Term
| acute intermittent porphyria |
|
Definition
AD condition. defect in porphobilinogen deaminase involved in making of haem.
results in the toxic accumulation of delta aminolaevulinic acid and porphobilinogen.
> common in females. presents with abdo pain and neuropsychiatric symptoms. |
|
|
Term
| what are the features and diagnosis of acute intermittent porphyria? |
|
Definition
features:
abdo pain, vomiting
motor neuropathy
depression
HTN and tachycardia
diagnosis
urine turns deep red on standing
raised urine porphobilinogen (raised between attacks and more during acute attacks)
assay of red cells for porphobilinogen deaminase
raised serum levels of delta aminolaevulinic acid and porphobilinogen |
|
|
Term
| Acute myeloid leukaemia is the more common form of acute leukaemia in adults. what suggest poor prognostic factors in this cancer? |
|
Definition
> 60 years age
> 20% blasts after 1st course of chemo
deletions of chromosome 5 or 7 |
|
|
Term
|
Definition
French-American-British (FAB)
MO - undifferentiated
M1 - without maturation
M2 - with granulocytic maturation
M3 - acute promyelocytic
M4 - granulocytic and monocytic maturation
M5 - monocytic
M6 - erythroleukaemia
M7 - megakaryoblastic |
|
|
Term
| acute promyelocytic leukemia has good prognosis staged at M3. what are some characteristics of this type? |
|
Definition
associated to t15:17
there is fusion of PML and RAR alpha genes
presents younger than other types of AML (25 years)
AUER RODS can be seen with myeloperoxidase stain
there is DIC or thrombocytopenia often at presentation |
|
|
Term
in which type of AML might you see AUER rods,
what stain do you need to see them? |
|
Definition
auer rods seen in acute promyelocytic leukaemia (M3)
you need to use myeloperoxidase stain. |
|
|
Term
AIHA warm type.
what are the properties.
which Ig is implicated
what are the causes
what are the rx? |
|
Definition
IgG implicated. causes hemolysis at body temp
hemolysis occurs at extravascular sites e.g the spleen
mx: steroids, immunosupression and splenectomy
causes of warm AIHA
AI disease e.g. SLE
cancer: lymphoma, CLL
drugs: methyldopa |
|
|
Term
Cold AIHA
which antibody is involved?
what temperature is hemolysis achieved best?
what mediates hemolysis. is it intra or extravascular?
what other features may be evident?
what are the causes of this type of anaemia? |
|
Definition
IgM
hemolysis best at 4 degrees
mediated by compliment, more commonly intravascular
features may include Raynauds and acrocyanosis
Pts respond less well to steroids
Causes:
cancer: lymphoma
infections: mycoplasma, EBV
*systemic lupus erythematosus can rarely be associated with a mixed-type autoimmune haemolytic anaemia |
|
|
Term
what are warm and cold types of AIHA?
what is AIHA characterised by? |
|
Definition
they are divided into these groups according to what temperature the antibodies best cause hemolysis.
AIHA is characterised by a positive direct antiglobulin test (Coombs' test) |
|
|
Term
Cold AIHA
which antibody is involved?
what temperature is hemolysis achieved best?
what mediates hemolysis. is it intra or extravascular?
what other features may be evident?
what are the causes of this type of anaemia? |
|
Definition
IgM
hemolysis best at 4 degrees
mediated by compliment, more commonly intravascular
features may include Raynauds and acrocyanosis
Pts respond less well to steroids
Causes:
cancer: lymphoma
infections: mycoplasma, EBV
*systemic lupus erythematosus can rarely be associated with a mixed-type autoimmune haemolytic anaemia |
|
|
Term
what are warm and cold types of AIHA?
what is AIHA characterised by? |
|
Definition
they are divided into these groups according to what temperature the antibodies best cause hemolysis.
AIHA is characterised by a positive direct antiglobulin test (Coombs' test) |
|
|
Term
| what conditions are associated with target cells? the cells look like targets |
|
Definition
Sickle-cell/thalassaemia
Iron-deficiency anaemia
Hyposplenism
Liver disease |
|
|
Term
| what cells might we see in some one with liver disease, hyposplenism or thalassemia? |
|
Definition
target cells
this is also seen in
sickle cell
iron def anemia |
|
|
Term
whats the fancy word for tear drop shaped rbc?
in which condition might we see it? |
|
Definition
name: tear drop Poikilocyte
condition: myelofibrosis |
|
|
Term
| spherocytes are sphere shaped cells rather than the normal biconcave shape. in what conditions might we see these cells? |
|
Definition
hereditary spherocytosis
AIHA |
|
|
Term
| in lead poisoning what might we see in the blood film? |
|
Definition
basophilic stippling.
also seen in
Thalassemia
myelodysplasia
sideroblastic anemia |
|
|
Term
howell Jolly bodies are associated with what condition?
