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Phase 2a Medicine > Haemotology > Flashcards

Haemotology Flashcards

1
Q

What is anaemia

A

Defined as low haemoglobin concentration, may be due either to a low red cell mass or increased plasma volume.

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2
Q

What are the boundaries for men and women for anaemia

A

Low Hb is <135g/L for men and <115g/L for women.

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3
Q

What are 7 symptoms of anaemia

A

Fatigue
Dyspnoea
Faintness
Palpitations
Headache
Tinnitus
Anorexia

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4
Q

What are 3 signs of anaemia

A

May be absent even in severe anaemia
Pallor
Hyperdynamic circulation e.g. tachycardia, flow murmurs and cardiac enlargement

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5
Q

What are 3 consequences of anaemia

A

Reduced O2 transport
Tissue hypoxia
Compensatory changes

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6
Q

What are 3 compensatory changes as a consequence of anaemia

A

Increase tissue perfusion
Increase O2 transfer to tissues
Increase red cell production

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7
Q

What are 5 pathological consequences of anaemia

A

Myocardial fatty change
Fatty change in liver
Aggravate angina/ claudication
Skin and nail atrophic changes
CNS cell death (cortex and basal ganglia)

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8
Q

What is MCV and its normal range

A

mean corpuscular volume. Normal MCV is 76-96 femtolitres.

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9
Q

What is microcytic anaemia

A

Low MCV anaemia

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10
Q

What are 3 causes of microcytic anaemia

A

Iron-deficiency anaemia – most common cause
Thalassaemia
Sideroblastic anaemia – very rare

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11
Q

What is normocytic anaemia

A

Normal MCV

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12
Q

What is macrocytic anaemia

A

High MCV

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13
Q

What are haemolytic anaemias

A

When erythrocytes are destroyed faster than they are made
anaemia may be normocytic/macrocytic.

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14
Q

What are 8 investigations for anaemia

A

Thorough history and examination
FBC + film
Reticulocyte count
U/E’s, LFTs, TSH
Folate
test for Iron deficiency
test for Chronic disease
test for B12 deficiency

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15
Q

What are 3 tests for iron deficiency

A

Ferritin
Iron studies
Test of causes

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16
Q

What are 3 tests for chronic disease in anaemia

A

Clinical investigation
Laboratory investigation
Renal failure

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17
Q

What are 3 tests for B12 deficiency

A

Intrinsic factor (IF) antibodies
Schilling test
Coeliac antibodies

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18
Q

What is Iron-deficiency anaemia (IDA)

A

microcytic
A reduction in Hb concentration due to inadequate iron supply.

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19
Q

What are 5 causes for IDA

A

Blood loss – haemorrhage/ GI bleeding
Heavy menstrual loss in women (menorrhagia)
Poor diet or poverty in children
Malabsorption – coeliac disease
Hookworm (GI blood loss) is common cause in the tropics

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20
Q

What is the pathology of IDA

A

Iron is an essential constituent of the haem group of Hb, so chronic iron deficiency interrupts the final step in haem synthesis.

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21
Q

What are 2 signs for IDA

A

Tiredness
Often asymptomatic

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22
Q

What are 3 tests for IDA

A

Blood film: microcytic, hypochromic anaemia
Decreased MCV, MCH and MCHC
Low ferritin

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23
Q

What is the treatment plan for IDA

A

Treat cause
Oral iron e.g. ferrous sulfate
Continue for at least 3 months until Hb normalises

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24
Q

What are 3 side effects of oral iron

A

nausea, abdominal discomfort, diarrhoea

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25
Q

What is anaemia of chronic disease

A

microcytic/ normocytic
Reduced Hb related to chronic inflammatory disorders, chronic infections and malignancy

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26
Q

What is the pathology of Anaemia of chronic disease

A

Inflammatory cytokines lead to reduced sensitivity of the marrow to erythropoietin and failure to incorporate iron into developing red cells.

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27
Q

What are the 3 problems which Anaemia of chronic disease arises from

A

Poor use of iron in erythropoiesis
Cytokine-induced shortening of RBC survival
Decreased production of and response to erythropoietin

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28
Q

What are 4 causes of Anaemia of chronic disease

A

Chronic infection, chronic inflammatory disease or malignancy
Vasculitis
Autoimmune disorders - Rheumatoid
Renal failure

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29
Q

What are 2 tests for Anaemia of chronic disease

A

Ferritin normal (or increased in normocytic/microcytic anaemia)
Check blood film – B12, folate, TSH and tests for haemolysis

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30
Q

What is the treatment plan for Anaemia of chronic disease

A

Treat underlying disease
Erythropoietin – helps raise Hb levels
IV iron can overcome functional iron deficiency

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31
Q

Side effects of erythropoietin treatment

A

flu-like symptoms, hypertension, mild rise in platelet count

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32
Q

what is Sideoblastic anaemia

A

A form of anaemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells.

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33
Q

What are the characteristics of sideroblastic anaemia

A

ineffective erythropoiesis, leading to increased iron absorption and iron loading in marrow – the body has enough iron, but cannot incorporate it into Hb.

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34
Q

What are 4 causes of Sideroblastic anaemia

A

Congenital – rare X-linked
Chemotherapy
Anti-TB drugs
Alcohol excess

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35
Q

What are 3 tests for sideroblastic anaemia

A

Increased ferritin
Hypochromic blood film
Disease-defining sideroblasts in the marrow

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36
Q

What are the 3 treatment steps for sideroblastic anaemia

A

Remove the cause
Pyridoxine
Repeated transfusions for severe anaemia

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37
Q

What is macrocytic anaemia

A

Unusually large blood cells – low haemoglobin.

