for sickle cell disease
FBC
blood film
sickle solubility test
haemoglobin electrophoresis
118
results for FBC in sickle cell disease (2)
low MCV, low haemoglobin levels
119
results for blood film in sickle cell disease (2)
shows sickled erythrocytes and howell jolly bodies
120
results for sickle solubility test in sickle cell disease (1) and what is a limitation of this test (1)
HbS presences
only detects HbS presence- doesn’t differentiate between heterozygous and homozygous
121
results for Hb electrophoresis in sickle cell disease (1)
band of HbS
122
acute management for sickle cell (4)
morphine, oxygen, IV fluids, transfusion exchange
MOIT
123
chronic management for sickle cell (2)
hydroxycarbamide and folic acid supplements in combination with each other
hydroxy- car - baa mide
hydroxy in a car with a sheep that goes baa whos name is mide
124
what does hydroxycarbamide do (3)
inhibits ribonucleotide reductase, decreases DNA synthesis and raised HbF (foetal) levels in the sickle cell
125
what is the last resort treatment for sickle cell disease 1
bone marrow stem cell transplant
126
what is G6PDH deficiency (inheritence) and what 1 thing does this cause
what is the normal function of G6PDH
x linked recessive enzymopathy causing shortened RBC lifespan (G6DPH is usually protective against oxidative damage)
127
what is the presentation of G6PH deficiency 2
mostly asymptomatic
unless precipitated= presents in a form of a attack
128
what r the triggers for a G6PDH deficiency attack 4
Fava beans, antimalarials, nitrofurantoin, naphthalene (in presticide)
129
what are the symptoms of a G6PDH attack 2 and what occurs in an attack
rapid anaemia and jaundice
intravascular haemolysis occurs
130
what r the investigations 1 for a G6PDH deficiency and what are the results 6
FBC and blood film:
-normal in between attacks
-during attack: normocytic with increased reticulocytes and Heinze bodies and bite cells
-low G6DPH levels
131
what is the treatment for G6PDH deficiency 2
avoid precipitants
blood transfusions when there is an attack
132
what is hereditary spherocytosis and its inheritence, 1, 1
autosomal dominant
sphere shaped RBC
133
what is the pathophysiology of hereditory spherocytosis 5
1. loss of proteins of RBC cell membrane
2. causes SA to be disproportionate to volume of RBC
3.= spherical shaped RBCs
4. this increases splenic recycling
5. RBCs get stuck in spleen= splenomegaly
134
symptoms of Hereditary Spherocytosis 4
general anaemia
neonatal jaundice
splenomegaly
gall stones (in 50%)
135
investigations and results for hereditary spherocytosis (2-> 3, 1-> 1)
FBC and blood film:
normocytic with increased reticulocytes, sphreocytes (also seen in acquired haemophilia A)
direct coombs test: negative, if + then autoimmune haemolytic anaemia (spherocytes commonly seen in AHA)
136
treatment of Hereditary Spherocytosis 4
folate supplements
splenectomy (to decrease extravascular haemolysis)
for neonatal jaundice give phototherapy
transfusions in an acute crisis
137
what r the types of autoimmune haemolytic anaemia, which is more common and what precipitates this (pathophys) 2
-warm and cold subtypes (warm is most common)
1. precipitated by autoantibodies
2. these bind to RBCs, causing intra and extravascular haemolysis
138
investigation 1 for autoimmune haemolytic anaemia and result
direct coombs positive (agglutination) of RBCs with coombs agent
139
what is aplastic anaemia pathophysiology 2
1. bone marrow failure means it stops making haematopoeitic stem cells
2. this leads to deficiency of all red, white cells and platelets= pancytopenia)
140
2 causes for aplastic anaemia
idiopathic acquired
infectious (EBV/ parvovirus B19)
141
investigations 2 and results for aplastic anaemia (1->2, 1->1)
RBC= normocytic anaemia with low reticulocytes
BM biopsy exam= hypocellularity
142
how long does pernicious anaemia take to present
presentation at a later point in life
143
what is the presentation characteristic of folate deficiency and how can it be linked to B12 deficiency 1,1
takes months to develop (unlike years for B12)
can be concomitant with B12 deficiency
144
causes of folate deficiency 5
malnutrition
malabsorption
pregnancy
trimethoprim and methotrexate
alcohol
145
symptoms of folate deficiency 3
general anaemia symptoms
angular stomatitis
glossitis
146
investigations for folate deficiency 2->2
FBC and blood film:
megaloblasts
low serum folate
147
treatment for folate deficiency 2, what about if concomitant with B12 def 1 and what about in cases of pregnancy 1
dietary advice (have leafy greens, brown rice etc)
folate supplements