(where the rbi still has dan (nucleus) left inside) |
|
Definition
|
|
Term
| what are heinz bodies suggestive of? (inclusions in rbc made of denatured Hb) |
|
Definition
alpha thallasemia
G6PD deficiency |
|
|
Term
schistocytes AKA helmet cells are found in which conditions?
(fragmented rbcS) |
|
Definition
DIC
intravascular hemolysis
mechanical heart valve |
|
|
Term
| when might you see pencil shaped poikilocytes? |
|
Definition
|
|
Term
spiky Burr cells are seen in which conditions?
what are they also known as? |
|
Definition
uremia
pyruvate kinase deficiency
aka ecchinocytes (from greek sea urchin because of shell shape) |
|
|
Term
where might you see acanthocytes in a blood film?
they are thorny cells and may be mistaken for burr cells. |
|
Definition
|
|
Term
| in megaloblastic anemia what type of neutrophils may be a finding? |
|
Definition
|
|
Term
| a pt has had a splenectomy. they are now hyposplenic. what findings might we find in their blood film? |
|
Definition
Howell Jolly bodies
acanthocytes
Target cells
siderotic granules
Pappenheimer bodies |
|
|
Term
| what are sideritic granules and Pappenheimer bodies? |
|
Definition
| To verify that red cell inclusions contain iron, it is necessary to use an iron stain, such as Prussian blue. The iron-containing granules are called siderotic granules. Pappenheimer bodies are siderotic granules that are visible on a Wright-stained smear. |
|
|
Term
| what are Pappenheimer bodies? |
|
Definition
abnormal granules of iron found inside RBCs.
they are inclusion bodies formed by phagosomes that have engulfed xs amounts of iron. |
|
|
Term
| findings on blood film of iron deficiency pt? |
|
Definition
target cells
pencil poikilocytes |
|
|
Term
| causes of normocytic anemia |
|
Definition
chronic disease
CKD
aplastic anemia
hemolytic anemia |
|
|
Term
features of fanconi anemia.
what is the inheritance pattern?
are there any skeletal abnormalities? |
|
Definition
AR inheritance
aplastic anemia
increased risk of AML
neurological problems
cafe au lair spots
short stature due to skeletal abnormalities |
|
|
Term
G6PD deficiency
Gender affected
ethnicity
typical hx
Blood film
diagnostic test |
|
Definition
Gender affected: MALES x link recessive
ethnicity: african and mediterranean descent
typical hx :neonatal jaundice, gallstones, infections/drug precipitate hemolysis
Blood film: Heinz bodies
diagnostic test: G6PD enzyme activity |
|
|
Term
hereditary spherocytosis
Gender affected
ethnicity
typical hx
Blood film
diagnostic test |
|
Definition
Gender affected: Male and Females AD inheritence
ethnicity: Northern European descent
typical hx: neonatal jaundice, gallstones, splenomegaly, chornic symptoms but hemolytic crises can be precipitated by infection with parvo virus.
Blood film: spherocytes (round with lack of central pallor)
diagnostic test: osmotic fragility test |
|
|
Term
| what are the 4 main types of crises recognised in sickle cell disease> |
|
Definition
thrombotic 'painful crises'
sequestration
aplastic
hemolytic |
|
|
Term
| describe characteristics of thrombotic sickle cell crises |
|
Definition
AKA painful /vaso occlusive crises
precipitated by infection, dehydration, deoxygenation
infarcts in various organs including the bones (avascular necrosis of hip), lungs, spleen, brain, hand-foot syndrome in children |
|
|
Term
| characteristics of sequestration sickle cell crisis |
|
Definition
sickling in organs like the spleen or lungs causes pooling of blood. this worsens the anemia.
there may be acute chest syndrome: dyspnae, chest pain, pulmonary infiltrates, low Po2 |
|
|
Term
| infection with which virus in sickle cell disease precipitates aplastic crises? |
|
Definition
parvovirus.
there is a sudden fall in Hb |
|
|
Term
| which lymphoma has reed stern berg cells? |
|
Definition
|
|
Term
| what is the age distribution of HL? |
|
Definition
| bimodal in 3rd and 7th decades |
|
|
Term
| what is the most common subtype of HL? |
|
Definition
nodular sclerosing
associated with lacunar cells and occurs more in women
good prognosis |
|
|
Term
which subset of HL has the best prognosis?
