Haematology Flashcards
(71 cards)
1
Q
What is vitamin b12 used in ?
A
For red blood cell development and also maintenance of the nervous system.
2
Q
Causes of b12 deficiency
A
- pernicious anaemia = most common cause
- post gastrectomy
- vegan diet or a poor diet
- disorders/surgery of terminal ileum (site of absorption)
- Crohn’s: either diease activity or following ileocaecal resection - metformin (rare)
3
Q
Features of b12 deficiency
A
- macrocytic anaemia
- blood film: hypersegmented neutrophils - sore tongue and mouth
- neurological symptoms
- the dorsal column is usually affected first (joint position, vibration) prior to distal paraesthesia - neuropsychiatric symptoms: e.g. mood disturbances
4
Q
Causes of macrocytic anaemia
A
- vitamin b12 deficiency
- folate deficiency
- Liver disease/alcoholism
- Hypothyroidism
5
Q
Causes of microcytic anaemia
A
- Iron deficiency
2. Thalassemia
6
Q
Causes of normocytic anaemia
A
- Acute blood loss
2. Chronic renal disease
7
Q
Features of macrocytic anaemia
A
- Loss of appetite/weight
- Brittle nails
- Tachycardia
- Diarrhoea
- Fatigue
- Fake skin (lips and eyelids)
- Dyspnoea
- Poor concentration/confusion
- Memory loss
8
Q
Investigations for macrocytic anaemia
A
FBC – check for enlarged RBC and anaemia (MCV(high))
Haematocrit levels = low
Haemoglobin levels
Blood film to identify megaloblastic anaemia
–> hypersegmented polymorphoneucleated cells
LFT
TFT
9
Q
Features of iron deficiency anaemia
A
- Fatigue
- Shortness of breath on exertion
- Palpitations
- Pallor
- Nail changes: this includes koilonychia (spoon-shaped nails)
- Hair loss
- Atrophic glossitis
- Post-cricoid webs
- Angular stomatitis
10
Q
Investigations for iron deficiency anaemia
A
FBC:
- low Hb
- low MCV
- low ferritin
Blood film:
- microcytic hypochromic RBC
- poikilocytosis
- dimorphic RBCs
Endoscopy:
R/O malignancy
11
Q
What is aplastic anaemia?
A
This type of anaemia occurs when your body fails to produce enough new blood cells
12
Q
Features of aplastic anaemia
A
- normochromic, normocytic anaemia
- leukopenia with
thrombocytopenia - features of acute lymphoblastic or myeloid leukaemia
Symptoms:
- fatigue
- SOB
- tachycardia
- pallor
- headache
- fever
- failure to thrive
- jaundice
- murmurs
13
Q
Investigations for aplastic anaemia
A
Blood:
- pancytopenia
- reticulocyte
Bone marrrow biopsy
- fewer cells than normal
14
Q
What is sickle cell anaemia?
A
autosomal recessive condition that results for synthesis of an abnormal haemoglobin chain termed HbS
- more common in afro Caribbean decent
15
Q
When do symptoms develop in sickle cell anaemia?
A
don’t tend to develop until 4-6 months when the abnormal HbSS molecules take over from fetal haemoglobin.
16
Q
Symptoms of sickle cell anaemia
A
- Episodes of pain
- swelling of hands + feet
- frequent infections
- Vision disturbances
- delayed growth/puberty
17
Q
Investigations for sickle cell anaemia
A
Definitive diagnosis = haemoglobin electrophoresis
Blood film: crescent moon
18
Q
What is G6PD deficiency anaemia?
A
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red blood cell enzyme defect.
- more common = Mediterranean and Africa
- inherited in an X-linked recessive fashion.
- Many drugs can precipitate a crisis as well as infections and broad (fava) beans
19
Q
Features of G6PD deficiency anaemia
A
- neonatal jaundice
- intravascular haemolysis
- gallstones are common
- splenomegaly may be present
- Heinz bodies on blood films.
- Bite and blister cells may also be seen
20
Q
Investigations for G6PD deficiency anaemia
A
Diagnosis made using G6PD enzyme assay
21
Q
Drugs causing G6PD deficiency anaemia
A
- anti-malarials: primaquine
- ciprofloxacin
- sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas
22
Q
Define haemolytic anaemia
A
a disorder in which red blood cells are destroyed faster than they can be made.
23
Q
Causes of haemolytic anaemia
A
autoantibodies, medications, and underlying malignancy
hereditiary
24
Q
Signs & Symptoms of haemolytic anaemia
A
Pallor jaundice Fatigue SOB dizziness splenomegaly
25
Investigations for haemolytic anaemia
Bloods:
- low hb
- high MCHC
- increase reticulocyte
Film:
- RBC fragment
- schistocytes
- spherocytes
- reticulocyte
- nucleated RBC
Coombs test= positive
- immune mediated
26
What is idiopathic thrombocytopenic purpura (ITP)?