if concomitant with B12 deficiency, replace B12 first
pregnant: prophylactic folate 100mg for first 12 weeks for healthy development
148
how does alcohol cause non megaloblastic anaemia 2 pathophys
1. toxic to RBCs
2. also depletes folate
149
how does hypothyroidism cause non megaloblastic anaemia 1
interferes with erythropoeisis
150
how does liver disease cause non megaloblastic anaemia 1
increases cholesterol deposition on the RBCs which means it cant carry as much Hb
151
what r the bleeding dysfunctions 4
1. over anticoagulation eg overdose heparin
2. DIC
3. haemophillia A and B
4. von willebrands disease
152
what does TTP stand for and what is this an issue with (in terms of thrombosis formation)
Thrombotic thrombocytopenia purpura
primary haemostasis
153
what is TTP 3
1. ADAM TS13 protein deficiency which normally cleaves VWF
2. so body is unable to break clumps of VWF
3. these accumulate as microvascular clots in small blood vessels
154
risk factors for TTP 3
adults
female
familial inheritence
155
symptoms for TTP 5
fatigue
fever
jaundice
petechiae
purpuric rash
156
what is purpuric rash
rash of purple spots on skin due to small bleeding from small BVs under the skin
157
what is petechiae
red spots on skin due to small bleeding from small BVs under the skin
158
what investigations r done for TTP (4)
blood smear, genetic test, FBC, bloods
159
FBC results for TTP(3)
high WCC
low Hb
low platelets
160
bloods results for TTP (4)
normal PT
normal APTT
raised bilirubin
raised creatinine
161
blood smear results for TTP (1) and ADAM t513 test result
schistocytes present
low ADAM t513 result
162
why r PT and APTT test results normal in TTP (1)
because there is an issue with primary haemostasis not with secondary haemostasis
163
what is the treatment for TTP (2)
1. plasmapheresis
2. prednisolone and rituximab
164
what does ITP stand for
Immune thrombocytopenia purpura
165
what is more common ITP or TTP
ITP
166
what is ITP 1 and why is this an issue with primary haemostasis 1
1. autoimmune IgG destruction of GP2b/3a platelets
2. platelets cant be activated= issue with primary haemostasis
167
2 types of people/ presentations that can have ITP
1. children post viral infection
2. adult females with autoimmune condition eg HIV
168
presentation of ITP (2)
same as TTP
BUT no systemic signs
169
investigations (3) and results for ITP (3,2,1)
FBC: raised WCC, low Hb, low platelets
bloods: normal PT and APTT
blood smear: normal RBC appearance
170
treatment for ITP (3)
1. prednisolone and IV IgG
2. splenectomy
171
what does DIC stand for and what is it usually triggered by (2)
Disseminated intravascular coagulation
systemic inflammation or infection
172
what is DIC 1, what does this cause 2 and what increased risk does this lead to 1 and what type of disorder is it? 1
widespread activation of coagulation cascade and platelet activation
this causes microvascular thrombosis and unnecessary consumption of clotting factors
increased risk of bleeding
disorder of primary and secondary haemostasis
173
what r the causes for DIC (3)
sepsis
trauma
malignancy
174
what is the presentation for DIC (2)
bleeding (epistaxis, bruising, rash, GI bleeds)
ARDS-an acute respiratory distress syndrome
175
what are the 2 investigations for DIC
blood tests
blood smear
176
results of blood tests in DIC (5)
low platelets
low fibrinogen
high d-dimer
long PT
long APTT
177
what does the blood smear in DIC show (1)
schistocytes
178
treatment for DIC (3)
1. fresh frozen plasma to replace clotting factors
2. cryoprecipitate to replace fibrinogen
3. if bleeding then give platelet/ RBC transfusion
179
what r the two types of haemophilia, which is more common and what part of the coagulation do they affect, how r they inherited
A and B
A (b is rare)
intrinsic pathway
x-linked
180
what is haemophilia A and what type of disorder is it
factor 8 deficiency
secondary haemostasis disorder
181
how is haemophilia A inherited
recessive
x-linked
182
what is haemophilia B and what type of disorder is it
factor 9 deficiency
secondary haemostasis disorder
183
presentation of haemophilia (4)
spontaneous bleeds
easy bruising
epistaxis (nose bleeds)
haemarthrosis (bleeding into joint spaces)
EESH
184
2 investigations and results for haemophilia (1-> 2, 1-> 1)
bloods: high APTT, normal PT
low F8 (A) or F9 (B) assay
185
what is the treatment for haemophilia (2,1)
A= IV F 8 plus desmopressin (releases F8 stored in vessel walls)
B= IV F9
186
what type of disorder is von willibrands disease and what is the inheritance and location of the mutation
a primary haemostasis disorder
auto dom mutation of VWF gene on chromosome 12
