Haem Flashcards
1
Q
Microcytic anaemia
A
MCV < 80
2
Q
Aetiology Microcytic anaemia
A
Defects in haem synthesis
- Iron deficiency
- Anaemia of Chronic disease
Defects in globin synthesis –> Thalassemia
3
Q
Anaemia symptoms
A
o Tiredness o Lethargy o Malaise o Dyspnoea o Pallor o Palpitations o Exacerbation of ischaemic conditions (e.g. angina, intermittent claudication)
4
Q
Anaemia signs
A
Pallor
Brittle hair and nails
Koilonychia (if severe)
Glossitis
Angular Stomatitis
5
Q
Anaemia investigations
A
Bloods
Iron studies
Blood film
CRP and ESR (for ACD)
6
Q
Microcytic anaemia management
A
Oral iron supplements
Sideroblastic anaemia - treat teh cause
Lead poisoning - remove the source and dimercaprol
7
Q
Normocytic anaemia
A
MCV 80-100
8
Q
Aetiology normocytic anaemia
A
Acute blood loss
Failure of RBC production
- Bone marrow failure
- Bone marrow infiltration
- Renal failure - abnormal erythopoeitic drive
- Hypothyroidism
- VIT B2/6 deficiency
Increase in plasma vol
9
Q
Macrocytic anaemia
A
> 100 MCV
10
Q
Aetiology macrocytic anaemia
A
Oftn from abnormal haemopoeisis
Megaloblastic - delay in maturation of nucleus whilt cytoplasm growns
- Vit B12/folate deficiency
- Dec absorption
- ie (pernicious anaemia) - Inc demand
- Dec absorption
Non-megaloblastic
- Alcohol excess
- Multiple myeloma
- Hypothyroidism
- Aplastic anaemia
- Haemolysis
11
Q
Pernicious anaemia
A
AI conditon causing severe lack of IF
12
Q
Perncisious anaemia signs
A
Mild jaundice
Glossitis
Angular stomatitis
Weight loss
13
Q
B12 deficiency signs
A
Peripheral neuropathy
Ataxia
Optic atrophy
Positive Babinski’s
14
Q
Test for pernicious anaemia
A
Schilling Test
B12 absorbed when given with intrinsic factor
15
Q
Management for macrocytic anaemia
A
Pernicious anaemia
- IM hydroxycobalamin
B12 deficiency - dietary supplemants
Folate deficiency
- Folic acid
16
Q
Haemolytic anaemia
A
Premature erythrocute breakdown causing shortened cerythrocyte life span with anaemia
17
Q
Aetiology haemolytic anaemia
A
Hereditary
- Membrane defects (hereditary spherocytosis)
- Metabolic defects (G6PD, Pyruvate kinase defi)
- Haemoglobinopathies (SCA, THala)
Acquired
- Autoimmune
- Drugs (eg. penicillin)
- Trauma –> microangiopathic haemolytic anaemia
- Infection (malaria, sepsis)
18
Q
Haemolytic anaemia Sx
A
Jaundice
Haematuria
Dark urine
Pallor
Hepatosplenomegaly
19
Q
Direct Coomb’s test
A
Autoimmune haemolytic anaemia
Identifies erythrocytes coated with Abs
20
Q
Haemolytic Uraemic Syndrome
A
Traid of:
Microangiopathic haemolytic anaemia
Acute renal failure
Thrombocytopaenia
21
Q
Two forms of Haemolytic Uraemic Syndrome
A
D+ - diarrhoea associated
D- –> no prodromal illness identified
22
Q
HUS vs TTP
A
HUS overlaps with TTP, but TPP has additonal below Sx:
Fever
Fluctuating CNS signs
23
Q
Pathophysiology HUS
A
Toxin = endothelial damage = platelet activation
Release of large vWF and activation of platelets & clotting cascade
Fibrin deposition in small cells = microthrombi & clots.
