geeky medics Flashcards

1
Q

thalassaemias is a group of genetic disorders that lead to

A

reduced haemoglobin in red blood cells

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2
Q

alpha genes located on chromosome

A

16

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3
Q

beta chains located on chromosome

A

11

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4
Q

alpha thalassaemias will cause an excess of

A

unpaired beta globin chains and vice versa

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5
Q

when 4 alpha globin genes are affected in thalassaemia it can lead to

A

hydrops fetalis

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6
Q

blood film of the thalassaemia show what

A

hypochromic, microcytic

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7
Q

hair on end appearance can be seen on xray in

A

thalassaemia

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8
Q

what is differentiates thalassaemias from iron deficiency anaemia

A

thalassaemia has normal ferritin

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9
Q

what is LFTs are raised in thalassaemias

A

isolated hyperbilirubinemia

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10
Q

what stippling can be seen in thalassaemias

A

basophil

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11
Q

mx for thalassaemias

A

regular red cell transfusions to maintain haemoglobin levels

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12
Q

what supplements can be given for thalassaemis

A

folic acid

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13
Q

thalassaemias inheritance pattern

A

autosomal recessive

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14
Q

are there the same amount of alpha and beta genes

A

no there is twice as many alpha genes

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15
Q

hypsplenism increases the risk from infection of what

A

pneumococcal

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16
Q

leading cause of death in thalassaemias

A

heart failure secondary to iron induced cardiomyopathy

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17
Q

Vitamin B12 is called

A

cobalamin

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18
Q

folate is vitamin …

A

B9

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19
Q

pica and restless leg syndrome can be seen in

A

iron deficiency

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20
Q

there is a direct correlation between serum ferritin and

A

overall iron stores in health however serum ferritin is also an acute phase protein

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21
Q

in suspected iron deficiency anaemia. initial screening investigations should include

