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Haematology Flashcards

1
Q

What is the most common inherited bleeding disorder?

A

Von Willebrand’s disease

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2
Q

Inheritance of Von Willebrand disease?

A

Type 1 (80%) is autosomal dominant

Type 3 is autosomal recessive

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3
Q

What does von Willebrand do?

A

Promotes platelet adhesion to damaged epithelium

Binds to factor VIII to prevent its clearance

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4
Q

Presentation of von Willebrand’s disease?

A

Mucosal bleeding - epistaxis, menorrhagia

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5
Q

Investigations for von Willebrand’s disease

A

Prolonged bleeding time
APTT may be prolonged
Factor VIII moderately reduced
Defective platelet aggregation with ristocetin

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6
Q

Management of von Willebrand’s disease

A

Tranexamic acid
Desmopressin
Factor VIII concentrate

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7
Q

How does desmopressin help in von Willebrand’s disease?

A

Increases levels of vWF by inducing vWF release from Weibel-Palade bodies in endothelial cells

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8
Q

Types of von Willebrand’s disease

A

Type 1: partial reduction in vWF
Type 2: abnormal form of vWF
Type 3: total lack of vWF

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9
Q

What should you consider if enlarged lymph nodes + itch?

A

Lymphoma

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10
Q

What is Hodgekin’s Lymphoma?

A

Malignant proliferation of lymphocytes characterised by presence of Reed Sternberg cells

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11
Q

In which condition do you see Reed Sternberg cells?

A

Hodgekin’s lymphoma

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12
Q

Risk factors for Hodgekin’s lymphoma

A

EBV
HIV
Immunosuppression
Smoking

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13
Q

Features of Hodgekin’s lymphoma

A 
Lymphadenopathy - painless, tender, asymmetrical
Fever, weight loss, night sweats
Pruritis
Alcohol induced lymph node pain
Mediastinal mass
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14
Q

What should alcohol induced lymph node pain make you think of?

A

Hodgekin’s lymphoma

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15
Q

Hodgekin’s lymphoma - blood results findings and investigations

A 
Normocytic anaemia, eosinophilia
Raised LDH
Raised ESR
HIV testing
LN biopsy
CXR
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16
Q

Management of Hodgekin’s lymphoma

A

Chemo + radio

If relapse then high dose chemo + autologous stem cell transplant

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17
Q

Prognosis for Hodgekin’s lymphoma

A

80-90% achieve remission

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18
Q

What is the staging system for Hodgekin’s lymphoma called?

A

Ann Arbour

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19
Q

Name three direct oral anticoagulants

A

Dabigatran
Rivaroxaban
Apixaban

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20
Q

How does dabigatran work?

A

Direct thrombin inhibitor

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21
Q

How does rivaroxaban work?

A

Direct factor Xa inhibitor

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22
Q

How does apixaban work?