which has the worst ? |
|
Definition
Lymphocyte predominant best prognosis
lymphocyte depleted worst prognosis |
|
|
Term
| in a haematology question if they say abdo pain and neuro signs which 2 DDX should you be thinking? |
|
Definition
acute intermittent porphoria
lead poisoning. |
|
|
Term
| causes of macrocytic megaloblastic anemia |
|
Definition
B12 deficiency
folate deficiency |
|
|
Term
| causes of normoblastic macrocytic anaemia |
|
Definition
alcohol
liver disease
hypothyroid
pregnancy
reticulocytosis
myelodysplasia
drugs: cytotoxics |
|
|
Term
| causes of microcytic anaemia |
|
Definition
iron deficiency
beta thalasemia
congenital sideroblastic anemia
lead poisoning
anemia of chronic disease (more normally normocytic normochromic picture) |
|
|
Term
| what is neutropenic sepsis? |
|
Definition
defined as a pt who is getting chemo with a neutrophil count of
< 0.5 x 10^9 and one of the following
temp 38 or >
signs/symptoms consistent with sepsis. |
|
|
Term
| what prophylaxis should be offered to pts who are likely to have a neutrophil count of < 0.5 x 10^9 |
|
Definition
|
|
Term
| what Abx do NICE recommend starting empirically if you suspect neutropenic sepsis? |
|
Definition
| Tazobactam and pipercillin . |
|
|
Term
| how may anemia be physiological described? |
|
Definition
Low RBC mass
increase plasma volume |
|
|
Term
| what is a low Hb in men and women? |
|
Definition
Men < 135g/L
women < 115 g/L |
|
|
Term
what is the normal MCV range?
what causes microcytic anemia? |
|
Definition
MCV 76-96 femtolitres
causeS:
Fe deficiency
Alpha thalassemia (consider if MCV level is too low for Hb level and rbc is raised)
sideroblastic |
|
|
Term
| causes of normocytic anemia |
|
Definition
acute blood loss
chronic disease
bone marrow failure
CKD
pregnancy |
|
|
Term
|
Definition
B12 and folate deficiency
cirrhosis liver disease
reticulocytosis
cytotoxic (hydroxycarbamide) and anti folate drugs (phenytoin)
marrow infiltration |
|
|
Term
| in hemolytic anemia, what happens to the haptoglobin levels? what are haptoglobins? |
|
Definition
| the levels go down because they bind to free Hb which is released when RBC lyse in haemolytic anaemia. |
|
|
Term
| in hemolytic anemia there may be mild jaundice but not billirubn in the urine. why is this so? |
|
Definition
| because haemolytic anemia causes pre hepatic jaundice. |
|
|
Term
in coeliacs disease, there us poor absorption of iron and folate.
what effect does this have on MCV
what would the RCDW be? |
|
Definition
poor iron absorption = MCV down
poor folate absorption = MCV raised
this will give rise to mixed microcytosis and macrocytosis and the RCDW will be raised.
Anisocytosis = means RBD are of unequal size. |
|
|
Term
| causes of iron deficiency anemia |
|
Definition
menstruation
malnutrition
mal absorbtion
GI bleed
hook worm in tropics |
|
|
Term
| rx for iron deficiency anemia |
|
Definition
Ferrous sulphate 200mg/8h PO
iron should rise by 10g/L a week
cx until Hb is normal and at least for 3 months to replenish iron stores.
SE: abdo pain, nausea, black stools, diarrhoea, constipation. |
|
|
Term
| hepcidin plays a problematic role in which anemia? |
|
Definition
chronic disease.
in inflammation hepcidin levels increase. this causes decrease in serum iron levels as there is iron trapping within macrophages. |
|
|
Term
| when a microcytic anemia is not responding to iron what diagnosis should you think? |
|
Definition
sideroblastic anemia.
due to ineffective erythpoeisiis leading to increased iron absorption and iron loading.
it can be treated with pyrodixine (vitamin B6) or venesection and desferrioxaine (chelating agent) |
|
|
Term
| what am i describing? A rbc with a perinuclear pattern of iron granules? |
|
Definition
|
|
Term
| what rings might be seen in pernicious anemia, lead poisoning and bad infections? |
|
Definition
| cabot rings. thin red-voilet thread like strands in shape of a loop or number 8 |
|
|
Term
|
Definition
it is a monoclonal antibody against inter leukin 5 which is involved in the pathology in eosinophillia
used in adults with severe eosinophilic asthma |
|
|
Term
|
Definition
a cell where the maturation of the nucleus is delayed compared to that of the cytoplasm.
seen in b12 and folate deficiency |
|
|
Term
| why must you always treat folate deficiency with B12 deficiency and never folate deficiency alone? |
|
Definition
because if you have b12 deficiency too but only treat folate then it may precipitate subacute combined degeneration of the cord
triad
extensor plantars
absent knee jerks
absent ankle jerks |
|
|
Term
| what is the acute and maintenance therapy for b12 deficiency? |
|
Definition
acute: 1mg IM alternate days for 2 weeks or until CNS signs improve
maintenance: 1mg IM every 3 months for life.
child dose same as adult dose. |
|
|
Term
| what is the schillings test? |
|
Definition
| used to see if you are absorbing vitamin b12 properly |
|
|
Term
| G6PD deficiency: what specific cells mite i see in the blood film? whats another name for these cells? |
|
Definition
heinz bodies
AKA bite cells |
|
|
Term
acquired haemolytic anemia can be split into anti globulin positive and anti globulin negative.
