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4MB Medicine (My version) > Haematology > Flashcards

Haematology Flashcards

1
Q

What is anaemia?

A

Low concentration of haemoglobin in blood due to reduced number of red blood cells

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2
Q

What are the specific Hb cut-offs for anaemia in males and females?

A

Males: Hb less than 130 g/l
Females: Hb less than 120 g/l
Pregnant females: Hb less than 110 g/l

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3
Q

What are the two main categories of aetiology for anaemia?

A

Reduced production of red blood cells (ineffective erythropoiesis), causing reduced reticulocytes
Increased destruction of red blood cells (haemolysis, bleeding), causing increased reticulocytes

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4
Q

List clinical features of anaemia

A 
Tiredness, fatigue
Breathlessness
Pallor
Headache
Palpitations
Syncope
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5
Q

What investigations would you do for anaemia?

A

FBC - red cells, white cells, platelets, reticulocytes
Mean cell volume (distinguish between microcytic and macrocytic)
Blood film
Bone marrow aspirate

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6
Q

What is microcytic anaemia?

A

Reduced Hb production that results in small, hypochromic cells
Defined by reduced MCV

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7
Q

List aetiology for microcytic anaemia

A

Haem deficiency: iron deficiency, anaemia of chronic disease, defective porphyrin synthesis
Globin deficiency: thalassaemia
Sideroblastic anaemia

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8
Q

What is macrocytic anaemia?

A

Delayed nuclear maturation of erythroblasts due to defective DNA [megaloblastic macrocytic]
Normoblastic bone marrow [non-megaloblastic macrocytic]
Defined by raised MCV

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9
Q

List aetiology for macrocytic anaemia

A

Megaloblastic: B12/folate deficiency, enzyme deficiency, myelofibrosis

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10
Q

List aetiology for normocytic anaemia (normal MCV)

A 
Acute blood loss
Anaemia of chronic disease
Bone marrow failure (esp if leukopenia/thrombocytopenia)
Renal failure
Hypothyroidism
Pregnancy
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11
Q

List aetiology/risk factors for iron-deficiency anaemia

A

Dietary insufficiency
Menorrhagia
Malabsorption (Coeliac)
GI bleeding

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12
Q

List clinical features of iron-deficiency anaemia

A 
Spoon-shaped nails (koilonychia)
Glossitis
Angular cheilitis
Brittle hair
Features of microcytic anaemia
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13
Q

What investigations would you do for iron-deficiency anaemia?

A

FBC
Blood film: hypochromic microcytic cells, anisocytosis (varied shape), poikilocytosis (varied size)
Reduced ferritin, iron, MCV
Endoscopy if suspected GI bleeding

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14
Q

Outline management of iron-deficiency anaemia

A

Treat causes
Oral ferrous sulphate
IV iron if intolerant

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15
Q

List aetiology/risk factors for anaemia of chronic disease

A 
Chronic infection (TB, osteomyelitis)
Vasculitis
Rheumatoid arthritis
IBD
SLE
Polymyalgia rheumatica
Malignancy
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16
Q

What investigations would you do for anaemia chronic disease?

A 
Normal/raised ferritin
Reduced serum iron
Increased hepcidin (inhibits iron absorption)
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17
Q

Outline management of anaemia of chronic disease

A

Treat underlying cause

EPO injections stimulate RBC production

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18
Q

What is sideroblastic anaemia?

A

Refractory anaemia usually unresponsive to iron therapy

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19
Q

List aetiology/risk factors for sideroblastic anaemia

A 
Inherited X-linked disease
Myelodysplasia
Myeloproliferative disease
Myeloid leukaemia
Drugs, alcohol
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20
Q

What investigations would you do for sideroblastic anaemia?

A

Blood film: hypochromic cells, ring sideroblasts

Increased iron absorption + loading +- haemosiderosis

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21
Q

Outline management of sideroblastic anaemia

A

Treat cause
Pyroxidine (B6 supplement)
Transfuse if severe

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22
Q

Describe MCV, serum iron, serum ferritin and serum transferrin in iron deficiency anaemia

A

Reduced MCV
Reduced iron
Reduced ferritin
Increased transferrin

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23
Q

Describe MCV, serum iron, serum ferritin and serum transferrin in anaemia of chronic disease

A

Variable MCV
Reduced iron
Normal/increased ferritin
Normal transferrin

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24
Q

What is pernicious anaemia?

A

B12 deficiency caused by autoimmune destruction of gastric parietal cells, causing reduced absorption of B12

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25
Q

List clinical features of pernicious anaemia

A 
Symptoms of anaemia
Lemon-yellow skin
Polyneuropathy
Dementia
Psychosis
Subacute cord degeneration (posterolateral)
Paraesthesiae
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26
Q

What investigations would you do for pernicious anaemia?