Blood smashing into clots = haemolysis –> schistocytes
Damaged RBC clog vessels
= Acute renal failure
24
Q
Pathophyisology TTP
A
Defieincy of protease cleaves vWF –> platelet aggregation & fibrin deposition
25
Causes of HUS & TTP
Infection --> E.COLI O157
- Shigella
Drugs
- COCP
- Ciclosporin
26
HUS & TTP Sx
Abdominal colic
Wattery diarrhoea with bloodstains
Oliguria/anuria
Haematuria
Slight jaundice
Generalised oedema
Abdo tenderness
(in TTP;
Weakness
Reduced vision
Fits
Reduced consciousness)
27
Ix HUS/TTP
FBC
U&Es
- High urea and creatinine
- High K+ and low Na+
Clotting
LFTs
Blood film
Stool samples
28
Immune Thrombocytopenic Purpura (ITP)
Syndrome, immune destruction of platelets
Acute seen in children
Chronic in adults
29
Aetiology ITP
Idiopathic
Maybe:
- Infection
- AI
- malignancies
30
Sx ITP
MEME
Mucosal bleeding
Easy bruising
Menorrhagia
Epistaxis
Visible petechiae
31
Aplastic anaemia
Stem cell disorder --> diminished haematopoietic precursors in bone marrow and pancytopaenia
32
AETIOLOGY aplastic anaemia
AI triggered by drugs, viral infeciton or iiradiation
33
Aplastic anaemia Sx
Anaemia signs
| Thrombocytopaenia signs
34
Risk factors for all leukaemias
```
Radiation exposure
Previous chemotherapy
Benzene exposure
Tobacco
FHx
White male
```
35
Skin signs with AML
Leukaemia cutis
Sweet's sydnroome
Pyoderma gangrenosum
Gingival enlargement (gum enlargement)
36
Major cause of CML
Philadelphia chromosome
TRANSLOCATION 9--> 22
BCR-ABL (a tyrosine kinase)
37
Leukaemia - why cant it disseminate quickly>
Exists as leukaemic cells not solid tumour, .>. replaces normal bone marrow cells in circulation quickly.
38
ALL aetiology
Lymphoblasts undergo malignancy
RISK FACTORS:
Radiation
Genetic (Down's, Neurofibromatosis 1, Fanconi's)
HAPPEN IN CHILDREN OFTEN
39
ALL SX
Bone Marrow failure:
Anaemia
Bleeding
Infections
```
Organ infiltration:
Tender bones
Enlarged nodes
Mediastinal compresssion
Meningeal involvement (headache, visual disturbances, nausea)
```
40
AML Risk Factors
Ionising radiation
Cancer therapy
Chemotherapy
MOSt COMMON ACUTE LEAUKAEMIA IN ADULTS
41
AML SX
Bone marrow failure:
ANaemia
Bleeding
Opportunistic infecitons
Tissue infiltration:
GUm swelling/bleeding
CNS involvement
42
AML vs ALL
Differentiate using blood film
Myeloblasts vs Lymphoblasts
Myelobasts have AUER Rods
43
ALL & AML Bone marrow biopsy
>20% blast cells
44
CLL aetiology
Chromosomal changes
Trisomy 12
11q and 13q deletions
45
CLL epi
OLD WHITE MALES
46
CLL investigations
Bloods
Blood film
- Smudge cells
47
CML aetiology
PHILADELPHIA CHROMOSOME
- Transolcation between 9 & 22 (fusion BCR-ABL gene)
Fusion gene enhances tyrosine kinase activity and drives cell replication
48
CML main sign
Splenomegaly
49
Hodgkin's lymphoma risk factors
EBV - main one
| SLE
50
Hodgkin's lymphoma Sx & Signs
Painless enlarging mass
- often in neck
Mediastinal lymph ndoe involvement = bronchial/SVC obstruction
51
Hodgkin's lymphoms Ix
Bloods
*Lymph node biopsy* --> REED-STERNBERG CELLS
52
Staging of lymphomas
Ann-Arbour staging
o I = single lymph node region
o II = 2+ lymph node regions on one side of the diaphragm
o III = lymph node regions on both sides of the diaphragm
o IV = extranodal involvement e.g. liver/bone marrow
o Each stage is either A/B +/- subscript A/E
o A = absence of B symptoms except pruritis
o B = presence of B symptoms – worse prognosis
o E = localised extranodal extension
o S = involvement of spleen
53
Non-Hodgkin Lymhpoma
Any lymphoma without REED-STERNBERG cells
Can be B cell or T cell derived
54
Non-Hodgkin lymphoma Risk factors
EBV/Burkitt's lymphoma
```
o Radiotherapy
o Immunosuppressive agents
o Chemotherapy
o HIV, HBV, HCV
Connective tissue disease (e.g. SLE)
```
55
Entranodal disease in Non-Hodgking's
Skin
Oropharynx
Gut
Small bowel
56
Non-Hodgkin's organ involvement Sx
```
Skin rashes - mycosis fungoides
Headache
Sore throat
Abdo discomrt
testicular swelling
```
57
Multiple myeloma
Proliferation of plasma cells
= bone lesions and production of monoclonal Ig
58
Multiple myeloma Sx
CRAB
Calcium high
Renal impairment
Anaemia
Bone pain & lesions
59
Diagnosis of myeloma