list some of the causes |
|
Definition
antiglobulin test positive
drug induced penicillin, quinine
AIHA: warm and cold types
paroxysmal cold heamoglobinuria
isoimmune
antiglobulin test negative
AIHA
microangiopathic haemolytic anemia: causes hemolytic uremic syndrome, DIC, pre-E
infection: malaria
paroxysmal nocturnal heamoglobinuria: Marchiafava–Micheli disease, a rare acquired stem cell disorder rx: anticoagulation and Eculizumab |
|
|
Term
paroxysmal cold heamoglobiuria is a form of anti globulin positive haemolytic anemia. what disease is it associated with?
what antibodies are implicated? |
|
Definition
virus/syphylis
Donath–Landsteiner antibodies. They stick to RBCS in the cold, causing self- limiting complement-mediated haemolysis on rewarming |
|
|
Term
| RBC membrane defects include hereditary sphrerocytosis and elliptocytosis. what is their inheritance patterns? |
|
Definition
AD
all are coombs test negative
all need folate
splenectomy may help |
|
|
Term
| what hand art should you avoid if you have G6PD deficiency? |
|
Definition
|
|
Term
| pathophysiology of sickle cell |
|
Definition
AR disorder
abnormal beta chains
Glu for Val at position 6 resulting in HbS rather than HbA |
|
|
Term
| what happens to HbS in deoxygenation? |
|
Definition
| it polymerises and this causes RBC to deform making sickle cells. these are fragile and hemolyse and block small blood vessels. |
|
|
Term
| how to diagnose sickle cell definitively? |
|
Definition
electrophoresis
on blood film you make see sickle cells and target cells. |
|
|
Term
hereditary sphreocytosis
inheritance |
|
Definition
AD
due to the shape the RBC get trapped in spleen causing extravascular hemolysis
signs: splenomegaly and jaundice |
|
|
Term
| if some one has frequent sickle cell crisis what medication might you use? |
|
Definition
| hydrocarbamide. AKA hydroxyurea, a chemotherapy drug that affects rapidly deciding cells so can reduce the no. of crises. |
|
|
Term
B thallasemia
which chromosome is the mutation?
what type of mutation?
which chain does it affect
what is the consequence? |
|
Definition
chromosome 11
point mutation
affecting B chain
resulting in fewer or no B chains. |
|
|
Term
| pathophysiology of thallasemia. |
|
Definition
| there is fewer or none of the affected chain. the unmatched chains precipitate and this damages the RBC membrane causing their hemolysis whilst still in the marrow. |
|
|
Term
B thallasemia minor trait
characteristics |
|
Definition
carrier state
usually asymptomatic
mild anemia that may worsen in pregnancy
often confused with iron deficiency anemia |
|
|
Term
| what are the 3 types of B thallasemia? |
|
Definition
minor trait
intermedia
major (Cooley's) |
|
|
Term
B thalassemia intermia
characteristics |
|
Definition
moderate anemia, doesn't need transfusions
there may be splenomegaly
produces a picture similar to sickle cell anemia |
|
|
Term
| Cooley's anemia (major thalasemia B) |
|
Definition
abnormalities in both beta chains
presents in 1st year with severe anaemia and failure to thrive.
in response to anemia, RBC are made outside the marrow AKA extra medullary hemopoisis. this causes the characteristic head shape e.g skull bossing. |
|
|
Term
what sign would you see in skull X-ray in someone with Cooleys anemia?
MX? |
|
Definition
Hair on end sign due to increased marrow activity
mx: life long blood transfusions are needed resulting in iron over load seen after 10 years. |
|
|
Term
|
Definition
healthy diet, folate
transfusions to keep Hb > 90
iron chelators to prevent iron overload |
|
|
Term
| people with Cooley's anemia can be rx with iron chelators for example Oral deferiprone + desferrioxamine sc twice weekly. what are the SE of this? |
|
Definition
| SE: pain, deafness, cataracts, retinal damage, risk of Yersinia infection. |
|
|
Term
| name 3 metabolic consequences of iron over load? |
|
Definition
hypothyroid
hypocalcemia
hypogonad |
|
|
Term
Alpha thallasemia
which chromosome?
how many genes?
what type of mutation?
what happens if all 4 genes are deleted? (just answered one question lol) |
|
Definition
chromosome 16
there are 4 genes aa/aa
mainly caused by gene deletions
if all 4 genes are missing then it results in death utero called Barts hydrops, gamma chains are the result of this and they are physiologically useless. |
|
|
Term
consequences in alpha thalasemia if 3 genes are deleted?
if 2 genes are deleted?
if 1 gene is deleted? |
|
Definition
HbH occurs
moderate anemia, hepatosplenomegaly
leg ulcers and jaundice
deletion of 2 genes = carrier state
deletion of 1 gene = normal clinical state |
|
|
Term
|
Definition
nutrient required in formation of blood cells in hemopoiesis
the main ones are
iron
B12
Folate |
|
|
Term
| what are reticulocytes? how long are they in the blood before maturing? |
|
Definition
they are immature RBC.
they are in the blood for ~2 days before developing into mature rbc |
|
|
Term
|
Definition
the rate at which RBC sediment in a period of one hour. non specific measure of inflammation.
if the rbc form roleux (stacks) they settle faster due to their increased density. |
|
|
Term
| 3 processes that halt bleeding? |
|
Definition
Vasoconstriction
gap plugging by platelets
coagulation cascade |
|
|
Term
| why are pts with iron overload advised to reduce vitamin c and alcohol intake? |
|
Definition
| they increase iron absorption |
|
|
Term
| mx for sideroblastic anemia |
|
Definition
Treatment is mainly supportive.