A

Blood film: hypersegmented polymorphs, oval macrocytes
Reduced B12
Anti- parietal cell/intrinsic factor antibodies

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27
Q

Outline management of pernicious anaemia

A

Treat other causes (diet, malabsorption)
Oral B12 supplements
IM hydroxycobalamin

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28
Q

Where is B12 absorbed?

A

Ileum

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29
Q

Where is folate absorbed?

A

Duodenum

Jejunum

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30
Q

List aetiology/risk factors for folate deficiency

A

Poor diet
Increased demand (pregnancy, haemodialysis, malignancy)
Alcohol excess
Anti-folate agents (phenytoin, methotrexate, anti-epileptics, trimethoprim)

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31
Q

What investigations would you do for folate deficiency?

A

Blood film: megaloblastic
Reduced folate
GI biopsy

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32
Q

Outline management of folate deficiency

A

Folic acid

Treat causes

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33
Q

List aetiology of macrocytic non-megaloblastic anaemia

A 
Pregnancy
Alcohol
Reticulocytosis (e.g. compensated haemolysis)
Cirrhosis
Hypothyroidism
Aplastic anaemia
Drugs (hydroxycarbamide, azathioprine)
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34
Q

What is aplastic anaemia?

A

Stem cell disorder leading to pancytopenia and hypocellular marrow

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35
Q

List aetiology/risk factors for aplastic anaemia

A 
Autoimmunity
Idiopathic
Infection
Inherited (Fanconi anaemia)
Drugs (chloramphenicol, gold, penicillamine, anticonvulsants)
Chemicals (toluene, glue, benzene)
Viruses
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36
Q

What investigations would you do for aplastic anaemia?

A

FBC: pancytopenia

Marrow aspirate: fatty infiltrates

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37
Q

Outline management of aplastic anaemia

A

Treat low blood count - transfusion
Antibiotics if infection
Allogenic marrow transplant if under 50 yo
Immunosuppression (ciclosporin)

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38
Q

What is haemolysis?

A

Premature destruction of red blood cells before their lifespan (before 120 days)

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39
Q

What are the two different types/classifications of haemolysis?

A

Intravascular (occurs in circulation with spillage of abnormal RBC products)
Extravascular (occurs in reticuloendothelial system (liver, spleen, marrow) with excess normal RBC products)

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40
Q

What abnormal products are produced in intravascular haemolysis?

A 
Free haemoglobin
Methaemalbuminaemia
Haemoglobinuria
Haemosiderinuria
Urobilogenuria
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41
Q

List aetiology/risk factors for haemolysis

A

Inherited (spherocytosis, thalassaemia, sickle-cell, G6P deficiency)
Acquired (autoimmunity, alloimmunity, infection, drugs (penicillin, quinine)

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42
Q

List clinical features of haemolysis

A 
Jaundice
Hepatosplenomegaly 
Gallstones
Leg ulcers
Dark urine
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43
Q

What investigations would you do for haemolysis?

A 
FBC, reticulocytes
Bilirubin
LDH
Urinary urobilogen
Blood film
Direct antiglobulin Coomb's test
Indirect antiglobulin Coomb's test
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44
Q

What would you typically see on a blood film in haemolysis?

A

Increased reticulocytes - polychromasia, macrocytosis

Schistocytes/sickle cell/abnormal cells/eliptocytes/Heinz bodies

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45
Q

What is the direct antiglobulin Coomb’s test?

A

Test for autoimmune haemolytic anaemia

Identifies red cells coated/bound with antibody/Complement; +ve agglutination indicates immune cause of haemolysis

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46
Q

What is the indirect antiblobulin Coomb’s test?

A

Detects antibody produced against free/unbound RBC

Used in prenatal testing and before blood transfusions

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47
Q

What type of haemolysis occurs in autoimmune haemolytic anaemia?

A

Extravascular - antibody produced against RBC in reticuloendothelial system

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48
Q

What is the difference between “warm” and “cold” autoimmune haemolysis?

A

Warm: IgG binds to RBC better at 37’C
Cold: IgM binds to RBC better at low temperature

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49
Q

List clinical features of autoimmune haemolysis

A 
Anaemia symptoms
Jaundice
Splenomegaly
Infection
Worse symptoms in cold/hot
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50
Q

Outline management of autoimmune haemolysis

A

Warm: prednisolone, azathioprine, splenectomy
Cold: keep warm, chlorambucil, rituximab
Blood transfusion may be considered in both

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51
Q

What is microangiopathic haemolytic anaemia?

A

Mechanical disruption of RBC’s in circulation (essentially a type of intravascular haemolysis)

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52
Q

List aetiology/risk factors for microangiopathic haemolytic anaemia

A

Haemolytic uraemic syndrome (E coli 0157)
Thrombotic thrombocytopenic purpura
DIC
Pre-eclampsia

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53
Q

Outline management of microangiopathic haemolytic anaemia

A

Treat cause
Blood transfusion
Plasmapharesis

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54
Q

What is hereditary spherocytosis?