A

Direct factor Xa inhibitor

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23
Q

Reversal agent for dabigatran

A

Indarucizumab

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24
Q

Reversal agent for rivaroxaban and apixaban

A

Andexanet alfa

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25
Indications for direct oral anticoagulants
Prevention of VTE in hip/knee surgery Treatment of DVT/PE Preventing stroke in non-valvular AF
26
What is the most common form of leukaemia in adults?
Chronic lymphocytic leukaemia
27
What is chronic lymphocytic leukaemia?
Monoclonal proliferation of well differentiated lymphocytes | almost always B cells
28
Features of CLL
``` Often asymptomatic Reduced appetite, weight loss Bleeding Infections Lymphadenopathy Splenomegaly, hepatomegaly ```
29
Investigations for CLL
``` Anaemia Lymphocytosis Peripheral blood film - smear cells Increased LDH BM biopsy ```
30
Which chromosomal abnormality is associated with CLL?
Philadelphia chromosome | Due to BCR ABL mutation
31
Management of CLL
Tyrosine kinase inhibitor - imatinib | Bone marrow transplant
32
Stages of CLL
1) Chronic 2) Accelerated stage 3) Blastic crisis - quickly fatal
33
Complications of CLL
Anaemia Hypogammaglobulinaemia Warm autoimmune haemolytic anaemia Transformation to high grade lymphoma (Richter's transformation)
34
What is Richter's transformation?
When CLL transforms due to high grade lymphoma
35
Excretion of riveroxaban
Liver
36
Excretion of apixaban
Faeces
37
Excretion of dabigatran
Renal
38
Drug causes of pancytopenia
``` Cytotoxics Trimethoprim, chloramphenicol Anti-rheumatoid: gold, penicillamine Carbimazole Carbamazepine Tolbutamide ```
39
Treatment when a patient is both B12 deficient and folate deficient
B12 replacement | Start oral folic acid when B12 levels normal
40
Macrocytic anaemia - megaloblastic causes
Vit B12 deficiency | Folate deficiency
41
Macrocytic anaemia - normoblastic causes
``` Alcohol Liver disease Hypothyroidism Pregnancy Reticulocytosis Myelodysplasia Cytotoxics ```
42
What is antiphospholipid syndrome?
Autoimmune disorder characterised by 1) Arterial and venous thromboembolism 2) Recurrent pregnancy loss 3) Thrombocytopenia
43
Investigations in antiphospholipid disorder
Raised aPL antibodies | Thrombocytopenia
44
Who should be screened for antiphospholipid disorder?
Stroke <50 years | 3 or more miscarriages before 10 weeks
45
Conditions associated with antiphospholipid disorder
SLE
46
Management of antiphospholipid disorder
Low dose aspirin once positive urinary test | LMWH once fetal heart beat on ultrasound (till 34 weeks)
47
Pregnancy complications in antiphospholipid disorder
``` Recurrent miscarriage IUGR Pre-eclampsia Placental abruption Preterm delivery Venous VTE ```
48
Who should get prophylaxis for neutropenic sepsis?
Patients anticipated to have neutrophil count <0.5
49
What is the prophylaxis for neutropenic sepsis?
fluoroquinolone
50
Empirical antibiotics for neutropenic sepsis
Tazocin (piperacillin with tazobactam)
51
At what time does neutropenic sepsis typically occur?
7-14 days after chemotherapy
52
Inheritance of sick cell haemoglobin
Autosomal recessive
53
When does sickle cell disease present?
Age 3 to 6 months after drop in HbF
54
Presentation of sickle cell disease
``` Anaemia Pallor Jaundice FTT Increased infections Splenomegaly ```
55
Types of sickle cell crises
``` Thrombotic Sequestration Acute chest syndrome Aplastic crises Haemolytic crises ```
56
Sickle cell disease - thrombotic crises
Painful/vasoocclusive Clinical diagnosis Can infarct organs and bones
57
What triggers a thrombotic crisis in sickle cell disease?
Infection Dehydration Deoxygenation
58
Sickle cell disease - sequestration
Sickling in organs causes pooling of blood and worsening anaemia Raised reticulocyte count
59
Sickle cell disease - what happens to the reticulocyte in sequestration crises?
Increases
60
Sickle cell disease - acute chest syndrome
Dyspnoea Chest pain Pulmonary infiltrates Reduced pO2