Red cell transfusion is given for symptomatic anaemia.
Iron chelation with desferrioxamine should be considered after 20-25 units of red cells have been received.
Avoid alcohol and reduce vitamin C intake, as these increase iron absorption |
|
|
Term
sideroblastic anemia can be inherited or acquired
in those with inherited causes what can be used to rx it? |
|
Definition
| Patients with hereditary sideroblastic anaemia may respond to pyridoxine. |
|
|
Term
| which anemia is characterised by pancytopenia and hypo cellular bone marrow in the absence of abnormal infiltrate and with no increase in reticulin? |
|
Definition
|
|
Term
| which HLA DR is associated with a predisposition to acquired aplastic anemia? |
|
Definition
|
|
Term
| list congenital or inherited causes of aplastic anemia |
|
Definition
Fanconis anemia: AR inheritance
Diamond Black fan syndrome: inherited pure red cell aphasia |
|
|
Term
| list acquired causes of aplastic anemia |
|
Definition
idiopathic
infection: hepatitis
EBV, HIV, parvovirus
toxins: radiations, chemicals (benzene)
drugs: chloramphenicol, gold, penicilamine,
pregnancy
sickle cell |
|
|
Term
| symptoms of aplastic anaemia |
|
Definition
they usually present with symptoms of anemia
pallor, headache, palpitations, dyspneoa, fatigue, or ankle oedema
thrombocytopenia (skin or mucosal haemorrhage, visual disturbance due to retinal haemorrhage, petechial rashes). |
|
|
Term
| what 3 things are needed to define aplastic anemia based on FBC and bone marrow findings? |
|
Definition
Hb <10
Platelets < 50
neutrophils < 1.5 |
|
|
Term
| rx for severe aplastic anemia |
|
Definition
allogenic bone marrow stem cell transplant
immunosupression: antithymocyte or antillymphocyte globulin |
|
|
Term
| name two complications of aplastic anemia |
|
Definition
| Paroxysmal nocturnal haemoglobinuria and myelodysplastic syndrome commonly arise in patients with aplastic anaemia. |
|
|
Term
| myelodysplasctic syndromes (MDS) what is it? |
|
Definition
disease of the bone marrow, dysregulation of cell lineages
affects the old, men and smokers more
can be secondary to radiation or chemotherapy from cancer.
it can lead on to AML |
|
|
Term
which haemophilia is caused by factor 8 deficiency
which one is caused by factor 9 deficiency?
what is the pattern of inheritance? |
|
Definition
factor 8 = hemophilia A
factor 9 - Hemophilia B
x-linked recessive inheritance. |
|
|
Term
| people with haemophilia should avoid what type of injections ? |
|
Definition
IM give sc instead
also avoid NSAIDs due to increased risk of haemorrhage. |
|
|
Term
|
Definition
extrinsic pathway. given as INR
tested by adding thromboplastin |
|
|
Term
|
Definition
intrinsic pathway
tested by adding kaolin |
|
|
Term
| if giving someone with heart failure a blood transfusion what else should be administered every alternate unit? can this be mixed with the blood? |
|
Definition
furosemide every alternate unit. give each unit of blood over 4 hours describe the r
do NOT mix it with the blood |
|
|
Term
| describe the neutropenic regimen when looking after an affected pt |
|
Definition
barrier nursing
hand washing side room
avoid iM injection to avoid danger of infected hematoma
look for infection and take swabs
blood samples
wash perineum after defacation
avoid flowers in vases as they pose a risk for pseudomonas. |
|
|
Term
|
Definition
malignancy of lymphoid B or T cells
maturation is arrested and instead there is proliferation of immature blast cells
genetic and environmental triggers involved as well as down's syndrome
commonest cancer of childhood
rare in adults
CNS involvement is common. |
|
|
Term
| classification of ALL done in 3 ways. list them |
|
Definition
Morphological using FAB system. provides limited information
Immunological: surface markers used to classify into Precursor B-cell, T cell and B-cell
Cytogenic: chromosomal analysis. bad prognosis if there is philadelphia chromosome. |
|
|
Term
| signs and symptoms of ALL |
|
Definition
Marrow: anemia, infection, bleeding
Infiltration: hepato splenomegaly, lymphadonopathy, orchimegaly, CNS involvement |