A

Autosomal dominant defect of RBC membrane, causing functional impairment of RBC’s, including inability to pass through spleen (extravascular haemolysis)

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55
Q

List clinical features of hereditary spherocytosis

A 
Jaundice at birth
Anaemia symptoms
Splenomegaly
Leg ulcers
Pigment stones
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56
Q

What investigations would you do for hereditary spherocytosis?

A

-ve direct Coomb’s test

Fragile RBC’s, spherocytes on blood film

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57
Q

Outline management of hereditary spherocytosis

A

Splenectomy

Prophylactic penicillin

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58
Q

What is glucose-6-phosphate deficiency?

A

X-linked G6P deficiency affects RBC production and destruction

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59
Q

List aetiology/risk factors for G6P deficiency

A

Africans, Mediterraneans, Eastern Europeans
Reduced glutathione (causes oxidative crisis)
Broad beans

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60
Q

What investigations would you do for G6P deficiency?

A

Blood film: bite cells, blister cells, Heinz bodies

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61
Q

Outline management of G6P deficiency

A 
Blood transfusion
Avoid precipitants (sulfonamides, aspirin, henna)
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62
Q

What are all the types of blood transfusion that can be given?

A

Whole blood (rare)
Red cells (for anaemia, blood loss)
Platelets
FFP (clotting factors)

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63
Q

Which antibody mediates an acute transfusion reaction?

A

IgM within 24 hours

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64
Q

List aetiology/risk factors for acute transfusion reaction

A 
ABO incompatibility
Rhesus reaction
Anaphylaxis
Contamination
HLA reactions
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65
Q

List clinical features of acute transfusion reactions

A 
Agitation
Fever
Hypotension
Flushing
Pain
DIC
Breathlessness
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66
Q

Outline management of an acute transfusion reaction

A 
Stop transfusion, check identity + origin of recipient and sample
IV fluids
Treat complications, maintain ABCDE
Antibiotics if contamination
Paracetamol
Chlorphenamine if anaphylaxis
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67
Q

Which antibody mediates delayed transfusion reaction?

A

IgG beyond 24 hours

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68
Q

List aetiology/risk factors for delayed transfusion reactions

A

Alloimmunisation by previoui transfusion/pregnancy
Infection
Iron overload
Graft vs host disease

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69
Q

What molecular units make up all the different types of haemoglobin in a foetus and in adults?

A 
HbF: alpha2-gamma2
HbA: alpha2-beta2
HbA2: alpha2-delta2
HbH: beta4
Barts: gamma4
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70
Q

What is thalassaemia?

A

Defective synthesis of one globin (alpha, beta) chain causes reduced Hb production and ineffective erythropoiesis

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71
Q

What is the pathophysiology of alpha-thalassaemia?

A

Deletion of one or both alpha-globin genes on c16

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72
Q

State the configuration of alpha-thalassaemia if one alpha-globin gene is deleted, the type of Hb produced and its clinical sequelae

A

αα/α-
“alpha-thalassaemia silent”
HbA produced
Mild naaemia

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73
Q

State the configuration of alpha-thalassaemia if two alpha-globin gene is deleted, the type of Hb produced and its clinical sequelae

A

α-/α- or αα/–
“alpha-thalassaemia trait”
HbA produced
Mild anaemia

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74
Q

State the configuration of alpha-thalassaemia if three alpha-globin gene is deleted, the type of Hb produced and its clinical sequelae

A

α-/–
“alpha-thalassaemia HbH disease”
HbH disease (either HbH or Barts Hb produced)
Mod-sev anaemia

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75
Q

State the configuration of alpha-thalassaemia if four alpha-globin gene is deleted, the type of Hb produced and its clinical sequelae

A

4 alpha-globin gene deletions (//-//)
“alpha-thalassaemia major”
Hb Barts produced
Severe anaemia, hydrops fetalis

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76
Q

List clinical features of alpha-thalassaemia

A 
Anaemia
Hepatosplenomegaly
Jaundice
Growth retardation
Hb Barts: oedema, cardiac failure, skeletal abnromality, death in utero
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77
Q

What investigations would you do for alpha-thalassaemia?

A

Blood film: HbH bodies (red cell inclusions), Mexican hat cells, target cells

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78
Q

Outline management of alpha-thalassaemia

A

Treat significant anaemia
Blood transfusions
Splenectomy

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79
Q

What is the pathophysiology of beta-thalassaemia?

