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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
List clinical features of pernicious anaemia
``` Symptoms of anaemia Lemon-yellow skin Polyneuropathy Dementia Psychosis Subacute cord degeneration (posterolateral) Paraesthesiae ```
26
What investigations would you do for pernicious anaemia?
Blood film: hypersegmented polymorphs, oval macrocytes Reduced B12 Anti- parietal cell/intrinsic factor antibodies
27
Outline management of pernicious anaemia
Treat other causes (diet, malabsorption) Oral B12 supplements IM hydroxycobalamin
28
Where is B12 absorbed?
Ileum
29
Where is folate absorbed?
Duodenum | Jejunum
30
List aetiology/risk factors for folate deficiency
Poor diet Increased demand (pregnancy, haemodialysis, malignancy) Alcohol excess Anti-folate agents (phenytoin, methotrexate, anti-epileptics, trimethoprim)
31
What investigations would you do for folate deficiency?
Blood film: megaloblastic Reduced folate GI biopsy
32
Outline management of folate deficiency
Folic acid | Treat causes
33
List aetiology of macrocytic non-megaloblastic anaemia
``` Pregnancy Alcohol Reticulocytosis (e.g. compensated haemolysis) Cirrhosis Hypothyroidism Aplastic anaemia Drugs (hydroxycarbamide, azathioprine) ```
34
What is aplastic anaemia?
Stem cell disorder leading to pancytopenia and hypocellular marrow
35
List aetiology/risk factors for aplastic anaemia
``` Autoimmunity Idiopathic Infection Inherited (Fanconi anaemia) Drugs (chloramphenicol, gold, penicillamine, anticonvulsants) Chemicals (toluene, glue, benzene) Viruses ```
36
What investigations would you do for aplastic anaemia?
FBC: pancytopenia | Marrow aspirate: fatty infiltrates
37
Outline management of aplastic anaemia
Treat low blood count - transfusion Antibiotics if infection Allogenic marrow transplant if under 50 yo Immunosuppression (ciclosporin)
38
What is haemolysis?
Premature destruction of red blood cells before their lifespan (before 120 days)
39
What are the two different types/classifications of haemolysis?
Intravascular (occurs in circulation with spillage of abnormal RBC products) Extravascular (occurs in reticuloendothelial system (liver, spleen, marrow) with excess normal RBC products)
40
What abnormal products are produced in intravascular haemolysis?
``` Free haemoglobin Methaemalbuminaemia Haemoglobinuria Haemosiderinuria Urobilogenuria ```
41
List aetiology/risk factors for haemolysis
Inherited (spherocytosis, thalassaemia, sickle-cell, G6P deficiency) Acquired (autoimmunity, alloimmunity, infection, drugs (penicillin, quinine)
42
List clinical features of haemolysis
``` Jaundice Hepatosplenomegaly Gallstones Leg ulcers Dark urine ```
43
What investigations would you do for haemolysis?
``` FBC, reticulocytes Bilirubin LDH Urinary urobilogen Blood film Direct antiglobulin Coomb's test Indirect antiglobulin Coomb's test ```
44
What would you typically see on a blood film in haemolysis?
Increased reticulocytes - polychromasia, macrocytosis | Schistocytes/sickle cell/abnormal cells/eliptocytes/Heinz bodies
45
What is the direct antiglobulin Coomb's test?
Test for autoimmune haemolytic anaemia | Identifies red cells coated/bound with antibody/Complement; +ve agglutination indicates immune cause of haemolysis
46
What is the indirect antiblobulin Coomb's test?
Detects antibody produced against free/unbound RBC | Used in prenatal testing and before blood transfusions
47
What type of haemolysis occurs in autoimmune haemolytic anaemia?
Extravascular - antibody produced against RBC in reticuloendothelial system
48
What is the difference between "warm" and "cold" autoimmune haemolysis?
Warm: IgG binds to RBC better at 37'C Cold: IgM binds to RBC better at low temperature
49
List clinical features of autoimmune haemolysis
``` Anaemia symptoms Jaundice Splenomegaly Infection Worse symptoms in cold/hot ```
50
Outline management of autoimmune haemolysis
Warm: prednisolone, azathioprine, splenectomy Cold: keep warm, chlorambucil, rituximab Blood transfusion may be considered in both
51
What is microangiopathic haemolytic anaemia?
Mechanical disruption of RBC's in circulation (essentially a type of intravascular haemolysis)
52
List aetiology/risk factors for microangiopathic haemolytic anaemia
Haemolytic uraemic syndrome (E coli 0157) Thrombotic thrombocytopenic purpura DIC Pre-eclampsia
53
Outline management of microangiopathic haemolytic anaemia
Treat cause Blood transfusion Plasmapharesis
54
What is hereditary spherocytosis?
Autosomal dominant defect of RBC membrane, causing functional impairment of RBC's, including inability to pass through spleen (extravascular haemolysis)
55
List clinical features of hereditary spherocytosis
``` Jaundice at birth Anaemia symptoms Splenomegaly Leg ulcers Pigment stones ```
56
What investigations would you do for hereditary spherocytosis?
-ve direct Coomb's test | Fragile RBC's, spherocytes on blood film
57
Outline management of hereditary spherocytosis
Splenectomy | Prophylactic penicillin
58
What is glucose-6-phosphate deficiency?