|
|
Term
|
Definition
blood films show blasts
WCC high
LP for CNS involvement
CXR for mediastinal lymphadenopathy |
|
|
Term
|
Definition
support: allopurinol, fluids
infections: co-trimoxazole for pnemocytis pnemonia
chemotherapy
matched allogenic marrow transplantation |
|
|
Term
|
Definition
70-90%
poor prognosis if
philadelhia chromsome present
BCR-ABL due to translocation of 9 and 22
CNS sign on presentation |
|
|
Term
| In which conditions can enlarged salivary glands be found in? |
|
Definition
ALL
Mumps
HIV
Buliema
Myxoedema
Alcoholic liver disease |
|
|
Term
|
Definition
progresses rapidly
death in 2 months if untreated
commonest acute leukaemia in adults increases with age |
|
|
Term
| what is AML associated with |
|
Definition
can be due to chemotherapy for lymphoma
myelodysplastic states
downs syndrome
radiation exposure |
|
|
Term
| how many histological classification types are there in AML |
|
Definition
5 types
1 AML with recurrent genetic abnormalities.
2 AML multilineage dysplasia (eg 2° to pre-existing myelodysplastic syndrome).
3 AML, therapy related.
4 AML, other.
5 Acute leukaemias of ambiguous lineage (both myeloid and lymphoid phenotype). |
|
|
Term
|
Definition
marrow failure: anemia, infection, DIC
infiltration: hepatosplenomegaly, gum hypertrophy, |
|
|
Term
| which presentation is rare in AML? |
|
Definition
| CNS involvement at presentation is rare in AML |
|
|
Term
|
Definition
bone marrow biopsy
Auer rods are diagnostic of AML |
|
|
Term
|
Definition
infection but AML itself causes fever and
chemo causes increased irate levels so give allopurinol with chemotherapy |
|
|
Term
|
Definition
supportive care: walking can aid fatigue
chemotherapy
bone marrow transplant |
|
|
Term
|
Definition
| they are found in AML and are crystals of coalesced granules. |
|
|
Term
| what can myelodysplastic syndromes transform to? |
|
Definition
acute leukaemia
These are a heterogeneous group of disorders that manifest as marrow failure with risk of life-threatening infection and bleeding. Most are primary disorders, but they may also develop secondary to chemotherapy or radiotherapy. |
|
|
Term
| what feature is common in myeloproliferative disorders? |
|
Definition
|
|
Term
| CML accounts for 15% leukimias. what ages does it most occur in? |
|
Definition
40-60 year olds
slight male predominance
rare in childhood |
|
|
Term
| which chromosome is present in >80% of CML? |
|
Definition
| philadelphia chromosome (t:9-22) |
|
|
Term
| what does the translocation of 9:22 produce? |
|
Definition
a fusion gene BCR-ABL on chromosome 22
it has tyrosine kinase activity |
|
|
Term
| In CML what is the prognosis for those without Philadephia chromosome? |
|
Definition
|
|
Term
|
Definition
weight loss
tiredness
fever
sweats
there may be features of gout due to purine breakdown
bleeding
abdominal discomfort due to splenomegaly |
|
|
Term
|
Definition
splenomegaly >75% often massive
hepatomegaly
anemia
bruising |
|
|
Term
|
Definition
WCC ^ > 100 x 10^9
urate and B12 ^ |
|
|
Term
| what are the 3 phases of CML? |
|
Definition
chronic: lasts months or years with few symptoms
accelerated: increasing symptoms and spleen size
blast transformation: features of acute leukoma +/- death |
|
|
Term
| what drug is used to rx CML? what is its MOA? |
|
Definition
Imatinib
it is a BCR-ABL tyrosine kinase inhibitor.
SE: usually mild: nausea, cramps, oedema, rash, headache, arthralgia. May cause myelosuppression.