A

Point mutation of one or both B-globin genes on c11

Excess chains combine with other chains, resulting in more HbA2/HbF

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80
Q

State the configuration of beta-thalassaemia if one beta-globin gene is mutated and its clinical sequelae

A

ββ+/ββ
“beta-thalassaemia minor”
Asymptomatic/mild anaemia

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81
Q

State the configuration of beta-thalassaemia if two beta-globin gene is mutated and its clinical sequelae

A

ββ+/β+β+
“beta-thalassaemia intermedia”
Moderate anaemia, splenomegaly, leg ulcers, infection

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82
Q

State the configuration of beta-thalassaemia if all beta-globin gene is mutated and its clinical sequelae

A

β+/β+
“beta-thalassaemia major”
Severe anaemia, failure to thrive, splenomegaly, bone deformity

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83
Q

What investigations would you do for beta-thalassaemia?

A

Blood film: hypochromic microcytic cells, nucleated RBC’s, lots of HbF compared to little/no HbA

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84
Q

Outline management of beta-thalassaemia

A

Fitness, healthy diet
Folic acid supplements
Regular transfusions for B-thalassaemia major
Iron-chelator if overload (desferrioxamine)
Splenectomy

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85
Q

What is sickle cell anaemia?

A

Autosomal recessive disorder of production of abnormal beta-globin chains

86
Q

What is the pathophysiology of sickle cell anaemia?

A

Base mutation of adenine to thymine on codon 6 of b-globin gene (c11) results in production of valine instead of glutamic acid, producing HbS instead of HbA

87
Q

What is the problem with HbS?

A

Polymerises in deoxygenated states, producing deformed RBC’s that are fragile, haemolyse and occlude vessels

88
Q

List clinical features of sickle cell disease

A 
Bone pain
Po hypertension
Infections
Anaemia
Growth impairment
Organomegaly
Vaso-occlusive crisis: dactylitis, abdo pain, seizure, AVN, leg ulcers, priapism
89
Q

What investigations would you do for sickle cell anaemia?

A 
FBC: reduced Hb, increased reticulocytes
Blood film: sickle cells, target cells
Hyposplenism
Sickle solubility test
Hb electrophoresis shows no HbA
90
Q

Outline management of sickle cell anaemia

A 
Avoid precipitants
IV fluids, analgesia, O2
Hydroxycarbamide if frequent crises
Folic acid
Antibiotic if infection (ceftriaxone)
Transfusions
Bone marrow transplant
91
Q

What is acute lymphoblastic leukaemia?

A

Neoplastic proliferation of blasts affecting B or T cell lymphocyte lineage

92
Q

Which haematological malignancy is the commonest childhood malignancy?

A

Acute lymphoblastic leukaemia

93
Q

List clinical features of acute lymphoblastic leukaemia

A 
Marrow failure (anaemia, infection, bleeding)
Sepsis
Bruising
Hepatosplenomegaly
Lymphadenopathy
Cranial nerve palsy
Meningism
Confusion
Bone pain
Gum hypertrophy
94
Q

What investigations would you do for acute lymphoblastic leukaemia?

A

FBC: reduced Hb, raised/reduced WCC, reduced platelets
Blood film: blasts, scanty cytoplasm
CD10/CD19 B cells
CD3 T cells
Lumbar puncture for CSF to check CNS involvement

95
Q

Outline management of acute lymphoblastic leukaemia

A 
Blood/platelet transfusion
IV fluids
Allopurinol prevents tumour lysis
IV antibiotics if infection, treat neutropenic sepsis
Chemotherapy, maintenance methotrexate
Allogenic stem cell marrow transplant
96
Q

What is acute myeloid leukaemia?

A

Neoplastic proliferation of blast cells affecting myeloid lineage (white blood cells)

97
Q

List clinical features of acute myeloid leukaemia

A 
Marrow failure (anaemia, infection, bleeding)
DIC in acute promyelotic leukaemia
Hepatosplenomegaly
Gum hypertrophy
Skin involvement
98
Q

What investigations would you do for acute myeloid leukaemia?

A

FBC: variable WCC, reduced platelets
Blood film: Auer rods
CD33, CD13 cells

99
Q

Outline management of acute myeloid leukaemia

A

Supportive care
All-trans-retinoic-acid (vitamin A) for acute prolmyelotic leukaemia
Chemotherapy (danorubicin, cytarabine)
Bone marrow transplant

100
Q

What is myelodysplasia?

A

Marrow failure resulting in production of abnormal/immature cells (blasts) affecting all lineages

101
Q

List aetiology/risk factors for myelodysplasia

A

Primary/idiopathic
Chemotherapy
Radiotherapy
Leukaemia

102
Q

List clinical features of myelodysplasia

A 
Marrow failure (anaemia, infection, bleeding)
Transformation into AML
103
Q

What investigations would you do for myelodysplasia?

A

FBC: pancytopenia, reduced reticulocytes

Blood film: increased marrow cellularity, ring sideroblasts

104
Q

Outline management of myelodysplasia

A

Multiple transfusions
EPO injections, G-CSF
Immunosuppression (ciclosporin)
Bone marrow transplant

105
Q

What is chronic myeloid leukaemia?