A

FBC, CRP and seum ferritin

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22
Q

if iron deficiency the body will produce more what

A

transferrin

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23
Q

what can predict iron response in patients with CKD

A

Mean reticulocyte haemoglobin

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24
Q

serum iron is useless. it only measures iron in what state

A

ferric - FE3

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25
what is a negative acute phase protein and so decreases in inflammatory states
transferrin
26
what can help distinguish anaemia of chronic disease from iron deficiency anaemia
soluble transferrin receptors
27
what can also present with glossitis
vit b12 deficiency
28
drugs that can decrease levels of vitamin B12
Metformin, anti-convulsants, proton pump inhibitors/H2 antagonists, hormone replacement therapy/combined oral contraceptive pill, colchicine and certain antibiotics
29
patients who have undergone what surgery can often develop vitamin B12 deficiency
gastric or bariatric
30
what is the primary investigation for vitamin B12 deficiency
serum cobalamin
31
blood film may show macrocytosis, hyperhsegmented neutrophils and oval macrocytes in
vit B12 defieicny
32
if vit B12 deficiency ans has FH of --- or personal history of autoimmune condition investigate for
pernicious anaemia
33
once treatment of IM bit B12 injections what should increase in the first 7-10 days
reticulocyte count
34
where is folate absorbed
terminal ileum
35
half of the bodies folate is found where
liver
36
what is important in DNA synthesis
folate
37
class of medications that can cause folate deficiency
anti epileptics
38
average human has how many litres of blood
5
39
what is the majority of blood
plasma
40
the Buffy coat consist of
leukocytes and platlets
41
what are the most numerous of the leukocytes
neutrophils
42
what are the most common agranular leukocyte
lymphocytes
43
what cells eradicate virus infected cells
NK
44
kupffer cells of the liver or microglia of the CNS are what kind of cells
macrophages
45
triad of hyperviscocity syndrome
visual changes, mucosal bleeding and neurological symptoms
46
plasma mostly consists of
water
47
ABO gene is on chromosome
9
48
if not given anti d infections in negative mother and positive baby the next baby could get
haemolytic disease of the newborn
49
what invasive procedure might mean you need to give anti D
amniocentesis
50
what is the only antibody that can cross the placenta
IgG
51
ABO antibodies are typically
IgM
52
an ideal blood transition would have
identical ABO and Rh group
53
what is emergency blood that can be given to everyone
O negative blod
54
what are not being transfused in plasma exchange
antigens
55
what is the universal donor for plasma
AB
56
factor II is usually referred to as
thrombin
57
what mediates the extrinsic pathway
tissue factor
58
in the extrinsic pathway, tissue factor combines with factor 7 to form a complex that activates factor
10
59
factor 10a combines with factor 5 and some other stuff to convert prothrombin into
thrombin (common pathway )
60
common pathway activates what factor
10
61
things that inhibit the coagualtion cascade
Protein C, S, antithrombin
62
when warfarin treatment is initiated what must also be prescribed alongside until the INR is in target range
LMWH
63
prothrombin time for what pathway
extrinsic
64
causes of prolonged PT
DIC, vit K deficiency and chronic liver disease
65
what is the vitamin K dependent clotting factor with the shortest half life
7
66
prothrombin time forms the basis of what ratio
INR
67
INR monitors the levels of
anticoagulation
68
causes of a prolonged APTT
DIC, haemophilia, lupus anticoagulant, von willebrands disease
69
activation of what clotting factor leads to the conversion of prothrombin into thrombin
10
70
what is the % of blood that is made up by red cells
haematocrit
71
3 key causes of secondary polycythaemia to remember
COPD, OSA, cushings syndrome, alcohol
72
relative polycythameias can be caused by
low fluid intake or burns (states of excess fluid loss)
73
other cause of macrocytic anaemia
myeloma
74
raised what can lead to hyper viscosity syndrome
haematocrit
75
what is anisocytosis
red cells of varying sizes
76
what reticulocyte count implies a problem with the bone marrow
low
77
other causes of leukocytosis
steroids, acute leukemias
78
what white cells account for the majority of them in the blood
neutrophils and lymphocytes
79
a cause of lymphopenia
HIV
80
when basophilia is present alongside elevated neutrophil and eosinophil counts or if the elevation is significantly above the normal range, this should raise the suspicion of
myeloproliferative disorder
81
blasts are usually only found in the bone marrow and high numbers in circulating blood could be caused by a