61
Sickle cell disease - aplastic crisis
Sudden drop in Hb Due to parvovirus Reduced reticulocyte due to bone marrow suppression
62
What triggers aplastic crisis in sickle cell disease?
Parvovirus
63
Sickle cell disease - what happens to the reticulocyte count in aplastic crisis?
Reduces due to bone marrow suppression
64
Sickle cell disease - haemolytic crisis
Fall in Hb due to increased haemolysis
65
Sickle cell disease - management of crises
``` Analgesia Fluids Oxygen Antibiotics if infection Blood transfusion Exchange infusion if neurological symptoms ```
66
Long term management of sickle cell disease
Hydroxyurea | Pneumococcal vaccine 5 yearly
67
What are Heinz bodies?
Clumps of damaged haemoglobin attached to red cells
68
Inheritance of G6PD deficiency
X linked recessive
69
Features of G6PD deficiency
``` Asymptomatic in most Neonatal jaundice Intravascular haemolysis Gallstones Splenomegaly Back/abdo pain ```
70
Investigations for G6PD deficiency
Blood film - heinz bodies G6PD enzyme assay Raised reticulocyte count
71
When should you do the G6PD enzyme assay?
3 months after acute haemolysis to avoid false negative
72
G6PD deficiency - what is the reticulocyte count?
Raised
73
G6PD deficiency - what are the precipitants of crises?
``` Infections Broad (fava) beans Antimalarials - primaquine Ciprofloxacin Sulph-group drugs: sulphonamides, sulphasalazine, sulpfonylurea ```
74
What is myeloma?
Neoplasm of the bone marrow plasma cells
75
Features of myeloma
Bone pain, osteoporosis, pathological #, osteolytic lesions lethargy Infection Hypercalcaemia Amyloidosis = cardiac failure, nephrotic syndrome
76
Investigations to diagnosis myeloma
``` Anaemia, leukopenia, thrombocytopenia Raised calcium Impaired renal function Serum protein electrophoresis Urine electrophoresis for Bence Jones protein IgG, IgA, IgM levels ```
77
Investigations to be done once myeloma is diagnosed
Bone marrow aspirate | Skeletal survey with whole body MRI
78
Treatment of myeloma in young patients
Autologous stem cell transplant
79
What is ITP?
Immune mediated reduction in platelets
80
What course does ITP take in adults?
Chronic
81
Presentation of ITP in adults
Incidental finding on routine bloods Petechia, purpura Bleeding e.g. epistaxis
82
Management of ITP in adults
Oral prednisolone IVIg Splenectomy
83
What is Evan's syndrome?
ITP in association with autoimmune haemolytic anaemia
84
Investigations for autoimmune haemolytic anaemia
Direct antiglobulin test (Coombs) - positive
85
Antibody responsible in Warm AIHA
IgG
86
Causes of Warm AIHA
Autoimmune e.g. SLE Lymphoma CLL Drugs e.g. methyldopa
87
Where does haemolysis take place in Warm AIHA?
Body temperature, haemolysis occurs in extravascular sites such as the spleen
88
Management of Warm AIHA
Steroids Immunosuppression Splenectomy
89
Antibody responsible in Cold AIHA
IgM
90
Causes of Cold AIHA
Lymphoma | Infection - mycoplasma, EBV
91
Where does haemolysis take place in Cold AIHA?
At 4 degrees | Occurs in extremities so is generally intravascular
92
Features of Cold AIHA
Raynaulds | Acrocyanosis
93
What should a Heinz body make you think of?
G6PD deficiency
94
What is aplastic anaemia?
Pancytopenia due to bone marrow failure
95
Features of aplastic anaemia
Anaemia = fatigue, pallor Thrombocytopenia = mucosal bleeding, petechiae Leukopenia = recurrent infection
96
Investigation results for aplastic anaemia
Low RBC, low PLT, low WCC Raised Epo Bone marrow biopsy = dry tap
97
Causes of aplastic anaemia
``` Idiopathic Congenital - most often Fanconi syndrome Infections Toxins Drugs ```
98
What is the most common congenital cause of aplastic anaemia?
Fanconi syndrome
99
What infections cause aplastic anaemia?
EBV Hepatitis Parvovirus HIV
100
What toxins cause aplastic anaemia?
Radiation | Benzene
101
What drugs cause aplastic anaemia?
``` Cytotoxics Sulfonamides Chloramphenicol Phenytoin Gold ```
102
Management of aplastic anaemia
Haemopoietic stem cell transplant Immunosuppression Blood and PLT transfusions