A

Uncontrolled clonal proliferation of myeloid cells that follows a slow, progressive course that may be followed by a blast crisis (transform into AML)

106
Q

What is the typical pathophysiology of chronic myeloid leukaemia?

A

Philadelphia chromosome - translocation on C9 produces BCR-ABL gene that produces tyrosine kinase activity and increases phosphorylation activity, resulting in more blast cell production

107
Q

List clinical features of chronic myeloid leukaemia

A 
Asymptomatic
Weight loss
Anaemia
Night sweats
Fever
Lymphadenopathy
Gout
Priapism
Abdo discomfort
Splenomegaly
Headache
108
Q

What investigations would you do for chronic myeloid leukaemia?

A

FBC: raised WCC, Hb low/normal

Blood film: hypercellular marrow, neutrophilia, smear cells, mature precursors

109
Q

Outline management of chronic myeloid leukaemia

A

Tyrosine kinase inhibitor - imatinib
Chemotherapy
Transplant

110
Q

What is chronic lymphoblastic leukaemia

A

Clonal expansion of lymphocytes - usually B cells - over a long period
Most common leukaemia

111
Q

List clinical features of chronic lymphoblastic leukaemia

A

Asymptomatic
Recurrent infections
Anaemia
Painless “rubbery” lymphadenopathy

112
Q

What investigations would you do for chronic lymphoblastic leukaemia?

A

FBC: raised WCC, low/normal Hb
Autoimmune haemolysis may occur
Blood film: mature cells, smudge cells
CD19, CD5, CD23 cells

113
Q

Outline management of chronic lymphoblastic leukaemia

A 
Treat if symptomatic
Chemotherapy (fludrarabine, cyclophosphamide)
Steroid if autoimmune haemolysis
EPO injections
Transfusions
114
Q

What is Hodgkin’s lymphoma?

A

Malignant proliferation of lymphocytes characterised by Reed-Sternberg cells

115
Q

List aetiology/risk factors for Hodgkin’s lymphoma

A 
Young adults, elderly
Males 2:1 females
Prior infection, especially EBV
Post-transplant
SLE
Western world
Obesity
116
Q

List clinical features of Hodgkin’s lymphoma

A 
Enlarged, painless, non-tender rubber lymph nodes
Hepatosplenomegaly
Fever
Weight loss
Night sweats
Pruritis
Alcohol-related pain
117
Q

What investigations would you do for Hodgkin’s lymphoma?

A 
LN excision biopsy
FBC
Bone marrow biopsy
Reed-Sternberg cells, popcorn cells
Ann Arbor classification directs treatment and prognosis
118
Q

Outline management of Hodgkin’s lymphoma

A

Chemotherapy (Adriamycin, Bleomycin, Bincristine, Dacarbazine)
Radiotherapy

119
Q

What is non-Hodgkin’s lymphoma?

A

Malignant proliferation of lymphocytes without Reed-Sternberg cells
Usually B-cell origin

120
Q

List aetiology/risk factors for non-Hodgkin’s lymphoma

A 
Congenital immunodeficiency
H. pylori
Agricultural toxins
HTLV-1
Gastric MALT
121
Q

List clinical features of non-Hodgkin’s lymphoma

A

Nodal: superficial lymphadenopathy
Extranodal: oropharynx, skin, gut, CNS, lung
Burkitt: jaw tumour in child
Systemic upset less common than in Hodgkin’s

122
Q

Outline management of non-Hodgkin’s lymphoma

A

Rituximab (CD20)
Allopurinol
Chlorambucil if diffuse
High-grade RCHOP chemotherapy (Rituximab, Cyclophosphamide, Hydroxydanorubicin, Vincristine, Prednisolone)

123
Q

What is polycythaemia rubra vera?

A

Malignant proliferation of erythroid, myeloid and megakaryocytic stem cells, producting excess RBC’s, WCC’s and platelets

124
Q

List aetiology/risk factors for polycythaemia rubra vera

A 
JAK2 mutation
Relative polycythaemia (alcohol, dehydration)
Secondary polycythaemia (high altitude, cyanotic heart, inappropriately high EPO)
125
Q

List clinical features of polycythaemia rubra vera

A 
Tiredness
Headaches
Dizziness
Tinnitus
Visual disturbance
Facial plethora
Itchiness after hot bath
Gout
Conjunctival injections
126
Q

What investigations would you do for polycythaemia rubra vera?

A

FBC: increased RBC, Hb, platelets, WCC, platelets

Blood film: hypercellular marrow, erythroid hyperplasia

127
Q

Outline management of polycythaemia rubra vera

A

Venesection
Hydroxycarbamide
Low-dose aspirin

128
Q

What is essential thrombocythaemia?