leukaemia
82
platelets are what shaped
disc
83
pregnancy causes of acute thrombocytopenia
pre eclampsia
84
cause of chronic thrombocytopenia
HIV
85
what haemolysis is more common
extravascular
86
extravascular haemolytic occurs primarily in the
spleen
87
if intravascular haemolytic predominates the patient may complain of what ... due to haemoglobinuria
back pain and dark urine
88
in haemolytic anaemia, urinalysis will show
increased urinary urobilinogen, but conjugated bilirubin will be negative
89
The presence of blood on a dipstick urine sample but the absence of red cells on microscopy suggests haemoglobinuria, which is seen in
intravascular haemolysis
90
what is a non specific marker of cell turnover and is significantly raised in haemolytic
serum lactate dehydrogenase
91
what lab features may show in intravascular haemolysis
decresed plasma haptoglobin and urine dipstick may show haemoglobinuria
92
is a protein that ‘mops up’ free circulating haemoglobin so that it can be removed by the liver. It will therefore be reduced in intravascular haemolysis as a large amount of free haemoglobin is present in the circulation.
haptoglobin
93
what may occur after several weeks of intravascular haemolysis
haemosiderinuria
94
what can be detetected in the urine at least one week after onset of haemosideruria
Prussian blue staining
95
what is when haptoglobin capacity is depleted and free haemoglobin accumulates in the renal tubules
haemosiderinuria
96
what test is an important part of the haemolysis screen
Direct Coombs test
97
The Direct Coombs test identifies red cells coated with... , which suggests an immune cause for the haemolysis
antibody or complement components
98
what can a hypo chromic microcytic indicate
thalassaemia
99
what are schistocytes
fragments of red blood cells
100
schistocytes are seen in the microangiopathic haemolytic anaemia eg
(TTP, HUS, HELLP, and DIC).
101
what is the other that spherocytes might be seen in
autoimmune haemolysis
102
heinz bodies and bite cells may be seen in
G6PD deficiency
103
what is an important cause of autoimmune haemolytic anaemia
CLL
104
in sickle cell disease what agent reduces haemolysis and crises
Hydroxycarbamide
105
... is also given as standard in chronic haemolysis even if levels are normal
folate
106
mutation in what gene in primary polycythaemia
JAK2
107
2 rf for polycythaemia
advancing age or Budd chairi syndrome
108
itch particularly after a hot bath
polycythaemia
109
Erythromelalgia: burning pain, warmth and redness in the hands and feet
polycythaemia vera
110
in pts with polycythaemia are most thromboses venous or arterial
arterial
111
what on blood are commonly seen in patients with polycythaemia vera
neutrophilia and thrombocytosis
112
management that is given for polycythaemia vera
phlebotomy, aspirin, hydroxycarbamide
113
...It is usually diagnosed by the presence of a raised haematocrit OR red cell mass plus the presence of the JAK2 mutation.
polycythaemia vera
114
in severe --- there is paradoxically simultaneous thrombosis and spontaneous bleeding
DIC
115
an other cause of DIC
acute pancreatitis
116
typical symptoms of DIC
- bleeding from unusual sites (bleeding from 3 unrelated sites is highly suggestive of DIC) - widespread or unexpected bruising with no history of trauma - new confusion or disorientation (a sign of microvascular thrombosis affecting cerebral perfusion)
117
sign of DIC
- bleeding from cannula/venepuncture sites lived reticualris
118
IN FBC of DIC there is typically
thrombocytopenia
119
what prolongs both PT and APTT
DIC
120
what kind of fibrinogen is decreased in DIC
clauss
121
how to distinguish DIC from acute hepatic failure
acute hepatic failure may have mild increased d -dimer but would be markedly so in DIC. platelets may be low in both but in DIC will fall over time whereas more likely to be stable in acute liver failure
122
d - dimers is markedly elevated in
DIC
123
key features of help Syndrome
hypertension, deranged LFTs and thrombocytopenia
124
what is fibrinogen like in DIC
low
125
an other cause that can have prolonged Pt and APTT and low fibrinogen
post thrombolysis (treatment with alteplase)
126
transfusion of what may be given if fibrinogen is low
cryoprecipitate
127
Any patient over --- with iron deficiency anaemia requires an upper and lower gastrointestinal endoscopy.
40
128
what is the only investigation finding that is high in iron deficiency anaemia
total iron binding capacity
129
sideroblastic anaemia is characterised by defective -- synthesis
protoporphyrin
130
classic clinical features of chipmunk facies and a crew cut appearance on xray
thalassaemias
131
what is normal in thalassaemias but low in iron deficient anaemia
ferritin
132
ferritin in high in anaemia of chronic disease due to build up of stores from
hepcidin
133