103
Where is vitamin B12 absorbed?
terminal ileum once bound to intrinsic factor
104
Where is intrinsic factor released?
Parietal cells in the stomach
105
Causes of B12 deficiency
Pernicious anaemia Post gastrectomy Vegan diet, poor diet Disorders of terminal ileum e.g. crohns
106
Features of B12 deficiency
``` Anaemia features Paraesthesia, numbness Cognitive changes Mood disturbance Glossitis Oral ulceration ```
107
B12 deficiency investigations
Macrocytic anaemia | Intrinsic factor antibody
108
Management of B12 deficiency
1mg IM hydroxocobalamin 3x a week for 2 weeks, then once every 3 months
109
Why is it important to replace B12 before replacing folate?
To avoid subacute combined degeneration of the cord
110
What is pernicious anaemia?
Autoimmune disorder affecting the gastric mucosa causing B12 deficiency
111
Pathophysiology of pernicious anaemia
Intrinsic factor antibodies - block vit B12 binding site Gastric parietal cell antibodies - cause atrophic gastritis to reduce intrinsic factor production
112
Features of pernicious anaemia
``` Anaemia = lethargy, pallor, dyspnoea Peripheral neuropathy Subacute combined degeneration of the cord Memory loss Confusion Irritable ```
113
What are the symptoms of subacute combined degeneration of the cord?
progressive weakness, ataxia and paresthesias that may progress to spasticity and paraplegia
114
Investigation results for pernicious anaemia
``` Macrocytic anaemia Hypersegmented polymorphs on blood film Vit B12 and folate deficiency Anti intrinsic factor antibodies Anti gastric parietal cell antibodies ```
115
Risk factors for pernicious anaemia
Female Middle/old age Blood group A Other autoimmune disorders
116
Management of pernicious anaemia
Vit B12 replacement | May also need folate replacement
117
Inheritance of haemophilia
X-linked recessive
118
Clotting factor affected in haemophilia A
Factor VIII
119
Clotting factor affected in haemophilia B
Factor IX
120
Factor VIII deficiency?
haemophilia A
121
Factor IX deficiency?
Haemophilia B
122
Which is the most common haemophilia?
A
123
Presentation of haemophilia
``` Excessive bleeding Haemarthrosis Haematoma Haematuria GI bleeding ```
124
Haemophilia Investigations
APTT prolonged Normal PT, bleeding time and fibrinogen
125
Management of haemophilia
Prophylactic VIII in haemophilia A | Prophylactic IX in haemophilia B
126
What is the most common inherited thrombophilia?
Factor V leiden
127
What is factor V leiden?
Inherited thromophilia
128
Which clotting factor is damaged in factor V leiden?
Factor V
129
Inheritence of factor V leiden
Autosomal dominant
130
Factor V Leiden presentation
Thrombophilia screen after VTE or recurrent pregnancy loss
131
Management of factor V leiden
Anticoagulation if get a clot | If pregnant + previous VTE then LMWH
132
What is prothrombin gene mutation?
Second most common inherited thrombophilia
133
What is protein S deficiency?
Inherited or acquired thrombophilia
134
What is protein S?
A natural anticoagulant
135
Inheritance of protein S deficiency
Autosomal dominant
136
What is protein C deficiency?
Inherited or acquired thrombophilia
137
What is protein C?
A natural anticoagulant
138
What is antithrombin III deficiency?
Inherited or acquired thrombophilia
139
What is antithrombin III?
A natural anticoagulant
140
What is hereditary spherocytosis?
Haemolytic anaemia caused by abnormal sphere shaped red blood cells
141
Inheritance of hereditary spherocytosis
Autosomal dominant
142
Presentation of hereditary spherocytosis
``` FTT Jaundice Gallstones Splenomegaly Aplastic crisis due to parvovirus ```
143
Investigations for hereditary spherocytosis
Raised MCHC Raised reticulocytes Spherocytes on blood film
144
Definitive investigation for hereditary spherocytosis
EMA binding test
145
Hereditary spherocytosis - chronic management
Folate replacement | Splenectomy
146
Hereditary spherocytosis - acute haemolytic crisis management
Supportive | Transfusion if necessary
147