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38
Q

What are the 3 categories of causes of macrocytic anaemia

A

Megaloblastic
Non-megaloblastic
Other haematological

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39
Q

What is a megaloblastic cause of macrocytic anaemia

A

a megaloblast is a cell in which nuclear maturation is delayed compared with the cytoplasm. This occurs with B12 and folate deficiency: both are required for DNA synthesis.

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40
Q

What are 4 non-megaloblastic causes for macrocytic anaemia

A

alcohol excess, reticulocytosis, liver disease, hypothyroidism.

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41
Q

What are 4 other haematological causes of macrocytic anaemia

A

myelodysplasia, myeloma, myeloproliferative disorders, aplastic anaemia

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42
Q

What are 3 tests for macrocytic anaemia

A

Test serum folate and B12
Blood film shows hypersegmental neutrophils for B12 deficiency
Bone Marrow results in similar appearance for both.

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43
Q

What are the 4 likely outcomes of a bone marrow biopsy in macrocytic anaemia

A
  1. Megaloblastic marrow
  2. Normoblastic marrow
  3. Abnormal erythropoiesis
  4. Increased erythropoiesis
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44
Q

What is a consequence of maternal folate deficiency

A

Maternal folate deficiency causes foetal neural tube defects.

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45
Q

Where is folate found

A

green vegetables, nuts, yeast, and liver; it is synthesised by gut bacteria

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46
Q

What are 5 causes of folate deficiency

A

Poor diet e.g. poverty, alcoholics, elderly
Increased demand e.g. pregnancy or increased cell turnover
Malabsorption e.g. coeliac disease
Alcohol
Drugs: anti-epileptics, methotrexate

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47
Q

What are 2 tests for folate deficiency

A

Blood film – anisocytosis and poikilocytosis with large oval macrocytes
Serum and red cell folate assay

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48
Q

What is the treatment for folate deficiency

A

Assess for underlying cause e.g. poor diet, malabsorption
Treat with folic acid 5mg/day PO for 4 months
Pregnancy: prophylactic doses of 400mcg/day are given until 12 weeks
Helps prevent spina bifida

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49
Q

What is pernicious anaemia

A

An autoimmune condition in which atrophic gastritis leads to a lack of IF secretion from the parietal cells of the stomach. Dietary B12 therefore remains unbound and consequently cannot be absorbed by the terminal ileum.

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50
Q

What are 3 causes of B12 deficiency

A

Dietary
Malabsorption during digestion
Congenital metabolic errors

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51
Q

What is the pathology of pernicious anaemia

A

Autoimmune gastritis affecting the fundus. Parietal and chief cells are replaced with mucin-secreting cells, leading to no intrinsic factor secretion. IF is required for B12 absorption = B12 deficiency. B12 and folate are needed for DNA synthesis so red cell development is arrested and they remain as large immature cells (megaloblastic). These may develop into abnormally large red cells – macrocytes.

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52
Q

What are 4 differential diagnoses for pernicious anaemia

A

Thyroid disease
Vitiligo
Addison’s disease
Hypoparathyroidism

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53
Q

What are 3 clinical presentations of pernicious anaemia

A

Symptoms of anaemia
Mild jaundice due to haemolysis
B12 deficiency causes

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54
Q

What are symptoms of b12 deficiency

A

Neurological – paraesthesia, peripheral neuropathy, subacute combined degeneration of spinal cord
Irritability, depression, psychosis and dementia

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55
Q

What are the tests for pernicious anaemia

A

FBC: Decreased Hb
Increased MCV
WCC and platelets low if severe
Reticulocytes may be low as production impaired
Megaloblasts in the marrow
Parietal cell antibodies
IF antibodies

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56
Q

What is the treatment for pernicious anaemia

A

Treat cause
Malabsorption – hydroxocobalamin to replenish B12 stores
Dietary – oral B12

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57
Q

What is haemolytic anaemia

A

Anaemia due to haemolysis, the abnormal breakdown of red blood cells.

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58
Q

What are the 4 types of immune mediated causes of haemolytic anaemia (+ve direct antiglobulin test)

A

Drug-induced: causing formation of RBC autoantibodies from binding to RBC membranes or production of immune complexes.
Autoimmune haemolytic anaemia: mediated by autoantibodies causing mainly extravascular haemolysis and spherocytosis.
Paroxysmal cold haemoglobinuria: seen with viruses/syphilis
Isoimmune: acute transfusion reaction

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59
Q

What are 4 causes for direct antiglobulin -ve haemolytic anaemia

A

Autoimmune hepatitis; hepatitis B and C; post flu and other vaccinations, drugs

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60
Q

What is the pathophysiology of microangiopathic haemolytic anaemia

A

Mechanical disruption of RBCs in circulation, causing intravascular haemolysis and schistocytes

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61
Q

What are 2 causes for Microangiopathic haemolytic anaemia

A

haemolytic-uraemic syndrome, eclampsia.