what allows for the differentiation between the causes of haemolysis or underproduction in normocytic anaemia
reticulocyte count
134
what acute phase protein is produced in anaemia of chronic disease
hepcidin
135
the only thing that is high in anaemia of chronic disease
ferritin
136
what is is due to a defect of RBC cytoskeleton membrane proteins such as ankyrin or spectrin
Hereditary spherocytosis
137
what is often performed to treat hereditary spherocytosis
splenectomy
138
what 2 things are increased in hereditary spherocytosis and in sickle cell disease and in G6PD deficiency and immune haemolytic anaemia
reticulocyte count and serum uric acid
139
sickle cell anaemia occurs due to an autosomal recessive mutation in the beta-globin chain of haemoglobin, causing -- to replace glutamic acid.
valine
140
target cells and Howell jolly bodies may be seen in
sickle cell anaemia
141
investigations findings in paroxysmal nocturnal haemoglobinuria
reticulocyte count is normal but serum uric acid is increased
142
normally G6PD creates ---- which in turn creates reduced glutathione to protect the cell from oxidative stress
NADPH
143
IgM mediated haemolysis is usually --- and igG mediated haemolysis is usually ---
intravascular, extravascular
144
microangiopathic haemolytic anaemia can occur due to
microthrombi, prosthetic heart valves and aortic stenosis
145
which type of macrocytic anaemia is due to impaired DNA synthesis
megaloblastic
146
what can be used to differentiate megaloblastic and non megaloblastic macrocytic anaemias
serum homocysteine and methylmalonic acid
147
what is the most common cause of vitb12 deficiency
pernicious anaemia
148
The main difference in clinical manifestation between folate and vitamin B12 deficiency are the neurological symptoms that occur in B12 deficiency, due to elevated levels of --- acid.
methymalonic
149
Causes of non megaloblastic macrocytic anaemia include alcoholism, hypothyroidism, reticulocytosis, and drugs such as
fluorouracil
150
serum homocysteine is normal in
non megaloblastic macrocytic anaemia
151
The -- is useful for determining whether normocytic anaemia is resulting from increased destruction of RBCs or decreased production.
reticulocyte count
152
Serum methylmalonic acid and homocysteine levels are useful to distinguish between subtypes of -- anaemia.
macrocytic
153
what is the most common rf for AML
myelodysplastic syndrome however in the majority of cases it appears as a de novo malignancy
154
Auer rods in AML are
pink/red rod-like granular structures in the cytoplasm
155
In AML, the bone marrow is usually
hypercellular
156
method that can identify circulating myeloblasts by characteristic patterns of surface antigen expression
Flow cytometry
157
mainstay of treatment in AML is
chemotherapy
158
3 most common chemotherapeutic agents used in AML
-cytarabine -Daunorubicin - all trans retinoic acid
159
what is antibiotic prophylaxis against pneumocystis pneumonia
co- trimoxazole
160
when cancer cells break down quickly in the body, levels of uric acid, potassium, and phosphorus rise faster than the kidneys can remove them
tumour lysis syndrome
161
when proteins that control blood clotting become overactive. This can cause blood clots in small vessels and hypo-perfusion of organs. It can also cause clotting proteins to be consumed, leading to an elevated risk of serious bleeding.
DIC
162
chemo agent used in lymphoma and leukaemia
Cytarabine
163
2 chemo agents used in ALL
6 mercaptopurien and azathioprine- measure thiopurine methyltransferase before prescibing either of these
164
methotrexate is a
folate antagonist
165
hydroxyurea is used in
CML
166
Chlorambucil is used in hodgkins lymphoma and CLL. side effect is
pulmonary fibrosis
167
chemo agent used in multiple myeloma
Melphalan
168
when is warfarin the anticoagulant of choice
mechnanical heart valves valvualr atrial fib end stage renal failure
169
DOACs inhibit how many clotting factos
one
170
dabigatran is a DOAC than inhibtis
thrombin
171
Rivaroxaban, apixaban and edoxaban are DOACs that inhibit what single blood clotting factor
Xa
172
what is a contraindication for warfarin
malignancy
173
INR is a standardised version of the
prothrombin time
174
The INR targets is slightl higher for
mechanical heart valves
175
how many days should heparin also be prescribed when initiating warfarin
5 days
176
3 drugs that can increase potency of warfarin
amiodarone, metronidazole and clarithromycin
177
2 drugs that can decrease the efficacy of warfarin
phenytoin and carbamazepine
178
what fruit can increase the potency of warfarin
cranberreis
179
what system in the liver metabolsies warfarin
Cytochrome P450
180
what condition is autosomal recessive and there is a switch from glutamic acid to valine
sickle
181
when does sickle cell anaemia features begin
between 3-6 months
182
what are the msot common reason for hospital admission in Sickle cell anaemia