A

Clonal proliferation of megakaryocytes resulting in an abnormally high platelet count (greater than 1000 x 10^9)
N.B. once other causes of thrombocytosis are excluded

129
Q

List clinical features of essential thrombocythaemia

A

Headache
Bleeding
Atypical chest pain
Thromboembolism

130
Q

Outline management of essential thrombocythaemia

A

Low-dose aspirin
Hydroxycarbamide
Alpha-interferon

131
Q

What is myelofibrosis?

A

Fibrosis in bone marrow caused by hyperplasia of megakaryocytes
Results in myeloid metaplasia in spleen and liver, causing massive hepatosplenomegaly

132
Q

List clinical features of myelofibrosis

A 
Night sweats
Fever
Weight loss
Lethargy
Hepatosplenomegaly
Bone pain
Gout
133
Q

What investigations would you do for myelofibrosis?

A

Blood film: leukoerythroblastic cells - teadrop RBC’s, poikilocytes
Bone marrow trephine shows fibrosis

134
Q

Outline management of myelofibrosis

A

Folic acid
Splenectomy
JAK inhibitor (ruxolitinib)

135
Q

Which genetic mutation is typically associated with myeloproliferative disorders?

A

JAK2 mutation

136
Q

What is myeloma?

A

Malignant proliferation of B-lymphocyte -derived plasma cells
Single clone of plasma cells produce identical Ig, seen as a monoclonal band or paraprotein on electrophoresis

137
Q

What are the main paraproteins produced in myeloma?

A

Mainly IgG or IgA

Bence-Jones protein in urine

138
Q

List clinical features of myeloma

A

Osteolysis: bone pain, ache, fractures, vertebral collapse
Anaemia, infection, bleeding
Kidney injury due to light chain deposits: dysuria, haematuria

139
Q

What investigations would you do for myeloma?

A

FBC: normochromic normocytic anaemia, raised ESR
Blood film: rouleaux formation
Serum + urine electrophoresis (Bence Jones, Tamm Horsfall)
XR skull: pepperpot appearance in multiple myeloma

140
Q

What is the diagnostic criteria for myeloma?

A

Monoclonal protein band on electrophoresis
Increased plasma cells on marrow biopsy
Evidence of end-organ damage

141
Q

Outline management of myeloma

A

EPO +- blood transfusions
Treat complications (hypercalcaemia, renal failure, cord compression)
Chemotherapy (melphalan, prednisolone, bortezomib / vincristine, adriamycin, dexametasone)
Thalidomide in elderly may be useful

142
Q

What is amyloidosis?

A

Extracellular deposition of fibrillar protein (amyloid) that is resistant to degradation

143
Q

What are the two types of amyloidosis?

A

AL type: clonal plasma cell proliferation with amyloid production
AA type: amyloid derived from serum amyloid A (an acute phase protein)

144
Q

List aetiology/risk factors for amyloidosis?

A 
Alzheimer's
Diabetes
Haemodialysis
Autoimmunity
Familial
145
Q

List clinical features of amyloidosis

A 
Progressive organ damage (due to deposits)
Periorbital purpura
Neuropathy
Malabsorption
Nephrotic syndrome
146
Q

What investigations would you do for amyloidosis?

A

Organ biopsy

Congo red stain with red-green birefringence on light microscopy

147
Q

Outline management of amyloidosis

A

Treat symptoms and complications
Liver transplant
Chemotherapy/supportive treatment

148
Q

What is Waldenstrom’s macroglobulinaemia?

A

Clonal disorder of cells intermediate between a plasma cell and a lymphocyte, producing IgM paraprotein and hyperviscosity

149
Q

List clinical features of Waldernstrom’s macroglobulinemia

A 
Night sweats
Weight loss
Lymphadenopathy
Splenomegaly
Visual disturbance
150
Q

Outline management of Waldenstrom’s macroglobulinaemia

A

Chlorambucil

Fludasabine or combination chemotherapy

151
Q

What is monoclonal gammopathy of unknown significance (MGUS)?

A

Paraprotein in serum but not in significant amounts

May develop into myeloma

152
Q

List lab features of MGUS

A

Asymptomatic
No organ damage
Normal Ca and renal function
Fewer than 10% plasma cells in marrow

153
Q

What is pancytopenia?

A

Reduction of blood cells in all major cell lines (myeloid, erythroid, lymphoid), resulting in anaemia, leukopenia and thrombocytopenia

154
Q

What are the 2 broad aetiology for pancytopenia?