there are newer drugs out now too |
|
|
Term
| what is the best hope for CML? |
|
Definition
| stem cell transplantation. from HLA matched sibling. this should be offered 1st line in young patients. in older pts offer imatinib. |
|
|
Term
| what is the hallmark of CLL? |
|
Definition
| build up of mature B cells. they have escaped apoptosis and undergone cell cycle arrest in the G0/G1 phase. |
|
|
Term
| which is the commonest leukemia? |
|
Definition
CLL
>25 % leukaemia cases
male: female ratio 2:1 |
|
|
Term
| what kind of gene altercations increase risk for CLL? are there any infections that can trigger it? |
|
Definition
mutations
trisomies
deletion
Pneumonia may be a triggering event. |
|
|
Term
| what staging is used to work out prognosis in CLL? |
|
Definition
Rai stage 0-4
0 = lymphocytosis
1 = lymphocytosis and lymphadenopathy
2= lymphocytosis and hepatosplenomegaly
3= lymphocytosis and anemia Hb <110
4= lymphocytosis and plates < 100 |
|
|
Term
|
Definition
often none and found on FBC during pre op
If severe there may be weight loss, anorexia , sweats |
|
|
Term
|
Definition
enlarged rubbery non tender nodes
hepatosplenomegaly |
|
|
Term
| what might you find on ix in CLL? |
|
Definition
|
|
Term
|
Definition
AI hemolysis
increased risk to infection due to decreased IgG
marrow failure |
|
|
Term
| what is Richter's syndrome? |
|
Definition
| when CLL transforms into aggressive lymphoma and can be a cause of death. |
|
|
Term
|
Definition
consider drugs if symptomatic
steroids help AI hemolysis
radiotherapy for lymphadenopathy
supportive care
stem cell transplant. |
|
|
Term
|
Definition
1/3 never progress
1/3 progress slowly
1/3 progress actively |
|
|
Term
| what tests are needed to stage HL using the ann arbour staging? |
|
Definition
| CXR CT/PET of thorax, abdo, pelvis +/- marrow biopsy if b symptoms or stage III-IV disease |
|
|
Term
|
Definition
|
|
Term
| in lymphomas what does increased LDH mean? |
|
Definition
| it means increased cell turn over as they release it when they break down. in NHL it is a sign of worse prognosis |
|
|
Term
| what ix are needed to stage NHL? |
|
Definition
| CT/MRI of chest abdo and pelvis |
|
|
Term
| list poor prognostic factors in NHL |
|
Definition
age> 60
systemic symptoms
bulky disease e.g. abdo mass >10cm
increase LDH
disseminated disease |
|
|
Term
|
Definition
| it is a manifestation of cutaneous T cell lymphoma causing severe erythoroderma. |
|
|
Term
| in which type of lymphoma might you see buttock cells? |
|
Definition
|
|
Term
| in which lymphoma do you get characteristic jaw lymphadenopathy in children? |
|
Definition
|
|
Term
| which medicine targets cd20 receptors? |
|
Definition
|
|
Term
| what exam is needed for diagnosis of aplastic anemia? |
|
Definition
|
|
Term
| what is the life span for RBC, platelets and neutrophils? |
|
Definition
rbc 120
platelets ~8 days
neutrophils 1-2 |
|
|
Term
| how much should transfusing 1 U of blood raise the Hb by? |
|
Definition
|
|
Term
| which disease can cause leukoerythroblastic anemia? |
|
Definition
|
|
Term
| what exam is needed for diagnosis of aplastic anemia? |
|
Definition
|
|
Term
| what is the life span for RBC, platelets and neutrophils? |
|
Definition
rbc 120
platelets ~8 days
neutrophils 1-2 |
|
|
Term
| how much should transfusing 1 U of blood raise the Hb by? |
|
Definition
|
|
Term
| which disease can cause leukoerythroblastic anemia? |
|
Definition
|
|
Term
| what are myeloprooliferative disorders and what are the classifications? |
|
Definition
due to a clone of heamotopoietic myeloid stem cells in marrow. while they proliferate they still retain the ability to differentiate into RBC, WBC or platelets.
classification is by the cell type that is proliferating
RBC -polycythemia rubra vera
WCC - CML
platelets - essential throbocytopenia
fibroblasts - myelofibrosis |
|
|
Term
what is relative and absolute polycythemia?
causes of relative polycythemia
how is absolute polycythemia determined? |
|
Definition
relative - decrease plasma volume, normal rbc mass
absolute - increased rbc mass
causes relative: dehydration (alcohol, diuretics), obesity, HTN
absolute polycythemia determined by measuring rbc mass using radioactive chromium. |
|
|
Term
| causes of primary polycythemia |
|
Definition
|
|
Term
| causes of secondary polycythemia? |
|
Definition
hypoxia: high altitude, COPD, cyanotic congenital heart disease
inappropriately increase EPO e.g renal carcinoma, HCC |
|
|
Term
PRV
which age is it common in?
other characteristics |
|
Definition
commoner in >60 year olds
mutation in JAK2 present in >90%
xs proliferation of RBC, WBC platelets causing hyper viscosity and thrombosis |
|
|
Term
signs of PRV
what might you see on examination? |
|
Definition
itching after hot bath
burning sensation in fingers and toes (erythomelalgia)
asymptomatic
headache, tinnitus, dizziness
O/E: facial plethora and splenomegaly in 60% |
|
|
Term
| why might gout occur in prv? |
|
Definition
| increased irate from rbc turnover. |
|
|
Term
|
Definition
raised cell mass on Cr studies and splenomegaly in setting of normal Po2 is diagnostic.