- High suspicion if bone/back pain that is not improving
- Diagnostic criteria:
1. Monoclonal protein band in serum/urine electrophoresis
2. High plasma cells on marrow biopsy
3. Evidence of end-organ damage from myeloma e.g. hypercalcaemia/renal insufficiency/anaemia
4. Bone lesions – x-rays
60
Multiple myeloma blood film
Rouleaux formation (suggests high protein)
61
Multiple myeloma urine electrophoresis
Serum paraprotein
| Bence-Jones proteins
62
Myelodysplasia
Marrow failure characterised by chronic pancytopaenia
63
Myelodysplasia aetiology
```
Maybe primary (intrinsic bone marrow prob)
Chemo/radio therapy
```
64
Myelodysplasia signs and Sx
```
o Anaemia (pallor, cardiac flow murmur)
o Neutropaenia (infections)
o Thrombocytopaenia (purpura or ecchymoses)
o Gum hypertrophy
o Lymphadenopathy
o Spleen NOT enlarged (except in CMML)
```
65
Myelofibrosis
• Disorder of haematopoietic stem cells characterised by progressive bone marrow fibrosis associated with extramedullary haematopoiesis and splenomegaly
66
Myelofibrosis Ix
Bloods
Blood film
- tear drop poikilocyte red cell
Bone marrow aspirate or biopsy
- aspirate often unsuccessful due to fibrosis
67
DIC
Disorder of clotting cascade
Acute form where clots build up and = depletion of platelets and clotting factors
68
Aetiology DIC
Infection - Gram -ve sepsis
Obstetric Complications - missed miscarriage etc
Malignancy
- Acute promyelocytic leukaemia - ACUTE DIC
- Lung, breast & GI malignancy - Chronic DIC
69
HAEMOPHILIA A
Deficiency in Factor 8
70
Haemophilia B
Deficiency in factor 9
71
Haemophilia C
Deficiency in Factor 11
72
Haemophilia Sx
Bleeding into muscles or joints
Haemarthroses
Muscle haematomas
73
Haemophilia Ix
Clotting screen (high APTT)
74
vWf 3 roles
Bring platelets into contact with exposed subendothelium
Make platelets bind to each other
Bind to factor 8, protecting it from destruction in circulation
75
vW disease Sx
```
Easy bruising
Epistaxis
Menorrhagia
Haematochezia
Haematuria
```
76
vW disease Ix
APTT - High
Favtor 8 - low
vWF Ag - Low in Type 1 & 3, normal in2
77
Antiphospholipid syndrome
Presence of antiphospholipid antibodies (APL) in plasma, venous and arteria thromboses
78
APL syndrome Sx
Causes Clots
Coagulation defects
Livedo reticularis - swelling of venules due to clots
Obstetric - recurrent miscarriages
Thromocytopaenia
79
Polycythaemia Sx
Due to hyperviscosity
```
Headaches
Dyspnoea
Tinnitus
Blurred vision
Pruritis after hot bath
Burning sensation in fingers and toes
```
Red ruddy complxion
Conjunctival suffusion
80
Sickle Cell Anaemia
HbSS
81
Sicle Cell train
HbS (one copy)
82
Factors that precipitate sickling
I HAD
Infeciton
Dehydration
Hypoxia
Acidosis
83
Sickle cell disease Sx
Vaso-occlusion/infarction Sx
- Autosplenectomy (splenic atrophy)
- inc risk of encapsulated organism infeciton
- Abdo pain (mesent isch)
- Bones --> dactylitits
- Myalgia & arthralgia
- CNS --> fits & strokes, cognitive defects
84
Sickle cell Sequestration crisis Sx
Occurs due to pooling of red cells in various organs
Liver -> anaemia exacerbation
Lungs --> acute chest
- Breathlessness
- Cough
- Pain
- Fever
Corposa cavernosa
- Painful erection
Impotence
ENlarged spleen
85
Sickle cell disease management acute (painful crises)
```
O2
IV fluids
Strong analgesia
Abs
Cross match
```
Infection prophylaxis - Penicillin
Hydroxyurea/hydroxycarbamide - if frequent crisis
86
Thalassemia
Reduced globin chain synth
87
Alpha thalassemia types
* 4 gene deletion = Haemoglobin Barts Hydrops Fetalis (intrauterine death)
* 3 gene deletion = Haemoglobin H microcytic hypochromic anaemia and splenomegaly
* 2 gene deletion = Alpha 0 thalassemia microcytic hypochromic red cells, NO ANAEMIA
* 1 gene deletion = Alpha+ thalassemia microcytic hypochromic red cells, NO ANAEMIA
88
Beta Thalassemia Types
Major --> little or no beta-chain synth
Intermedia - mild defect due to variety of causes (eg. co-inheritance of beta-thalassemia train with another haemoglobinopathy)
Train --. asymptomatic
89
Thalassemia Sx
Beta thalassemia major
- Severe anaemia
- Presents at 3-6 mnths
- HbF to HbA change
- Pallor
- Malaise
- SoB
Mild jaundice
Hepatosplenomegaly