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62
Q

How does malaria cause haemolytic anaemia

A

RBC lysis and blackwater fever (haemoglobinuria)

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63
Q

What are 2 types of hereditary enzyme defects causing haemolytic anaemia

A

G6PD deficiency – chief RBC enzyme defect.
Pyruvate kinase deficiency – decreased ATP production causes decreased RBC survival

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64
Q

What are 2 types of membrane defects causing haemolytic anaemia

A

Hereditary spherocytosis
Hereditary elliptocytosis

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65
Q

What are 2 hereditary haemoglobinopathies causing anaemia

A

Sickle-cell disease and thalassaemia

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66
Q

What is Aplastic anaemia

A

Anaemia due to bone marrow failure – defined as pancytopenia with hypoplastic marrow (bone marrow stops making cells).

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67
Q

What is pancytopenia

A

reduced numbers of all major cell lines (red, white and platelets)

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68
Q

What are 5 causes of aplastic anaemia

A

Autoimmune
Drugs
Viruses – parvovirus, hepatitis
Irradiation
Inherited – Fanconi anaemia

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69
Q

What is the pathophysiology of aplastic anaemia

A

A reduction in pluripotent stem cells together with a fault in those remaining, or an immune reaction against them so that they are unable to repopulate the bone marrow.

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70
Q

What are 3 clinical presentations for aplastic anaemia

A

Symptoms and signs of anaemia
Bruising with minimal trauma
Blood blisters in mouth

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71
Q

What are the results of bone marrow examination for aplastic anaemia

A

Pancytopenia
Virtual absence of reticulocytes
Hypocellular aplastic bone marrow with increased fatty spaces

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72
Q

What is the treatment for aplastic anaemia

A

Support the blood count
Bone marrow transplant
Immunosuppression can be helpful but no curative

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73
Q

What is polycythaemia vera

A

A condition marked by an abnormal increase in the number of circulating red blood cells.

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74
Q

What is the pathology of polycythaemia vera

A

Caused by clonal proliferation of haematopoietic myeloid stem cells in the bone marrow. These cells retain the ability to differentiate into RBCs, causing an excess of RBCs.
Somatic mutation in a single haematopoietic stem cell.

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75
Q

What are 7 clinical manifestations of polyccythaemia vera

A

Vague symptoms due to hyper viscosity;
Headaches
Dizziness
Tinnitus
Visual disturbance
Characteristic;
Itching after a hot bath
Erythromelalgia
Burning sensation in fingers and toes

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76
Q

What are 4 signs of polycythaemia vera

A

Facial plethora
Splenomegaly
Gout may occur due to increased urate from RBC turnover
Features of thrombosis

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77
Q

What are 3 differential diagnoses for polycythaemia vera

A

Chronic myeloid leukaemia (CML)
Essential thrombocytosis
Primary myelofibrosis

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78
Q

What are the results of a FBC for polycythaemia vera

A

increased RCC, increased Hb, increased PCV, increased WBC and platelets, increased HCT

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79
Q

What is the management of polycythaemia vera

A

Aim to keep HCT (haematocrit) <0.45 to decrease risk of thrombosis.
Younger patients with low risk – venesection
>60 years high risk – hydroxycarbamide is used.
Low dose aspirin

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80
Q

What is the main complication of polycythaemia vera

A

can progress to acute myeloid leukaemia.

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81
Q

What are haemoglobinopathies

A

Genetic diseases of haemoglobin. Categorised by thalassaemia syndromes and structural haemoglobin variants.

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82
Q

What is the pathology of sickle cell anaemia

A

Sickle cell anaemia is an inherited autosomal recessive disorder in which the production of abnormal haemoglobin results in vaso-occlusive crises.
It arises from an amino acid substitution in the gene coding for the beta haemoglobin chain which leads to the production of HbS rather than HbA.
HbS is 50 times less soluble than HbA
Under conditions of low oxygen tension, HbS polymerises into rod-like aggregates which cause the red cell to adopt a sickle shape

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83
Q

What are the genetics underlying sickle cell anaemia

A

HbS is caused by a point mutation in the β-globin gene on chromosome 11, which causes a replacement of valine for glutamic acid in the sixth position of the β-chain.
Homozygotes (SS) – sickle cell anaemia
Heterozygotes (AS) – sickle cell trait (protection against falciparum malaria)

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84
Q

What are 6 presentations of sickle cell anaemia

A

Asymptomatic
Asthenia (abnormal weakness/ lack of energy)
Jaundice
Ulcers around the ankles
Bone deformities
Infections – more vulnerable

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85
Q

What is painful vaso-occlusive crisis in sickle cell anaemia

A

Due to microvascular occlusion
Can affect the ribs, spine, pelvis, tummy, legs and arms and hands/feet (particularly in children).
Affects the marrow, causing severe pain, triggered by cold, dehydration, infection or hypoxia.

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86
Q

What are 3 acute complications of SC anaemia

A

Painful crisis
Sickle chest syndrome
Stroke

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87
Q

What are 3 chronic complications of SC anaemia

A

Renal impairment
Pulmonary hypertension
Joint damage

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88
Q

What are the investigations for SC anaemia

A

Neonatal screening
Hb electrophoresis – one major single HbS band and no normal HbA.
Blood test - Increased reticulocytes, increased bilirubin.
Film – sickle cells and target cells.
Sickle solubility test - +ve (could be HbAS/HbSS)

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89
Q

What is the management for SC anaemia

A

Disease modifying treatment
Transfusion
Hydroxycarbamide
Stem cell transplant
Prophylaxis in cases of hyposplenism and immunocompromise.

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90
Q

What is thalassaemia

A

A group of inherited red cell disorders caused by the underproduction of α- or β-globin chains.