187
what is von willebrands disease and what types does it include
decreased functional VWF in blood
type 1,2,3
188
what is the most common type of VW disease
type 1
189
what is a consequence of VW disease and explain how this comes about
vwf protects factor 8 from liver protein C destruction so lack of vwf can caused factor 8 deficiency
190
presentation of VW disease (4)
epistaxis
GI bleeding
menorrhagia
easy bruising
191
investigation and results for VW disease (1:2)
bloods: low plasma vWF measurement and prolonged APTT if factor 8 is low
192
treatment for VW disease (2)
type 1 is treated with desmopressin
tranexamic acid can reduce acute bleeding
193
how does desmopressin treat VW disease 1
increases VWF release from endothelial Weibel Palade bodies
194
what r the 3 main types of blood cancer
leukaemias
lymphomas
others
195
what 4 examples of leukaemias r there
myeloid (acute myleloid leukaemia, chronic myeloid leukaemia), lymphoid (acute lymphoblastic leukaemia, chronic lymphoblastic leukaemia)
196
what 2 examples of lymphomas r there
hodgkin, non-hodgkin
197
what r the 3 other blood cancers in the other category of blood cancer
myelodysplasia, multiple myeloma, polycythaemia vera
198
what is leukaemia
cancer of white blood cells
199
explain the pathophysiology of leukaemia 3
1. immature blast cells uncontrollable proliferate
2. this take up space in bone marrow
3. the lack of space in the bone marrow means fewer healthy cells can mature and be released into the blood
200
what cells in the haematopoeitic pathways does each type of leukaemia affect (4)
CML: myeloid stem cell
AML: myeloblast
ALL: lymphoblast
CLL: B lymphocytes
201
what is the key characteristic for each leukaemia? (4)
(ALL): children younger than 6
(AML): auer rods
(CLL): smudge cells
(CML): philadelphia chromosome
202
what is ALL, what is the mutation
rapid proliferation of immature lymphoblasts
t(12:21)
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risk factor for ALL 1
downs
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presentation for ALL (5)
B SYMPTOMS (fever, night sweats, weight loss)
swollen testicles
hepatosplenomegaly
lymphadenopathy
HEADACHES/CN PALSIES (if infiltration of CNS)
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investigations for ALL (4) including the diagnostic
1. FBC: anaemia, thrombocytopenia, neutropenia
2. imagery (CXR/CT) which shows lymphadenopathy
3. >20% lymphoblasts on bone marrow biopsy (diagnosis)
4. can do a lumbar puncture in cases of CNS involvement
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what is treatment for ALL (4)
1. chemotherapy + allopurinol
2. blood/ platelet transfusion
3. antibiotics
4. bone marrow transplant
CABAB (like kebab)
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what is the most common leukaemia in children under 4
ALL
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what is AML and what is the mutation
rapid proliferation of immature myoleblasts
t(15:17)
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compare the prognosis/ mortality/ progression of AML and ALL
ALL- good prognosis
AML- high mortality if not treated ASAP due to fast progression
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risk factors for AML (2)
age (mostly presents in elderly)
chemotherapy
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presentation for AML (6)
bone marrow failure: thrombocytopenia, neutropenia, anaemia
infections
hepatosplenomegaly
gum hypertrophy
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2 investigations and results for AML
FBC= anaemia, thrombocytopenia
bone marrow biopsy-> auer rods in cytology (diagnosis) and >20% myeloblasts
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what r auer rods
MPO aggregrates in neutrophils cytoplasm
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treatment for AML (4)
1. chemotherapy + allopurinol
2. blood/ platelet transfusion
3. antibiotics
4. bone marrow transplant
215
why is allopurinol always given with chemo in AML and ALL
prevent tumour lysis syndrome-
where chemo releases uric acid form cells which accumulates in the kidneys
216
what is CLL and what happens to the cells
proliferation of B lymphocytes
accumulation of incompetent lymphocytes due to failure of cell apoptosis
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risk factors for CLL 2
male
elderly
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presentation of CLL (4)
often asymptomatic
lymphadenopathy
might have night sweats and weight loss (due to bone marrow failure)
219
what is the most common leukaemia in adults
CLL
220