Immune-mediated reduction in the platelet count.
27
Symptoms for ITP
1. petichae, purpura
2. bleeding (e.g. epistaxis)
3. catastrophic bleeding (e.g. intracranial)
28
Blood findings for ITP
Low platelet
29
Pathogenesis of Thrombotic thrombocytopenic purpura
1. abnormally large and sticky multimers of von Willebrand's factor cause platelets to clump within vessels
2. in TTP there is a deficiency of ADAMTS13 (a metalloprotease enzyme) which breakdowns ('cleaves') large multimers of von Willebrand's factor
(symptoms similar to ITP)
30
What is Von Willebrand's disease?
Most common inherited bleeding disorder
| - VWF responsible for platelets sticking together
31
Features of Von Willebrand's disease
Large bruises or bruising easily
Frequent nose bleeds
Bleeding gums
Longer lasting bleeding from cuts
Heavy periods or heavy bleeding after labour
Long lasting tooth bleeds
32
Investigation for Von Willebrand's disease
1. prolonged bleeding time
2. APTT may be prolonged
3. factor VIII levels may be moderately reduced
4. defective platelet aggregation with ristocetin
33
Define Haemophilia
Haemophilia is an X-linked recessive disorder of coagulation.
Haemophilia A = deficiency of factor VIII
Haemophilia B (Christmas disease) = deficiency of factor IX
34
Signs & symptoms of haemophilia
1. haemoarthroses
2. haematomas
3. prolonged bleeding after surgery or trauma
35
Bloods test for haemophilia
1. prolonged APTT
2. bleeding time, thrombin time, prothrombin time normal
3. Bloods : low Hb + haematocrit
36
What is factor XI disorder?
Haemophilia C
37
Define thrombocytopenia
Deficiency of platelets in the blood
38
Causes of thrombocytopenia
```
Severe:
ITP
DIC
TTP
Haematological malignancy
```
```
Moderate:
heparin induced thrombocytopenia (HIT)
drug-induced (e.g. quinine, diuretics, sulphonamides, aspirin, thiazides)
alcohol
liver disease
viral infection (EBV, HIV, hepatitis)
pregnancy
SLE/antiphospholipid syndrome
vitamin B12 deficiency
```
39
Diagnosis of thrombocytopenia
- History
- Examination
- FBC
- Peripheral smear
Review differential with above
Then bone marrow biopsy
40
What is thalassaemia?
Inherited blood disorder that causes your body to have less haemoglobin than normal
41
Alpha-thalassaemia vs Beta-thalassaemia
Alpha-thalassaemia: deficiency of alpha chains in haemoglobin
Beta-thalassaemia: Absence of beta globulin chains
42
Features of Beta-thalassaemia major
1. presents in the first year of life with failure to thrive and hepatosplenomegaly
2. microcytic (blood film) anaemia
3. HbA2 & HbF raised
4. HbA absent
43
Define acute leukaemia
Uncontrolled proliferation of partially developed white blood cells which build up in the blood
44
Types of acute leukaemia
Acute myloid leukaemia (AML) – affects myeloid cells which fight bacterial infection, defending the body against arasites
Acute lymphoblasitc leukaemia (ALL) – affects lymphocytes which fight viral infections
- children
45
Features of acute lymphoblastic leukaemia (ALL)
1. anaemia: lethargy and pallor
2. neutropaenia: frequent or severe infections
3. thrombocytopenia: easy bruising, petechiae
4. other:
bone pain (secondary to bone marrow infiltration)
splenomegaly
hepatomegaly
fever is present in up to 50% of new cases (representing infection or constitutional symptom)
testicular swelling
46
Investigations for acute lymphoblastic leukaemia (ALL)
Bloods:
- low RBC
- normal WCC
Bone marrow biopsy
47
Define chronic lymphocytic leukaemia (CLL)
Slower growth of white blood cells than acute leukaemia – progresses slowly over many years
48
Features of chronic lymphocytic leukaemia (CLL)
Does not cause any symptoms early on and may only be picked up on a routine blood test
Symptoms can include:
- recurring infections
- anaemia
- bleeding and bruising easily
- high temprature
- nigh sweats
- swollen lymph nodes
- unintentional weight loss
49
Diagnosis of chronic lymphocytic leukaemia (CLL)
Blood test:
- large lymphocyte
- lymphocyte count > 5.0 for > 3 months
Bone marrow biopsy
50
Features of AML
1. anaemia: pallor, lethargy, weakness
2. neutropenia: whilst white cell counts may be very high, functioning neutrophil levels may be low leading to frequent infections etc
3. thrombocytopenia: bleeding
4. splenomegaly
5. bone pain
51
Bloods film for AML
Auer rods (seen with myeloperoxidase stain)
52
Blood findings of AML
DIC
| Thrombocytopenia
53
Investigations for AML
1. Bloods test:
- low RBS
- Normal WCC
- Platelets
2. Bone marrow biopsy
3. Cytogenetic investigations
54
Define CML
CML is a type of cancer that affects the white blood cells and tends to progress slowly over many years.