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91
Q

What is the pathology of thalassaemia

A

Underproduction of either α- or β-globin chains causes accumulation or excess unpaired chains.
This leads to the destruction of developing red cells and premature removal of circulating red cells in the spleen
The anaemia in thalassaemia is therefore a combination of ineffective erythropoiesis and haemolysis in the spleen

92
Q

What are the 2 catagories of thalassaemia

A

alpha (gene deletions) and beta (point mutations)

93
Q

What is beta thalassaemia

A

Caused by point mutations in β-globin genes on chromosome 11, leading to decreased β chain production, or its absence.

94
Q

What are the 3 types of beta thalassaemia

A

β thalassaemia minor
A carrier state that is usually asymptomatic.

β thalassaemia intermedia
Intermediate state with moderate anaemia, not requiring regular transfusions. May have splenomegaly.

β thalassaemia major

95
Q

What is thalassaemia major

A

Significant abnormalities in both β-globin genes, presenting with severe anaemia and failure to thrive (<1yr). Inadequate production of haemoglobin causes the severe anaemia, and children who are affected will require lifelong transfusions if they develop to adulthood

96
Q

What are 5 presentations for beta thalassaemia

A

Failure to feed
Listless (lacking energy)
Crying
Pale
Extra-medullary haematopoiesis causes the characteristic head shape (skull bossing) and hepatosplenomegaly.

97
Q

What are 3 investigations for beta thalassaemia

A

FBC – 40-70g/L Hb, MCV and MCH very low
Film – large and small very pale red cells, nucleated RBCs
Hb electrophoresis

98
Q

What are the treatment options for beta thalassaemia

A

Regular transfusions
Iron chelation (removal of excess iron)
Endocrine supplementation
A histocompatible marrow transplant can offer chance of cure.

99
Q

What are the monitoring options for beta thalassaemia

A

Ferritin
Cardiac and liver MRI
Endocrine testing – gonadal function, diabetes screening, growth and puberty

100
Q

What is the pathology of iron overload in thalassaemia major

A

Thalassaemia major requires lifelong blood transfusions to grow and develop. This consequently increases the body iron load – there is no means for the body to eliminate the excessive iron.
Excess iron is deposited mainly in the liver and spleen – leading to liver fibrosis and cirrhosis
Deposited in endocrine glands and heart – diabetes, heart failure and premature death.

101
Q

What is the genetics behind alpha thalassaemia

A

There are two separate α-globin genes on each chromosome 16 – four genes termed αα/αα.
If all 4 genes are deleted, death is in utero – Bart’s hydrops.
If 3 genes are deleted (–/-α), HbH disease occurs – moderate anaemia and features of haemolysis – hepatosplenomegaly, leg ulcers, jaundice.
If 2 genes are deleted (–/αα) – asymptomatic carrier state – decreased MCV
If one gene is deleted – normal clinical state.

102
Q

What are membranopathies

A

Autosomal dominant conditions which result in an abnormally shaped red cell.
Deficiency of red cell membrane proteins caused by a variety of genetic lesions

103
Q

What are 3 features of hereditary spherocytosis

A

Autosomal dominant
Shortage of red blood cells
Less deformable spherical RBCs, so trapped in spleen -> extravascular haemolysis.

104
Q

What are 2 signs of spherocytosis

A

Splenomegaly
Jaundice

105
Q

What are 2 tests for spherocytosis

A

fbc- Mild if Hb >110g/L and reticulocytes <6%.
Increased bilirubin

106
Q

What are 4 features of hereditary elliptocytosis

A

Autosomal dominant
Abnormally large number of the erythrocytes are elliptical.
Mostly asymptomatic (small protection from malaria)
10% display a most severe phenotype

107
Q

What 3 features of G6PD deficiency

A

X-linked recessive
Most are asymptomatic
Lack of enzyme that maintains protective protein against oxidant injury.

108
Q

What are the oxidative crises associated with G6PD deficiency

A

May get oxidative crises due to decreased glutathione production.
In attacks – rapid anaemia and jaundice.
Precipitants – drugs, exposure to broad beans, illness, henna
Drugs = primaquine, sulphonamides, quinolones, dapsone, nitrofurantoin

109
Q

What are 2 tests for G6PD deficiency

A

Enzyme assay
Film – bite and blister cells

110
Q

What is the treatment of G6PD deficiency

A

Transfuse if severe

111
Q

What is Pyruvate kinase deficiency

A

Autosomal recessive
Decreased ATP production causes decreased RBC survival

112
Q

What are 3 Clinical features of Pyruvate kinase deficiency

A

Variable chronic haemolysis
Homozygotes have neonatal jaundice, later in life haemolysis and splenomegaly
Prone to aplastic crisis in Parvovirus B19 infection.

113
Q

What is the test for pyruvate kinase deficiency

A

enzyme assay

114
Q

What is the treatment for pyruvate deficiency

A

Often not needed – splenectomy may help.
Transfuse during severe crisis

115
Q

What is the physiology of platelets

A

Produced in bone marrow
Megakaryocyte fragments
Regulated by thrombopoietin – produced in the liver

116
Q

What is the physiology associated with low platelets

A

Low platelets = reduced bound TPO = increased free TPO = increased megakaryocyte stimulation = increased platelets.