A

Reduced production of blood cells (marrow failure)

Increased destruction of blood cells (hypersplenism)

155
Q

List aetiology/risk factors for pancytopenia due to marrow failure

A 
Aplastic anaemia
Fanconi anaemia
Myelodysplasia
Haem malignancy
Myelofibrosis
Megaloblastic anaemia
Drugs
156
Q

List aetiology/risk factors for pancytopenia due to hypersplenism

A

Chronic myeloid leukaemia
Myelofibrosis
Hair cell leukaemia
Portal hypertension

157
Q

Outline management of pancytopenia

A 
Support: transfusion, antibiotic
Chemotherapy for malignancy
Marrow transplant
Immunosuppression
Supplements (B12, folate)
Splenectomy
158
Q

Define neutropenia

A

Neutrophil count of less than 0.5 x 10^9

Or less than 1 x 10^9 if receiving chemotherapy

159
Q

List aetiology/risk factors for neutropenia

A 
Infection
Autoimmunity
Pancytopenia
Drugs
Kostmann syndrome
Genetics
160
Q

List clinical features of neutropenia

A 
Sore throat
Recurrent infections
Confusion
Ulcers
Mucositis
161
Q

What investigations would you do for neutropenia?

A 
FBC
Antibody studies
Oral swabs
Blood cultures
CXR
162
Q

Outline management of neutropenia

A 
Antibiotics: pip-taz +- gentamicin
(refer to neutropenic sepsis protocol)
Steroids
IV Ig if severe
SEPSIS 6 protocol
163
Q

What is thrombotic thrombocytopenic purpura (TTP)?

A

Haematological emergency involving deficiency of protease that cleaves vWF, causing increased platelet aggregation and fibrin deposition in vessels

164
Q

List aetiology/risk factors for TTP

A 
Drugs (clopidogrel, ciclosporin)
Pregnancy
HIV
SLE
Other causes of thrombocytopenia
165
Q

List clinical features of TTP

A 
Fever
Florid purpura
Fluctuating CNS signs (seizure, altered consciousness, visual disturbance)
MAHA (microangiopathic haemolytic anaemia)
Jaundice
Mucosal bleeding
Renal failure
Haematuria
166
Q

Outline management of TTP

A

Urgent plasma exchange
Steroids
IV vincristine + Ig
Splenectomy if non-responsive

167
Q

List aetiology/risk factors for thrombocytopenia (think reduced platelet production/increased platelet destruction)

A 
Aplastic anaemia
Megaloblastic anaemia
Malignancy
Myelosuppression
Immune thrombocytopenic purpura (ITP)
Autoimmunity
Infection
Heparin
DIC
Thrombotic thrombocytopenic purpura (TTP)
Haemolytic uraemic syndrome
Hypersplenism
168
Q

What is immune thrombocytopenic purpura (ITP)

A

Acute reaction mediated by antiplatelet antibodies

169
Q

List clinical features of ITP

A 
Previous infection
Epistaxis
Menorrhagia
Mucocutaneous bleeding
Easy bruising, purpura
170
Q

There would typically be increased megakaryocytes on blood film in ITP. True/False?

A

True

171
Q

Outline management of ITP

A 
Conservative, watchful waiting
Prednisolone
IV Ig
Anti-D antibody
Splenectomy, immunosuppression
Thrombopoeitin (Eltrombopag) if unresponsibe
172
Q

Reduction in which protein is associated with TTP?

A

ADAMTS-13

173
Q

List aetiology/risk factors for non-reactive thrombocytosis

A

Essential thrombocytosis (ET)
Polycythaemia rubra vera
Chronic myeloid leukaemia
Myelofibrosis

174
Q

List aetiology/risk factors for reactive thrombocytosis

A 
Infection
Inflammation
Autoimmunity
Chronic disease
Iron deficiency
Post-surgery
Splenectomy
Haemolysis
175
Q

What is haemophilia?

A

Inherited X-linked recessive disorder involving deficiency of factor VIII (haemophilia A) or factor IX (haemophilia B), which results in reduced coagulation and more bleeding

176
Q

List clinical features of haemophilia

A 
Bleeding after injury/surgery
Spontaneous bleeding
Haemarthrosis
Haematomas
Nerve palsy
Compartment syndrome due to -ve pressure
177
Q

What investigations would you do for haemophilia?

A

Coagulation screen: increased APTT, reduced factor VIII/IX

Chorionic villus sample at 11-12 weeks gestation

178
Q

Outline management of haemophilia

A 
Factor VIII / IX concentrate
VIIa concentrate in inhibitor patients
Desmopressin
Pressure + elevation for minor bleeds
Hepatitis vaccine
Avoid NSAIDs and IM injections
179
Q

What is von Willebrand’s disease?

A

Autosomal dominant defect on c12 which causes deficiency of vWF, resulting in reduced platelet adhesion/aggregation and reduced factor VIII

180
Q

List clinical features of von Willebrand’s disease

A

Bleeding after trauma/surgery
Epistaxis
Excessive menorrhagia
Mucosal bleed

181
Q

What investigations would you do for von Willebrand’s disease?

A

Coagulation screen: reduced vWF, reduced factor VIII, increased APTT
Genetic testing

182
Q

Outline management of von Willebrand’s disease

A

Desmopressin

Factor VIII concentrate

183
Q

What effect does vitamin K deficiency have on clotting factors?