investigations and results for CLL (2)
FBC= anaemia, thrombocytopenia, leukocytosis
blood film= smudge cells
221
treatment for CLL (3)
watch and wait in early stages
chemotherapy (rituximab)
stem cell/ bone marrow transplant
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complication for CLL and multiple myeloma (and what is it)
Richter transformation- cancer becomes more aggressive
223
what is CML from what cell
uncontrollable proliferation of myeloblasts from the myeloid stem cell
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what age is CML most common in
most common in adults over 40
225
what gene mutation is CML associated with
philadelphia chromosome translocation gene mutation (BCR-ABL gene)
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presentation of CML (8)
hepatosplenomegaly
hyper viscosity: headaches, thrombotic events
bone marrow failure: thrombocytopenia, neutropenia, anaemia
B symptoms
gout
227
investigations for CML (2)- what is diagnostic
FBC= anaemia, thrombocytopenia, leukocytosis
genetic testing for BCR ABL (diagnostic)
228
treatment for CML (3)
1. tyrosin kinase inhibitors (imantinib)
2. chemotherapy
3. stem cell/ bone marrow transplant
229
what is a lymphoma and what cell does it involve
cancer of lymph nodes
proliferation of lymphocytes in lymph nodes
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risk factors for lymphoma (6)
EBV virus
SLE
HIV
Sjorgens
Age
immunosupression
(2 infectious, 2 about u and 2 conditions)
231
presentation of lymphoma (2)
lymph tissue enlargement: hepatomegaly/ splenomegaly/ lymphadenopathy
B symptoms: fever, night sweats, weight loss
232
which type of lymphoma is more common and which is more predictable in its progression
non-hodgkin= more common
hodgkin= more predictable
233
compare where hodgkin and non-hodgkin lymphomas arise
non-hodgkin: arise in any lymph node
hodgkin: typically start in upper body eg neck/ chest
234
compare the presentation of hodgkin and non-hodgkin lymphoma
both have B symptoms but non-hodgkin has painless lymphadenopathy and hodgkin has painful lymphodenopathy upon alcohol consumption
235
investigations for hodgkin and non-hodgkins
ESR is raised
imaging (CXR/CT) for staging
lymph node biopsy= Reed Sternburg cells in hodgkin, no RS cells in non-hodgkin
236
what are the 3 types of non hodgkin lymphoma and their grades
low grade= follicular
high grade= diffuse B cell
very high grade= Burkitt’s
237
compare age incidence for hodgkin and non-hodgkin
hodgkin= bimodal distribution (peaks in early 20s and then in 70s)
non-hodgkin= predominately affects adults over 40
238
treatment for hodgkin lymphoma (4)
ABVD chemotherapy
adriamycin, bleomycin, vinblastine, dacarbazine)
239
treatment for non-hodgkin lymphoma (6)
R-CHOP chemotherapy
(rituximab, cyclophosphamide, hydroxy-daunorubicin
vincristine (oncovin=brand name) , prednisolone)
240
compare skin changes in hodgkin and non-hodgkin
H= skin excoriations
NH= skin rashes eg mycocis fungoides
241
compare neutrophil levels in hodgkin and non-hodgkin
H= neutrophilia
NH= nuetropenia
242
what staging scale is used for lymphomas
Ann Arbor staging
243
explain the 4 stages of Ann Arbor staging
Stage 1: disease in one area only
Stage 2: disease in 2 or more areas on the same side of the diaphragm
Stage 3: disease in 2 or more areas on both sides of diaphragm
Stage 4: disease spread beyond the lymph nodes
244
what is multiple myeloma
too much immunoglobulin released by abnormal plasma cells usually either IgA or IgG
245
what is the precursor of multiple myeloma
close link to monoclonal gammopathy of undetermined significant (MGUS)
MGUS is a precursor to multiple myeloma
246
what age does MM usually occur in 1
predominately occurs over the age of 40 years old
247
complication (and stats) for MM (2)
1% of cases undergo richter transformation
248
risk factors for MM (2)
age
African/Caribbean origin
249
presentation of MM (5)
OLD CRAB
old= 70+
hypercalacemia (increase osteoblast bone resorption= bones, stones, moans and groans)
renal failure
anaemia (BM failure)
bone lesions (BM failure= painful new onset back pain in elderly)
250
5 investigations for MM (6)
FBC – high Ca
Blood Film – Rouleaux Formation
BM biopsy – Plasma Cells > 10%
serum/ urine electrophoresis- bence jones protein in urine and hypergammaglobulinaemia for specific raised Ig and IgM spike
251
treatment for MM 3)
chemotherapy
bisphosphonates (zoledrenic acid)
BM transplant
252
what is polycythemia, what does this lead to and what r the 2 types
high concentration of erythrocytes in blood which causes hyper-viscosity of the blood
relative and absolute