117
Q

What are the 5 steps to Platelet activation and role in primary haemostasis

A

Following damage to endothelium:
Platelets adhere to vascular endothelium via collagen & vWF (von Willebrand factor)
Binding of platelets to collagen stimulates cytoskeleton shape change within the platelets, and they spread out
This increases their surface area and results in their activation, leading to the release of platelet granule contents including ADP, fibrinogen, thrombin and calcium. These components facilitate the clotting cascade ending with the production of fibrin
Aggregation of platelets then occurs, which involves the cross-linking of activated platelets by fibrin
Activated platelets also provide a negatively charged phospholipid surface, which allows coagulation factors to bind and enhance the clotting cascade

118
Q

What are 4 Clinical manifestations of platelet dysfunction

A

Mucosal bleeding
Easy bruising
Petechiae, purpura (red/purple discoloured skin)
Traumatic haematomas

119
Q

What are the 5 causes of low platelets related to Decreased marrow production

A

Aplastic anaemia
Megaloblastic anaemia
Marrow infiltration (leukaemia, metastatic malignancy, lymphoma, myeloma)
Marrow suppression
Marrow replacement

120
Q

What are the 2 causes of low platelets related to excess destruction

A

Immune thrombocytopenia
Thrombotic thrombocytopenia

121
Q

What is Immune thrombocytopenia

A

IgG antibodies form a platelet and megakaryocyte surface glycoproteins
Opsonised platelets are removed by reticuloendothelial system
Primary – may follow viral infection/ immunisation especially in children
Secondary – occurs in association with malignancies and infections

122
Q

What is Thrombotic thrombocytopenia

A

Widespread adhesion and aggregation of platelets -> microvascular thrombosis -> profound thrombocytopenia

123
Q

What are 2 causes for impaired platelets

A

Congenital – Von Willebrand disease
Acquired – uraemia, drugs

124
Q

What is myelodysplasia

A

Dysfunctional production of platelets in bone marrow

125
Q

What are 2 Diagnostic features of Myelodysplasia

A

abnormal size of platelets; absence of platelet alpha granules

126
Q
A
127
Q

What are 3 investigations for myelodysplasia

A

FBC – isolated thrombocytopenia
Raised lactate dehydrogenase levels (from ischaemic or necrotic cells)
Physical examination – signs of bleeding or splenomegaly

128
Q
A
129
Q

What are 6 factors for abnormal thrombosis

A

Smoking
Hypertension
Diabetes
Hyperlipidaemia
Obesity/ sedentary lifestyle
Stress/ type A personality

130
Q

What is Heparin

A

Glycosaminoglycan
Binds to antithrombin and increases its activity (indirect thrombin inhibitor)
Given by continuous infusion

131
Q

What is LMW heparin

A

Once daily, weight-adjusted dose given subcutaneously
Used for treatment and prophylaxis of thrombosis

132
Q

What is Aspirin

A

Inhibits cyclo-oxygenase irreversibly
Inhibits thromboxane formation and hence platelet aggregation

133
Q

What is warfarin

A

Prevents synthesis of active factors II, VII, IX and X
Antagonist of vitamin K
Prolongs prothrombin time

134
Q

What are DOACs

A

Direct oral anticoagulant drugs
Directly acting on factor II and X
No blood test or monitoring
Used for extending thromboprophylaxis
Not used in pregnancy

135
Q

What is DVT

A

Deep vein thrombosis
a blood clot that develops within a deep vein in the body, usually in the leg.

136
Q

What is thromboembolism

A

is the obstruction of a blood vessel by a blood clot that has become dislodged from another site in the circulation.

137
Q

What are 3 circumstantial causes of DVT and thromboembolism

A

Surgery
Immobilisation
Long haul flights

138
Q

What are 2 genetic causes for DVT and thromboembolism

A

Factor V Leiden
Antithrombin deficiency

139
Q

What are 2 acquired causes for DVT and
Thromboembolism

A

Anti-phospholipid syndrome
Lupus anticoagulant

140
Q

What is the pathology of DVT

A

Sluggish blood flow and/or increased blood coagulability overcomes natural anticoagulant activity and causes thrombus to form in the deep leg veins
The thrombus may enlarge in size as it propagates along the lumen of the vein

141
Q

What are the risk factors for DVT

A

Surgery, immobility, leg fracture, POP
OC pill, HRT, pregnancy
Long haul flights
Inherited thrombophilia – genetic predisposition towards Caucasian

142
Q

What are the risk factors for PE

A

Surgery, immobility, leg fracture, POP
OC pill, HRT, pregnancy
Long haul flights
Inherited thrombophilia – genetic predisposition towards Caucasian

143
Q

What are the prevention options for DVT and PE

A

Hydration and early mobilisation
Compression stockings
Foot pumps

LMW heparin

144
Q

What are the clinical manifestations for DVT

A

Symptoms and signs are non-specific, clinical diagnosis unreliable
Symptoms;
Pain
Swelling
Signs;
Tenderness
Swelling
Warmth
Decolourisation

145
Q

What are 3 investigations for DVT

A

D-dimer: normal excludes diagnosis
Positive does not confirm diagnosis – surgery/ pregnancy/infection can provide positive D-dimer (not useful for inpatients)
Ultrasound compression test proximal veins
Venogram for calf, recurrence uncertain

146
Q

What are 5 management options for DVT

A

Oral warfarin
LMWH (low molecular weight heparin)
DOAC (direct oral anticoagulant)
Compression stockings
Treat underlying cause – malignancy, thrombophilia

147
Q

What is PE

A

Pulmonary embolism
A blockage in one of the pulmonary arteries in your lungs, often caused by blood clots that travel to the lungs from the legs (DVTs).