A

Reduced activation of factors II, VII, IX, X, protein C, protein S

184
Q

List aetiology of vitamin K deficiency

A

Haemorrhage
Malnutrition
Malabsorption
Warfarin

185
Q

List clinical features of vitamin K deficiency

A

Bruising
Hameaturia
GI bleed
Haemolytic disease of newborn

186
Q

PT time is prolonged in vitamin K deficiency. True/False?

A

True

187
Q

Outline management of vitamin K deficiency

A

Give vitamin K!

Stop warfarin

188
Q

What is disseminated intravascular coagulation (DIC)?

A

Widespread activation of coagulation, causing all platelets and clotting factors to be used up

189
Q

List aetiology/risk factors for DIC

A 
Malignancy
Sepsis
Obstetric emergencies
Liver disease
Trauma
190
Q

List clinical features of DIC

A

Bruising
Bleeding
Wide ecchymoses (skin discoloration)
Shock

191
Q

What investigations would you do for DIC?

A

Coagulation screen: reduced platelets, reduced fibrinogen, increased PT time, increased D-dimers
Blood film: fragmented cells

192
Q

Outline management of DIC

A

Treat cause

Transfuse platelets + FFP + red cells

193
Q

Describe the effect of heparin on INR, APTT, PTT and bleeding

A

Normal/prolonged INR
Prolonged APTT
Prolonged PT time
Normal bleeding time

194
Q

Describe the effect of DIC on INR, APTT, PTT and bleeding

A

Prolonged INR
Prolonged APTT
Prolonged PTT
Prolonged bleeding time

195
Q

Describe the effect of liver disease on INR, APTT, PTT and bleeding

A

Prolonged INR
Prolonged APTT
Normal/prolonged PTT
Normal/prolonged bleeding time

196
Q

Describe the effect of von Willebrand’s disease on INR, APTT, PTT and bleeding

A

Normal INR
Prolonged APTT
Normal PTT
Prolonged bleeding time

197
Q

Describe the effect of vitamin K deficiency on INR, APTT, PTT and bleeding

A

Prolonged INR
Prolonged APTT
Prolonged PT time
Normal bleeding time

198
Q

Describe the effect of haemophilia on INR, APTT, PTT and bleeding

A

Normal INR
Prolonged APTT
Normal PTT
Normal bleeding time

199
Q

What is a thrombus?

A

Solid mass formed in the circulation from the constituents of blood

200
Q

What is an emboli?

A

Fragment of a thrombus that breaks off and potentially occludes circulation

201
Q

List aetiology/risk factors for venous thromboembolism

A 
Age
Obesity
Immobility
Varicose veins
Foreign long-haul travel
Pregnancy
High oestrogen
Previous DVT/PE
Thrombophilia
Trauma
Surgery
Malignancy
202
Q

List aetiology/risk factors for arterial thromboembolism

A 
Obesity
Smoking
Organ disease
Hypertension
Hypercholesterolaemia
203
Q

List clinical features of thromboembolic disease

A 
Hot, swollen limbs
Dyspnoea
Pain
Oedema
Angina
Stroke
204
Q

What investigations would you do for thromboembolic disease?

A 
Bloods: FBC
Coagulation screen
D-dimers
CTPA, V/Q scan
Factor assays
205
Q

Outline management of venous thrombosis

N.B. note how each drug works

A 
Compression stockings, mobilise
Heparin (potentiates anti-thrombin)
Warfarin (inhibits vitamin K)
Rivaroxaban (inhibits Xa)
Dabigatran (inhibits IIa)
206
Q

Outline management of arterial thrombosis

N.B. note how each drug works

A

Diet and lifestyle advice
Aspirin (inhibits COX to reduce TXA2 to reduce platelet aggregation)
Clopidogrel (inhibits P2Y12 to block ADP to reduce platelet aggregation)
Abciximab (GP IIb-IIa inhibitor to reduce platelet activation)
Dypiramidole (inhibits platelet phosphodiesterase)

207
Q

What is thrombophilia?

A

Inherited or acquired disorders of haemostasis that predispose to thrombosis
Generally increase coagulation/decrease fibrinolysis/decrease anticoagulation

208
Q

List the main acquired thrombophilias

A

Antiphospholipid syndrome

Oral contraceptive pill use

209
Q

List the main inherited thrombophilias

A 
Factor V Leiden (variant of factor V causes inefficiency of protein C)
Prothrombin variant (20210 mutation increases prothrombin)
Protein C + S deficiency (autosomal dominant disorder of reduced cleavage of factor V and VIII)
Antithrombin deficiency (autosomal dominant disorder impairing activity of antithrombin)
210
Q

What investigations would you do for thrombophilia?

A

FBC
Coagulation screen, factor assays
Antibodies
Genetic tests/counselling

4MB Medicine (My version) (19 decks)

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