What is paroxysmal nocturnal haemoglobinuria?
Acquired disorder causing haemolysis of haematological cells Can affect RBC, WCC, PLT or stem cells
148
Features of paroxysmal nocturnal haemoglobinuria
``` Haemolytic anaemia Thrombosis Pancytopenia Haemoglobinuria - classically in the morning Aplastic anaemia ```
149
Investigations for paroxysmal nocturnal haemoglobinuria
Flow cytometry | Ham's test - acid induced haemolysis
150
Treatment for paroxysmal nocturnal haemoglobinuria
Blood product replacement Anticoagulation Stem cell transplant
151
Relative causes of polycythaemia
Dehydration | Stress - Gaisbock syndrome
152
Causes of secondary polycythaemia
COPD Altitude OSA Excessive EPO
153
Typical features of polycythaemia vera
Hyperviscosity Pruritis Splenomegaly
154
What is polycythaemia vera?
Myeloproliferative disorder caused by proliferation of marrow stem cells, causing increased red cell volume
155
Features of polycythaemia vera
``` Hyperviscosity Pruritis Splenomegaly Haemorrhage - due to abnormal PLT Plethoric appearance HTN ```
156
Mutation implicated in polycythaemia vera
JAK2
157
Investigations for polycythaemia vera
``` Raised haematocrit Raised neutrophils, raised basophils Raised platelets Low ESR JAK2 mutations Bone marrow biopsy if JAK2 negative ```
158
Management for polycythaemia vera
Aspirin Venesection Chemotherapy
159
Prognosis of polycythaemia vera
Thrombosis 5-15% progress to myelofibrosis 5-15% progress to acute leukaemia
160
What is myelofibrosis?
Bone marrow cancer Myeloproliferative disorder where the bone marrow is replaced with scar tissue/fibrosis
161
What blood disorder is associated with Ashkenazi Jews?
Myelofibrosis
162
Which is the most common acute leukaemia in adults?
Acute myeloid leukaemia
163
Drugs causing pancytopenia
``` Cytotoxics Trimethoprim, chloramphenicol Anti-rheumatoid: gold, penicillamine Aarbimazole Carbamazepine Tolbutamide ```
164
Inheritance of Fanconi anaemia
Autosomal recessive
165
Features of Fanconi anaemia
``` Aplastic anaemia AML Short stature Thumb abnormalities Cafe au lait spots ```
166
What is Wiskott-Aldrich syndrome?
Primary immunodeficiency with B and T cell dysfunction
167
Genetics of Wiskott-Aldrich syndrome
X linked recessive | Mutation in the WASP gene
168
Features of Wiskott-Aldrich syndrome
Recurrent bacterial infections Eczema Thrombocytopenia Low IgM
169
What is immune thrombocytopenia?
Immune mediated reduction in platelets
170
Immune thrombocytopenia - presentation
Incidental finding Petechia, purpura Bleeding
171
Immune thrombocytopenia - management
Oral prednisolone IVIg Splenectomy (rare)
172
What is Evan's syndrome?
immune thrombocytopenia in association with autoimmune haemolytic anaemia
173
Heredtiary spherocytosis - common abdominal complication
gallstones
174
Which factor is deficient in haemophilia A?
VIII
175
Which factor is deficient in haemophilia B?
IX
176
Ca125 is a tumour marker for which cancers?
ovarian cancer
177
Ca19-9 is a tumour marker for which cancers?
pancreatic cancer
178
Ca15-3 is a tumour marker for which cancers?
breast cancer
179
AFP is a tumour marker for which cancers?
HCC | Teratoma (which is a non-seminomatous testicular cancer)
180
CEA is a tumour marker for which cancers?
colorectal
181
What drug can cause a false negative PSA?
Finasteride
182
What is Meig's syndrome?
ovarian fibroma + pleural effusion + ascites
183
Myelofibrosis - presentation
Weight loss, night sweats, low fever | Massive splenomegaly
184
Myelofibrosis - investigations
Anaemia Raised urate Raised LDH Tear drop shaped RBC BM aspirate: dry tap
185
What is essential thrombocythaemia?
Megakaryocyte proliferation increases circulating platelets which increases risk of thrombosis and bleeding
186
Essential thrombocythaemia - presentation
Burning pain and dusk discolouration of extremities Splenomegaly Livedo reticularis
187
What is haemolytic uraemic syndrome?
Triad: 1) Acute renal failure 2) Microangiopathic haemolytic anaemia 3) Thrombocytopenia
188
Haemolytic uraemic syndrome - causes