148
Q

What is the pathology of a PE

A

A large PE is haemodynamically significant as it will block inflow of blood to lungs, so they can’t oxygenate the blood. It can lead to hypotension, cyanosis, severe dyspnoea and right heart strain/failure.

149
Q

What are 3 symptoms of PE

A

Breathlessness
Pleuritic chest pain
Cyanosis

150
Q

What are 4 signs of PE

A

Tachycardia
Tachypnoea
Pleural
No signs of alternative diagnosis

151
Q

What are 5 investigations for PE

A

CXR usually normal
ECG – sinus tachycardia
Blood gases: type 1 respiratory failure, decreased O2 and CO2
D-dimer: normal excludes diagnosis
Ventilation/perfusion scan: mismatch defects

152
Q

What are 4 management options for PE

A

LMW heparin
DOAC
Treat the cause
If cannot anti-coagulate, consider IVC filter (inferior vena cava)

153
Q

What are 2 congenital vascular defects

A

Osler-Weber-Rendu syndrome, connective tissue disease

154
Q

What are 4 acquired vascular defects

A

senile purpura, infection, steroids, scurvy

155
Q

What are 2 congenital coagulation disorders

A

haemophilia, von Willebrand’s disease

156
Q

What are 3 acquired coagulation disorders

A

anticoagulants, liver disease, vitamin K deficiency

157
Q

What is Von Willebrand Disease

A

An inherited bleeding tendency caused by a quantitative or qualitative deficiency of vWF.

158
Q

What is the pathology of Von Willebrand Disease

A

vWF acts as an adhesion molecule which allows platelets to bind to subendothelial tissues and it also acts as a carrier for factor VIII
Lack of vWF activity leads to a bleeding tendency due to a combination of failure of platelet adhesion and factor VIII deficiency

159
Q

what are 3 presentations for von willebrand disease

A

Mucosal bleeding, particularly nosebleeds, and bleeding after injury or surgery are the main manifestations

160
Q

What is haemophilia

A

An inherited disorder of haemostasis characterised by bleeding tendency due to a deficiency of either factor VIII (haemophilia A) or factor IX (haemophilia B).

161
Q

What are the genetics behind haemophilia

A

The factor VIII and factor IX genes are both located on the X chromosome, so haemophilia demonstrates sex-linked inheritance, with males being predominantly affected.
Both disorders are X-linked recessive.

162
Q

What is the pathology of haemophilia

A

Factors VIII and IX together form the factor VIII-factor IX complex which activates factor X in the clotting cascade
Lack of these factors impairs clotting

163
Q

What is Haemophilia A

A

Factor VIII deficiency; inherited an x-linked recessive pattern

164
Q

What is the presentation of haemophilia A

A

Depends on severity, often early in life or after surgery/trauma
Bleeds into joints leading to crippling arthropathy
Bleeding into joints causing haematomas

165
Q

What is used to diagnose haemophilia A

A

Increased APTT and decreased factor VIII assay

166
Q

What is APTT

A

activated partial thromboplastin time,
measures the length of time that it takes for clotting to occur when specific reagents are added to plasma

167
Q

What are 3 management points for haemophilia A

A

Avoid NSAIDs and IM injections
Minor bleeding – pressure and elevation of the part
Desmopressin raises factor VIII levels

168
Q

What is haemophilia B

A

Factor IX deficiency, behaves clinically like haemophilia A.
Treat with recombinant factor IX.

169
Q

What is acquired haemophilia

A

a bleeding diathesis causing big mucosal bleeds caused by suddenly appearing autoantibodies that interfere with factor VIII.

170
Q

What affect does liver disease have on bleeding

A

produces a complicated bleeding disorder with decreased synthesis of clotting factors, decreased absorption of vitamin K, abnormalities of platelet function.

171
Q

What is leukaemia

A

Malignant proliferation of haemopoietic cells.

172
Q

What is Acute lymphoblastic leukaemia (ALL)

A

A malignancy of lymphoid cells, affecting B/T lymphocyte cell linages, arresting maturation and promoting uncontrolled proliferation of immature blast cells, with marrow failure and tissue infiltration.

173
Q

What are 7 signs and symptoms of ALL

A

Marrow failure: anaemia
Fatigue
Shortness of breath
Infection
Tonsillitis
Fevers/ rigors
Bleeding – thrombocytopenia
Hepato/splenomegaly, lymphadenopathy

174
Q

What are 3 tests for ALL

A

Characteristic blast cells on blood film and bone marrow. WCC usually high
CXR and CT scan to look for mediastinal and abdominal lymphadenopathy
Lumbar puncture should be performed to look for CNS involvement

175
Q

What is the treatment for ALL

A

Educate and motivate patient to promote engagement with therapy.
Support
Blood/platelet transfusion
IV fluids
Hickman line for IV access
Infections – immediate IV antibiotics and give prophylactic antivirals, antifungals and antibiotics
Chemotherapy

176
Q

What is Acute myeloid leukaemia (AML)

A

Neoplastic proliferation of blast cells derived from marrow myeloid elements.