253
what is relative polycytheamia
normal number of erythrocytes but reduction in plasma
254
what r the causes of relative polycytheamia (3)
obesity, dehydration and excessive alcohol consumption
255
what is absolute polycythaemia and what r the two types
increased number of erythrocytes
primary and secondary polycytheamia
256
what is primary polycythaemia and what is the alternative name to this
abnormality in the bone marrow
called polycythaemia vera
257
what is secondary polycythaemia
disease outside bone marrow causing overstimulation of bone marrow
258
causes of secondary polycythaemia (5)
COPD, sleep apnoea, polycystic kidney disease, renal artery stenosis, kidney cancer
259
what type of condition is polycythaemia vera
myeloproliferative neoplasm (BM makes too many of RBCs)
260
what mutation is polycythaemia and polycythaemia vera linked with
most people with this condition have a JAK2 mutation
261
presentation of polycythaemia vera (6)
headaches
blurred vision
red skin (hands, face and feet)
hypertension
indicate polycythaemia vera as the cause: itching especially after contact with warm water, hepatosplenomegaly
3 high ribs
262
2 investigations for polycythaemia vera and results (4:3, 1)
FBC: high RBCs, high platelets, low serum erythropoietin (can be normal or increased in other types of polycythaemia)
genetic testing- JAK2
263
treatment for polycythaemia vera (3) and what is the general aim
1. venesection AND low dose aspirin daily
2. hydroxycardamide: for those at high risk of thrombus
aim: to maintain a normal blood count
264
what two things does EBV cause 2
glandular fever
infectious mononucleosis
265
how does EBV spread 1
bodily fluids
266
associations of EBV 3
hodgkins, burkitts, nasopharngeal carcinoma
267
investigations of EBV 1
atypical lymphocytes on blood film
268
what is significant about malaria 1
notifiable protozoal infection
269
what is malaria a differential for 2
feverish patients with recent travel history
270
symptoms of malaria 3
fever, haemolytic anaemia, hepatosplenomegaly
271
investigations for malaria 1, positive result and what is the procedure for someone to test negative 1 (who was previously positive)
thick and thin blood smears- + result is identifying the pathogen under the microscope
3 separate negative reading required for a negative declaration
272
treatment for malaria 2 and if severe 1 (side effect of first treatment
quinine (SE= hypoglycaemia) and doxycycline (antimalarials)
severe= IV artesunate
273
investigations for HIV 3
1. history
2. antiHIV immunoglobulins (ELISA)
3. p24 antigens (ELISA)
274
investigation to monitor progression of HIV 2
CD4 count and HIV RNA copies
275
treatment aim for HIV 2
maintain CD 4 count and reduce number of HIV RNA copies
276
what value defines AIDs
CD4+ <200 cells/mm3
277
name the 4 steps of HIV progression (with CD4 count trend)
1. primary infection: CD4 dip then up set point
2. clinical latency: CD4 peak (lower than pre-infection)
3. symptoms and reduction in CD4 count
4. AIDS- lowest CD4 count
278
what test is needed for specifically haemolytic anaemia and what r the two results
urine test-
high urobilinogen and high bilirubin
279
what puts u at a higher risk of developing autoimmune haemolytic anaemia 1
any other autoimmune condition eg SLE
280
how does hydroxycarbamide help in sickle cell 2
makes your RBCs bigger and less sickled shape
281
appearance of beta thalassaemia major erythrocytes under blood film 2
large and small irregular hypochromic RBCs
282
what pathogen has the highest rate of human death from all malarias 1
plasmodium falciparum
283
treatment for beta thalassaemias
all require lifelong transfusions except beta thalassaemia minor
284
compare how alpha and beta thalassaemia r diagnosed 1, 1
alpha thalasaemia diagnosed with HB electrophoresis and beta with blood film
285
what is the major risk factor for thyroid eye disease in patients that have graves
smoking
286
what does presenting with a fever 1-2 weeks after chemo indicate and what is the treatment for this
neutropenic sepsis- treat immediately with IV piperacillin with tazobactam
287
what two things indicate von willebrands disease
personal and family history of prolonged bleeding
288
what indicates DIC specifically 1
bleeding from lots of different areas eg eyes, mouth, ears ets
289
what doe beta thalassaemia show on blood film
target cells
290
what is rituximab specific to 2 and what does it do 1
specific to CD20 on b lymphocytes and causes their death
291
what two things that present together in a child indicate sickle cell disease
dactylitis (inflammation of finger/ toe) and fever