vaso oclusive crises
183
aplastic crisis usually precipitated by parovirus and what happens
temporary cessation of erythropoiesis
184
sequestration crisis is defined as
sudden enlargement of the spleeen due to haemorrhage
185
how to differentiate thalassaemias from sickle cell anaemia
haemoglobin electrophoresis
186
in sickle cell anaemia there is no what type of haemoglobin
adult
186
target ceclls and howell jolly bodies can often be seen in
sickle
187
what antibiotic prophylaxis in sickle
oral penicillin
188
what supplementation is given in sickle to prevent severe anaemia
folic acid
189
what is a once daily medication which increases HbF production and thus reduces the proportion of HbS in sickle
hydroxycarbamide
190
sickle cell anaemia is diagnosed by
haemoglobin electrophoresis
191
Hodgkins lymphoma arises from what cells
B lymphocytes
192
difference between Reed Sternberg cell and malignant hodgkins cells
R- multi nucleated hodgkins - mon nucleated
193
most common Hodgkins lymphoma
nodular sclerosis
194
what is common in Nodular sclerosis HL
mediastinal mass
195
estimated around 40% of HL are related to what infection
EBV
196
what are B symptoms in HL
fever, drenching night sweats and unintentional weight loss of greater than 10% in the last 6 months
197
alcohol induced pain at nodal sites is a textbook symptom of what
HL
198
what is the gold standard for staging in HL
PET -CT
199
what is required for diagnosis and classification of HL type
lymph node excision biopsy
200
what antigens are expressed on Reed Sternberg cells
CD15 and 30
201
why does irradiated blood need to be used for HL patietns
reduces the risk of transfusion associated graft versus host disease
202
drug that reduce absoption of iron
tetracyclines/quinolones and PPIs
203
less common symptoms of iron deficiency anaemia
restless leg syndrome , pica
204
Plummer vinson syndrome has a triad of
atrophic glossitis, oesophageal strictures, iron deficiency anaemia
205
other than iron deficiency anaemia what other conditions can cause microcytic, hypochromic
thalassaemia, sideroblastic anaemia
206
hyperchromic microcytic anaemia is rare and caused by
hereditary spherocytosis
207
reduced what indicates hypochromia
MCH - mean corpuscular haemoglobin
208
other findings from blood film in iron deficiency anaemia
anisocytosis (cells differ in size) and shape (poikilocytosi s)
209
when do you do further GI investigations for GI malignancy if iron deficient and worries about malignancy
60 years or over Premenopausal women with bowel symptoms Family history of gastrointestinal cancer Persistent anaemia despite treatment
210
what to do if over 60 with iron deficiency anaemia
urgent 2 week referral
211
how long should you take iron supplements after the deficiency is corrected
for 3 months (to replenish stores)
212
what can help reduce the side effects of iron supplemements
taking them with food
213
key features that distinguishes most lymphomas from leukemia
lymphomas - mature lymphcytes that arise within sites outside of the bone marrow leukemia- develop from immature blasts from within the bone marrow exception to this rule are the lymphoblatic lymphomas which develop from immartuer percursor lymphoblasts similarly to leukemia
214
what is the type of non classic NHL
nodular lymphocyte predominant HL
215
NHL is more common in what gender
boys
216
B cell NH usually affects lymph nodes where
abdomen
217
T cell NHL usually affects lymph nodes where
chest
218
examples of high grade lymphomas
burkitts, large B cell, anaplastic large cell
219
examples of low grade lymphomas
follicular, marginal zone
220
what is the most common cause of lymphadenopathy in children
infection
221
what lymphoma has more rapidly growing bulky lymphadenopathy
non hodgkins
222
hodgkins lymphoma typically affects
cervical, supraclavicular and axillary
223
what classification is used for NHL
St Jude classification
224
what HL is slow growing but has a high risk of transforming to high grade NHL
nodular lymphocyte predominant HL
225
what is the mainstay of treatment for both kinds of lymphoma and leukemia
chemo
226
lymphoblastic lymphoma howevere is treated with chemo that is used for
ALL
227
rituximab can be used in what kind of lymphoma
NHL
228
what is the only thing that is low in tumour lysis syndrome
calcium
229
what can be given prior to chemo to reduce chances of tumour lysis syndrome
hydration, allopurinol, rasburicase
230
what should be excluded before giving rasburicase
G6PD deficiency
231
what is the most common type of cancer in children, accounting for 31% of all childhood cancer
leukemia
232
does acute or chronic leukemia involve more immature cells
acute
233
what leukemia can have chronic phase, accelerated phase and blast crisis phase
CML
234