177
Q

What are 9 signs and symptoms of AML

A

Marrow failure
Anaemia
Infection
Bleeding
Infiltration
Hepatosplenomegaly
Splenomegaly
Gum hypertrophy
Skin involvement

178
Q

What are 3 tests for AML

A

WCC is often increased
Bone marrow biopsy – AML differentiated from ALL by Auer rods.
Immunophenotyping

179
Q

What are 2 complications of AML

A

Predisposition to infection by both the disease and the treatment; may be bacterial, fungal or viral – prophylaxis is given for each during therapy.
Chemotherapy causes increased plasma urate levels

180
Q

What is the treatment for AML

A

Chemotherapy
Daunorubicin and cytarabine
Supportive measures
Blood/platelet transfusion
IV fluids
Hickman line for IV access
Walking exercises can relieve fatigue
Bone marrow transplant
Pluripotent haematopoietic stem cells

181
Q

What is Chronic myeloid leukaemia (CML)

A

Characterised by an uncontrolled clonal proliferation of myeloid (blood-forming tissue in the bone marrow) cells.

182
Q

What is a philidelphia chromosome

A

A hybrid chromosome comprising reciprocal translocation between the long arms of chromosome 9 and the long arm of chromosome 22 – t(9;22).

183
Q

What are 7 symptoms of CML

A

Weight loss
Tiredness
Fever
Sweats
May be features of gout
Bleeding
Abdominal discomfort

184
Q

What are 4 CML signs

A

Splenomegaly
Hepatomegaly
Anaemia
Bruising

185
Q

What are 5 tests for CML

A

WBC – increased neutrophils, monocytes, basophils, eosinophils
Film: left shift + basophilia
Philadelphia chromosome
Cytogenetic analysis of blood or bone marrow for Ph
Increased urate

186
Q

What is the treatment for CML

A

Target molecular therapy – tyrosine kinase inhibitors: Imatinib
Hydroxycarbamide

187
Q

What are 4 side effects of imatinib

A

nausea, cramps, oedema, rash, headache

188
Q

What is Chronic lymphocytic leukaemia (CLL)

A

The most common leukaemia. The hallmark is a progressive accumulation of a malignant clone of functionally incompetent beta cells. Mutations, trisomies and deletions influence risk.

189
Q

What are 6 symptoms of CLL

A

Often none – surprise finding on routine FBC
Anaemic
Infection-prone
Weight loss
Sweats
Anorexia (if severe)

190
Q

What are 3 signs of CLL

A

Enlarged, rubbery, non-tender nodes
Splenomegaly
Hepatomegaly

191
Q

What are 3 tests for CLL

A

Increased lymphocytes
Autoimmune haemolysis
Marrow infiltration; decreased Hb, neutrophils, platelets

192
Q

What are 3 complications of CLL

A

Autoimmune haemolysis
Increased infection due to hypogammaglobulinemia
Marrow failure

193
Q

What are the 4 treatment options for CLL

A

Supportive care;
Transfusions
IV human immunoglobulin
Stem cell transplantation
Radiotherapy helps lymphadenopathy and splenomegaly
Chemotherapy – rituximab and fludarabine (first line)

194
Q

What is a lymphoma

A

A malignant growth of white blood cells – predominantly the lymph nodes but also found in the blood, bone marrow, liver and spleen.

195
Q

What is the pathology of lymphoma

A

Lymphomas are caused by malignant proliferations of lymphocytes. These accumulate in the lymph nodes causing lymphadenopathy.

196
Q

What shows hodgkins lymphoma histologically

A

Characteristic cells with mirror-image nuclei are found, called Reed-Sternberg.

197
Q

What are 4 symptoms of hodgkins lymphoma

A

Enlarged, non-tender, rubbery superficial lymph nodes.
Node size will fluctuate and become matted
Constitutional upset – fever, weight loss, night sweats, pruritus, lethargy.
Alcohol-induced lymph pain

198
Q

What are 4 signs of hodgkins lymphoma

A

Lymphadenopathy (abnormal lymph nodes)
Cachexia (weakness and wasting of the body due to severe chronic illness)
Anaemia
Spleno/hepatomegaly

199
Q

What are the investigations for hodgkins lymphoma

A

Tissue diagnosis;
Lymph node excision biopsy if possible.
Image guided needle biopsy
Imaging;
CXR
CT/PET of thorax, abdo and pelvis

200
Q

What are the 4 Ann-Arbor stages of hodgkins lymphoma

A

1 Confined to single lymph node region
2 Involvement of two or more nodal areas on the same side of the diaphragm
3 Involvement of nodes on both sides of the diaphragm
4 Spread beyond the lymph nodes on both sides of the diaphragm

201
Q

What is A and B stages for hodgkins lymphoma

A

Each Ann-Arbor stage is either ‘A’ (no systemic symptoms) or ‘B’ (presence of B symptoms) – weight loss, unexplained fever, night sweats. B indicates worse disease.

202
Q

What is the management for hodgkins lymphoma

A

chemotherapy
Stages IA-IIA: radiotherapy + short courses of chemotherapy
Stages IIA-IVB (with >3 areas involved): longer courses of chemotherapy
Relapsed disease: high-dose chemotherapy followed by autologous stem cell transplant.
Good long term survival – must minimise long term effects of treatment

203
Q

What is Non-hodgkins lymphoma

A

All lymphomas without Reed-Sternberg cells.