``` Dysentry Tumours Pregnancy Ciclosporin SLE HIV oral contraceptive pill ```
189
Haemolytic uraemic syndrome - typical presentation
Diffuse diarrhoea that turns bloody may have fever, abdo pain, vomiting
190
Haemolytic uraemic syndrome - investigations
``` Low Hb Low platelets Raised LDH Fragmented blood film Acute renal failure ```
191
Haemolytic uraemic syndrome - management
IV fluids | Dialysis
192
Acute lymphoblastic leukaemia - presentation
``` Fever Fatigue Lymphadenopathy Hepatosplenomegaly Painless unilateral testicular enlargement Bone pain ```
193
Acute lymphoblastic leukaemia - investigations
``` Low Hb Low platelets Low or high WCC Blood film: lymphoblasts BM biopsy: >30% lymphoblasts ```
194
Acute myeloid leukaemia - presentation
``` SOB, pallor, fatigue Recurrent infection Muscosal bleeding, petechiae Hepatosplenomegaly Lymphadenopathy Gum hypertrophy ```
195
Acute myeloid leukaemia - investigations
Low Hb Low or high WCC Blood film: blasts, Auer rods BM biopsy: >20% blasts
196
Chronic myeloid leukaemia - pathophysiology
Philadelphia Chromosome: t (9:22) BCR-ABL gene mutation
197
Chronic myeloid leukaemia - presentation
Middle age Anaemia, weight loss Splenomegaly Increased WCC may cause visual changes, priapism, deafness, confusion
198
Chronic myeloid leukaemia - management
Imatinib (tyrosine kinase inhibitor)
199
3 most common tumours causing bone metastases
Prostate Breast Lung
200
Top 5 most common site of bone metastases
``` Spine Pelvis Ribs Skull Long bones ```
201
Features of bone metastases
Pathological fractures Hypercalcaemia Raised ALP
202
3 most common cancers in women
Breast Lung Colorectal
203
5 most common causes of cancer deaths in the UK
``` Lung Colorectal Breast Prostate Pancreas ```
204
Risk factors for nausea and vomiting from chemotherapy
Anxiety Age <50 Concurrent opioid use Type of chemotherapy used
205
First line treatment for nausea for low risk patients getting chemotherapy
Metoclopramide
206
First line treatment for nausea for high risk patients getting chemotherapy
Ondanestron can be combined with dexamethasone
207
Side effects of cyclophosphamide
Haemorrhagic cystitis - reduced by hydration and mesna Myelosuppression Transitional cell carcinoma
208
Main cause of neoplastic spinal cord compression
Extradural compression due to vertebral body metastases
209
Features of neoplastic spinal cord compression
Back pain Lower limb weakness Sensory loss and numbness Neurological signs
210
Investigations for neoplastic spinal cord compression
Urgent MRI
211
Management of neoplastic spinal cod compression
High dose oral dexamethasone Oncology assessment to consider radiotherapy or surgery
212
What is superior vena cava obstruction?
Compression of the SVC | Usually by lung cancer
213
SVC obstruction - features
``` Dyspnoea Swelling of the face, neck, arms Headache Visual disturbance Pulseless jugular venous distension ```
214
SVC - causes
``` Malignancy Aortic aneurysm Mediastinal fibrosis Goitre SVC thrombosis ```
215
SVC - management options
SVC stent | Radical radio or chemo-radiotherapy
216
S-100 is a tumour marker for which cancers?
Melanoma | Schwannoma
217
Bombesin is a tumour marker for which cancers?
Small cell lung cancer Neuroblastoma Gastric cancer
218
What type of drug is ondanestron?
5HT3 receptor antagonist
219
Give an example of a 5HT3 antagonist
Ondanestron
220
Side effects of bleomycin
Lung fibrosis
221
Side effects of doxorubicin
Cardiomyopathy
222
Side effects of fluorouracil
Myelosuppression Mucositis Dermatitis
223
Side effects of 6-mercaptopurine
Myelosuppression
224
Side effects of cytarabine
Myelosuppression | Ataxia
225
Side effects of vincristine
Peripheral neuropathy | Paralytic ileus
226
Side effects of vinblastine
Myelosuppression
227
Side effects of docetaxel
Neutropenia
228
Side effects of cisplatin
Ototoxicity Peripheral neuropathy Hypomagnesaemia
229
3 most common cancers in men
Prostate Lung Bowel

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