55
Features of CML
60-70 years:
1. Anaemia: lethargy
2. weight loss and sweating are common
3. splenomegaly may be marked → abdo discomfort
4. an increase in granulocytes at different stages of maturation +/- thrombocytosis
5. decreased leukocyte alkaline phosphatase
6. may undergo blast transformation (AML in 80%, ALL in 20%)
56
Investigation for CML
1. Blood tests – FBC, CRP/ESR, LTFs, U&Es --> changes in the number and pattern of white blood cells. This suggests the diagnosis of CML.
2. A bone marrow biopsy
57
What is lymphoma?
cancer that starts in the lymph glands or other organs of the lymphatic system.
58
Types of lymphoma
1. Hodgkin's lymphoma = is a malignant proliferation of lymphocytes , presence of the Reed-Sternberg cell
2. Non-Hodgkin's lymphoma (every other type of lymphoma that is not Hodgkin's lymphoma)
- Affects B or T- cells
- Further classified as high or low grade
59
Features of Hodgkin's lymphoma
1. lymphadenopathy - painless, non-tender, asymmetrical
2. systemic : weight loss, pruritus, night sweats, fever (Pel-Ebstein)
3. alcohol pain in HL
4. normocytic anaemia, eosinophilia
5. LDH raised
60
Investigation for Hodgkin's lymphoma
1. Biopsy of swollen lymph nodes
- reed-sternberg cells
2. CT, MRI, PET for staging
61
Features of Non- Hodgkin's lymphoma
1. Painless lymphadenopathy (non-tender, rubbery, asymmetrical)
2. Constitutional/B symptoms (fever, weight loss, night sweats, lethargy)
3. Extranodal Disease - gastric (dyspepsia, dysphagia, weight loss, abdominal pain), lungs, skin, central nervous system (nerve palsies)
4. bone marrow (pancytopenia, bone pain)
62
Investigations for Non- Hodgkin's lymphoma
Excisional node biopsy = diagnostic investigation
CT chest, abdomen and pelvis (to assess staging)
63
Define polycythaemia vera
- myeloproliferative disorder caused by clonal proliferation of a marrow stem cell leading to an increase in red cell volume
- accompanied by overproduction of neutrophils and platelets.
64
Features of polycythaemia vera
- hyperviscosity
- pruritus, typically after a hot bath
- splenomegaly
- haemorrhage (secondary to abnormal platelet function)
- plethoric appearance
- HTN
- low ESR
65
Investigation for polycythaemia vera
1. Bloods:
- raised haematocrit
- raised neutrophils
- raised basophils
- raised platelets
2. JAK2 mutation
3. serum ferritin
4. renal and liver function tests
66
Other investigations for polycythaemia vera
- red cell mass
- arterial oxygen saturation
- abdominal USS
- serum erythropoietin level
- bone marrow aspirate and trephine
- cytogenetic analysis
- erythroid burst-forming unit (BFU-E) culture
67
Define Multiple myeloma
Haematological malignancy characterised by plasma cell proliferation.
It arises due to genetic mutations which occur as B-lymphocytes differentiate into mature plasma cells.
68
Features of Multiple myeloma
CRABBI:
1. Calcium
- Hypercalcaemia occurs as a result of increased osteoclast activity within the bones
- This leads to constipation, nausea, anorexia and confusion
2. Renal impairement
- Monoclonal production of immunoglobulins results in light chain deposition within the renal tubules
- This causes renal damage which presents as dehydration and increasing thirst
3. Anaemia
- Bone marrow crowding suppresses erythropoiesis leading to anaemia
- This causes fatigue and pallor
4. Bleeding
- bone marrow crowding also results in thrombocytopenia
- which puts patients at increased risk of bleeding and bruising
5. Bones
- Bone marrow infiltration by plasma cells and cytokine-mediated osteoclast overactivity creates lytic bone lesions
- This may present as pain (especially in the back) and increases the risk of fragility fractures
5. Infection
- a reduction in the production of normal immunoglobulins results in increased susceptibility to infection
69
Investigations for Multiple myeloma
1. Bone marrow aspirate and trephine biopsy
2. Bloods:
- thrombocytopenia
- raised urea & creatinine
- Film: rouleaux formation
3. Serum or urine protein electrophoresis:
- raised concentrations of monoclonal IgA/IgG proteins in serum.
- In the urine = Bence Jones proteins
4. Whole-body MRI = look for bone lesions
70
Define leucopenia
decrease in the number of white blood cells, which puts a person at risk for infection
71
Blood findings for leucopenia
FBC= lowered WCC