if a child presents with either of these 2 symptoms should get an urgent specialist for leukemia
unexplained petechiae, unexplained hepatosplenomegaly
235
blast cells should not be seen where
peripheral blood
236
what lab investigations are needed before starting chemo in leukemia pts
baseline kidney and liver function
237
why is a CXR really important to do in lymohoma/ leukemia
to see if there is a mediastinal mass is present
238
cytogenetics detects what
chromosomal abnormilites
239
lumbar puncture with what aims to prevent spread of leukemia to CNS
methotrexate
240
what antibiotic is givent to prevent infection with pneumocystis jirovecii in ALL
co-trimoxazole
241
allopurinol can be given in leukemia to prevent
tumour lysis syndrome
242
haemophilia gene mutation are on what chromosome
X and are recesive
243
can haemophilia be acquried
yes ocassioanly in malignnacy
244
what happens in haemostasis before primary haemstasis
blood vessel vasoconstriction
245
what 2 chemicals do platelets release to activate other platelets in a postive feedback mechanism
ADP and thromboxane A2
246
what turns prothrombin into thrombin
activated factor X
247
factors 8 and 9 in terms of haemophilia relate to what pathway
intrinsic
248
drugs that can precipitate bleeding in mild haemophilia
NSAIDs or aspirin
249
deficiencies in haemophilia can affect what clotting screen
APTT - as it relates to the intrinsic pathway
250
analgesia is given for pain in haematomas and haemarthroses in haemophilia but what should be avoided as they increase the risk of GI bleeding
NSAIDs
251
can treat acute haemophilia bleeds with what
desmopressin
252
what would a son and daughter of a haemophilia patient have
daughter would be a carrier and the son would be unaffected as they inherit their fathers normal Y chromosome
253
risk of children getting haemophilia of a female carrier
50% chance the daughter will be a carrier and 50% chance the son will be affected
254
chorionic villus sampling can be done when and what about for amniocentesis
CV- 11-14 weeks amniocentesis - 15-20 weeks
255
neutropenic sepsis most commonly occurs how many days after chemo
7-10
256
emperical antibiotic treatment should be startedd within how long in cases of neutropenic sepsis
1 hr
257
platelets look like what
disc shaped cell fragments
258
average lifespan of a platelet
5 days
259
ADAMTS13 relates to
TTP
260
pts with thromboctyopenia should avoid what medications
NSAIDs
261
what can increase clot stability and reduce the risk of bleeding
Tranexamic acid
262
what is the first factor in the intrinsic pathway
12
263
what is the first factor in the extrinsic pathway
7
264
what breaks down clots
plasmin
265
APTT can indicate issues with what clotting factors
8,9 and 11
266
how do all anticoagualnts affect the PT/INR and APTT
increase them
267
how do platelets affect PT or APTT
wont affect them
268
paraproteins are what
abnormal light chains which can cause damage to the kidneys
269
what condition produces paraprotein
multiple myeloma
270
most myelomas produce what type of immunoglobulin
igG
271
common areas to get bone pain are
spine and ribs
272
lytic lesions have what appearance on a xray
punched out lesions ( the skullk can appear to have a pepper pot appearnace)
273
what is the anaemia normally like in multiple myeloma
normocitic and normochromic
274
increase of what in multiple myeloma
phosphate - can cause itch or muscle cramping
275
hyperviscocity that can happen in multiple myeloma can have what symptoms
headaches and visual disturbances
276
blood film in multiple myeloma can show rouleaux formation. What is this
red cells stacked on top of each other
277
what levels are good in multiple myeloma for assessing response to treatment and can identify relapse of disease before the onset of clinical symptoms
free light chain
278
smouldering myeloma does not have
end organ damage
279
how to treat smouldering myeloma
nothing at first just watch and wait
280
difference in multiple myeloma mx based on if you are under or over 65
under 65- chemo +stem cell transplant over 65- chemo
281
in CML there is uncontrolled growth of myeloid cells and these can spill into the peripheral blood showing abnornmally riased levels of mature granulocytes such as
neutrophils, basophils and eosinophils
282
gene that is formed in CML
BCR- ABL
283
in peripheral blood film: all stages of granulocyte maturation noted
CML
284
in CML what is necessary to stage the disease and what enables confirmation of the diagnosis
stage - bone marrow aspiration and confirm - cytogenic sampling (philidelphia chromosome)
285
methods of identfying the Philidelphia chromsome
FISH and then PCR for the BCR-ABL gene
286
order of stages in CML
chronic then accelerated then blast
287
what % of blasts in accelerated vs blast phase in CML
a- 10-19 b- >20
288
what targets BCR-ABL in CML
tyrosine kinase inhibitor eg Imatinib