FBC |
|
|
Term
|
Definition
venesection in the young
hydroxycarbamide in the old
alpha interferon in women of child bearing age
low dose aspirin is also given 75mg PO OD |
|
|
Term
|
Definition
thrombosis and haemorrhage main complications
transition to myelofibrosis 30%
5% into acute leukaemia
you need to monitor FBC every 3 months. |
|
|
Term
signs and symptoms of essential thrombocytopenia
rx? |
|
Definition
bleeding or arterial or venous thrombosis
microvascular occlusion- headache, atypical chest pain, light head, erythomelagia
rx: low dose aspirin 75mg
if pt is > 60 years old or has had a previous thrombosis then hydroxycarbamide is given to reduce platelets. |
|
|
Term
| difference between essential thrombocytopenia and myelofibrosis? |
|
Definition
essential thrombocytopenia due to a clonal proliferation of megakaryocytic
myelofibrosis is due to hyperplasia of megakaryocytes |
|
|
Term
| myelofibrosis pathophysiology |
|
Definition
| hyperplasia of magakaryotcytes produced platelet derived growth factor.this leads to marrow fibrosis and myeloid metaplasia. hemopoiesis takes place in spleen and liver resulting in massive hepatosplenomegaly. |
|
|
Term
| presentation of myelofibrosis? |
|
Definition
night sweats
fever
weight loss
abdo discomfort
bone marrow failure : infections, decreased Hb, bleeding |
|
|
Term
characteristic blood film in myelofibrosis?
how to dx the disease?
rx? |
|
Definition
leukoerythroblastic cells (rbc with nucleus)
teardrop rbc
dx: bone marrow trephine
rx: marrow support, allogenic stem cell transplant.
prognosis median 4-5 years. |
|
|
Term
| causes of marrow fibrosis? |
|
Definition
myelofibrosis
other myeloproliferative disorder
TB
lymphoma
secondary carcinoma
leukima
irradiation. |
|
|
Term
| pathophysiology of myeloma |
|
Definition
| there is increased proliferation of the cell in question and it secretes Ig or fragments which cause dysfx of many organs esp the kidney. |
|
|
Term
| classification of myeloma? |
|
Definition
based on Ig
2/3 IgG
1/3 IgA
in 2/3 urine contains Bence Jones proteins. these are free light chains Ig |
|
|
Term
|
Definition
peak age 70 years
african: caucasian 2:1 |
|
|
Term
|
Definition
back pain from osteolytic bone lesions
pathological fractures
hypercalcemia
anemia, neutropenia, thrombocytopenia
kidney failure
recurrent bacterial infections.
do ESR and serum protein electrophoresis in all over 50 who present with back pain. |
|
|
Term
|
Definition
FBC - normocytic anemia, increased ESR persistently
blood film - roleux formation
Urea and Cr ^, Calcium ^ in 40%
imaging: X-rays shows lytic punched out lesions e.g. pepper pot skull, vertebral collapse, fractures or osteoporosis. |
|
|
Term
|
Definition
supportive: bisphosphonate for bone pain, avoid NSAID for renal impairment
local radiotherapy
ortho procedure sin vertebral collapse
correct anemia with transfusion or EPO
renal failure: may need dialysis, fluid 3l to prevent further deterioration
treat infection
Ig infusions may be needed.
chemotherapy that can be followed by
stem cell transplant in younger people |
|
|
Term
|
Definition
worse if > 2 osteolytic lesions
B microglobulin > 5.5mg/L
Hb <11
albumin < 30
cause of death is usually due to infection or renal failure. |
|
|
Term
| myeloma diagnostic criteria |
|
Definition
monoclonal protein band in serum or urine electrophoresis
increased plasma cells in marrow biopsy
end organ damage due to myeloma: hypercalcemia, renal failure, anemia
bone lesions: X-rays and Tc 99 scan. |
|
|
Term
| complications of myeloma and how to rx |
|
Definition
hypercalcemia: fluid resus and IV bisphosphonate
SCC: urgent MRI, dexamethasone and local radiotherapy
hyperviscosity: rx with plasmaphoresis
AKI: rx with rehydration and dialysis may be needed. |
|
|
Term
| 3 pathogmonomic signs of paroxysmal nocturnal heamoglobinuria |
|
Definition
acquired haemolytic anaemia
thrombosis in large vessels
deficient hematopoisies that may result i pancytopenia or aplastic anaemia. |
|
|
Term
| what is the difference between hematuria and hburia? |
|
Definition
| dipstick will show blood for both but microscopy of hburia will show no RBC. |
|
|
Term
| if a pt is deficient in CD55 and CD59 what disease would you suspect? |
|
Definition
| Paroxysmal nocturnal hemaglobinuria |
|
|
Term
how would you see amyloid under polarised light?
what stain would you use? |
|
Definition
Congo red stain
it would look red-green bifringence under polarised light |
|
|
Term
| what 3 characteristic findings would you find in a blood film post splenectomy? |
|
Definition
Target cells
Howell -Jolly bodies
Pappenheimer bodies. |
|
|
Term
|
Definition
by plasma cells that are secreted by B cells
they are glycoproteins
there are 5 different types IgA, M, G, D and E
G can cross placenta
D is attached to the membrane
E is involved in mast cell degranulation
M is the first antibody to attend the scence |
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