204
Q

What are 4 causes of Non-hodgkins lymphoma

A

Immunodeficiency
Drugs
HIV
Infection
Infection from EBV transform cells
Helicobacter pylori

205
Q

What the symptoms and signs of non-hodgkins lymphoma

A

Superficial lymphadenopathy
Extra-nodal disease
Fever
Night sweats
Weight loss
Pancytopenia from marrow involvement (anaemia, bleeding)
then local symptoms caused by lymphoma locations

206
Q

What are the investigations for Non-hodgkins lymphoma

A

Bloods: FBC (anaemia), U&E, LFT
Marrow and node biopsy: classify high/low grade
Staging: CT/PET of chest, abdomen, pelvis

207
Q

What are indolent lymphomas

A

Low-grade often incurable and widely disseminated (e.g. follicular lymphoma)
Symptomless – no treatment needed

208
Q

What is the treatment for indolent lymphomas

A

normally none needed and incurable
Radiotherapy curative in localised disease
Chemotherapy
Remission maintained by rituximab

209
Q

What are aggressive lymphomas

A

High-grade
More aggressive, often curable (e.g. Burkitt’s lymphoma)
Often rapidly enlarging lymphadenopathy with systemic symptoms

210
Q

What are the treatment options for aggressive lymphomas

A

Granulocyte colony-stimulating factors (G-CSFs) help neutropenia
‘R-CHOP’ chemotherapy regimen: rituximab, cyclophosphamide, hydroxydaunorubicin, oncovin, prednisolone.

211
Q

What is a myeloma

A

A malignant tumour of the bone marrow involving plasma cells (a type of WBC).

212
Q

What is multiple myeloma

A

neoplastic proliferation of bone marrow plasma cells.

213
Q

What are the characteristics of myelomas

A

Monoclonal protein in serum/urine
Lytic bone lesions/ CRAB end organ damage
Excess plasma cells in bone marrow

214
Q

What is dyscrasia

A

an abnormal state of a body part

215
Q

What is the pathology of myelomas

A

Plasma cell dyscrasias– an abnormal proliferation of a single clone of plasma/lymphoplasmacytic cells leading to secretion of immunoglobulin, causing the dysfunction of many organs.
Clonal expansion -> monoclonal gammopathy of undetermined significance (MGUS) -> early myeloma -> late myeloma -> plasma cell leukaemia

216
Q

What is the pathophysiology of myelomas

A

Clonal proliferation of bone marrow cells, usually capable of monoclonal antibodies (IgA/IgG). Can be associated with excretion of light chains in the urine.
Bone destruction – increased osteoclastic activity -> bone pain and osteolytic lesions.
Infiltration of bone marrow – reduced function.
AKI – due to light chain and amyloid deposition, hypercalcaemia and hyperuricaemia.

217
Q

What are 4 symptoms of myeloma

A

Tiredness and malaise
Bone destruction; Bone/back pain +/- fractures
Bone marrow infiltration; Recurrent bacterial infections (+anaemia)
Non-specific

218
Q

What are 7 signs of myeloma

A

Anaemia
Abnormal FBC
Osteolytic lesions
Renal failure
Hypercalcaemia
Raised globulins
Raised ESR

219
Q

What are 2 differential diagnoses for myeloma

A

Primary lymphoma of bone
Metastatic bone disease

220
Q

What are 4 investigations for myeloma

A

Protein in the blood (monoclonal protein band in serum or urine electrophoresis).
Bone marrow plasma cells in excess of 10% present in a biopsy
CRAB (calcium renal anaemia bone)
Chromosome abnormalities;
T(11;14) most common
13q- associated with treatment resistance and poorer prognosis

221
Q

What is the management of myeloma

A

Analgesia for bone pain
Bisphosphonate to reduce fracture rates and bone pain
Local radiotherapy can help rapidly in focal disease
Orthopaedic procedures (vertebroplasty) in vertebral collapse
Transfusions to correct anaemia
Infection – treat rapidly with broad-spectrum antibiotics
Acute kidney infection - hydration
Chemotherapy with stem cell transplant if possible

222
Q

What is malaria

A

An infectious disease caused by protozoan parasites from the Plasmodium family – transmitted by the bite of the Anopheles mosquito or by a contaminated needle or transfusion.

223
Q

What is the pathology of malaria

A

The bite of an infected female Anopheles mosquito.
Plasmodium sporozoites are passed on via bite of mosquito to human host.
Travel to liver, where maturation occurs forming schizonts.
May be a dormant stage before rupture – merozoites released which enter RBCs
Undergo asexual reproduction larger trophozoites and erythrocytic schizonts
The rupture of erythrocytic schizonts produces clinical manifestations of malaria

224
Q

What are 7 clinical manifestations of malaria

A

Fever – consider everyone to have malaria with fever who has visited a malarial area
Headache
Malaise
Myalgia
Diarrhoea
Cough
Delayed diagnosis – jaundice, confusion, seizures

225
Q

What are the differential diagnoses for malaria

A

Dengue
Typhoid
Hepatitis
Meningitis/ encephalitis
Viral haemorrhagic fever

226
Q

What are the investigations for malaria

A

Immediate blood testing is mandatory in the UK
Detailed travel history – country, date of return, stopovers in other countries.
Microscopy of thick and thin blood smear with giemsa stain
If first blood film comes back negative, serial blood films should be repeated at 12-24h and at 24h after.
Rapid diagnostic test detection of parasite antigen

227
Q

What is the management of malaria

A

Non-falciparum = chloroquine
Falciparum: non-complicated = chloroquine/hydroxychloroquine. Complicated = artesunate, quinine sulfate

Phase 2a Medicine (10 decks)

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