X-linked G6P deficiency affects RBC production and destruction
59
List aetiology/risk factors for G6P deficiency
Africans, Mediterraneans, Eastern Europeans Reduced glutathione (causes oxidative crisis) Broad beans
60
What investigations would you do for G6P deficiency?
Blood film: bite cells, blister cells, Heinz bodies
61
Outline management of G6P deficiency
``` Blood transfusion Avoid precipitants (sulfonamides, aspirin, henna) ```
62
What are all the types of blood transfusion that can be given?
Whole blood (rare) Red cells (for anaemia, blood loss) Platelets FFP (clotting factors)
63
Which antibody mediates an acute transfusion reaction?
IgM within 24 hours
64
List aetiology/risk factors for acute transfusion reaction
``` ABO incompatibility Rhesus reaction Anaphylaxis Contamination HLA reactions ```
65
List clinical features of acute transfusion reactions
``` Agitation Fever Hypotension Flushing Pain DIC Breathlessness ```
66
Outline management of an acute transfusion reaction
``` Stop transfusion, check identity + origin of recipient and sample IV fluids Treat complications, maintain ABCDE Antibiotics if contamination Paracetamol Chlorphenamine if anaphylaxis ```
67
Which antibody mediates delayed transfusion reaction?
IgG beyond 24 hours
68
List aetiology/risk factors for delayed transfusion reactions
Alloimmunisation by previoui transfusion/pregnancy Infection Iron overload Graft vs host disease
69
What molecular units make up all the different types of haemoglobin in a foetus and in adults?
``` HbF: alpha2-gamma2 HbA: alpha2-beta2 HbA2: alpha2-delta2 HbH: beta4 Barts: gamma4 ```
70
What is thalassaemia?
Defective synthesis of one globin (alpha, beta) chain causes reduced Hb production and ineffective erythropoiesis
71
What is the pathophysiology of alpha-thalassaemia?
Deletion of one or both alpha-globin genes on c16
72
State the configuration of alpha-thalassaemia if one alpha-globin gene is deleted, the type of Hb produced and its clinical sequelae
αα/α- "alpha-thalassaemia silent" HbA produced Mild naaemia
73
State the configuration of alpha-thalassaemia if two alpha-globin gene is deleted, the type of Hb produced and its clinical sequelae
α-/α- or αα/-- "alpha-thalassaemia trait" HbA produced Mild anaemia
74
State the configuration of alpha-thalassaemia if three alpha-globin gene is deleted, the type of Hb produced and its clinical sequelae
α-/-- "alpha-thalassaemia HbH disease" HbH disease (either HbH or Barts Hb produced) Mod-sev anaemia
75
State the configuration of alpha-thalassaemia if four alpha-globin gene is deleted, the type of Hb produced and its clinical sequelae
4 alpha-globin gene deletions (//-//) "alpha-thalassaemia major" Hb Barts produced Severe anaemia, hydrops fetalis
76
List clinical features of alpha-thalassaemia
``` Anaemia Hepatosplenomegaly Jaundice Growth retardation Hb Barts: oedema, cardiac failure, skeletal abnromality, death in utero ```
77
What investigations would you do for alpha-thalassaemia?
Blood film: HbH bodies (red cell inclusions), Mexican hat cells, target cells
78
Outline management of alpha-thalassaemia
Treat significant anaemia Blood transfusions Splenectomy
79
What is the pathophysiology of beta-thalassaemia?
Point mutation of one or both B-globin genes on c11 | Excess chains combine with other chains, resulting in more HbA2/HbF
80
State the configuration of beta-thalassaemia if one beta-globin gene is mutated and its clinical sequelae
ββ+/ββ "beta-thalassaemia minor" Asymptomatic/mild anaemia
81
State the configuration of beta-thalassaemia if two beta-globin gene is mutated and its clinical sequelae
ββ+/β+β+ "beta-thalassaemia intermedia" Moderate anaemia, splenomegaly, leg ulcers, infection
82
State the configuration of beta-thalassaemia if all beta-globin gene is mutated and its clinical sequelae
β+/β+ "beta-thalassaemia major" Severe anaemia, failure to thrive, splenomegaly, bone deformity
83
What investigations would you do for beta-thalassaemia?
Blood film: hypochromic microcytic cells, nucleated RBC's, lots of HbF compared to little/no HbA
84
Outline management of beta-thalassaemia
Fitness, healthy diet Folic acid supplements Regular transfusions for B-thalassaemia major Iron-chelator if overload (desferrioxamine) Splenectomy
85
What is sickle cell anaemia?
Autosomal recessive disorder of production of abnormal beta-globin chains
86
What is the pathophysiology of sickle cell anaemia?
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
What is the problem with HbS?
Polymerises in deoxygenated states, producing deformed RBC's that are fragile, haemolyse and occlude vessels
88
List clinical features of sickle cell disease
``` Bone pain Po hypertension Infections Anaemia Growth impairment Organomegaly Vaso-occlusive crisis: dactylitis, abdo pain, seizure, AVN, leg ulcers, priapism ```
89
What investigations would you do for sickle cell anaemia?
``` FBC: reduced Hb, increased reticulocytes Blood film: sickle cells, target cells Hyposplenism Sickle solubility test Hb electrophoresis shows no HbA ```
90
Outline management of sickle cell anaemia
``` Avoid precipitants IV fluids, analgesia, O2 Hydroxycarbamide if frequent crises Folic acid Antibiotic if infection (ceftriaxone) Transfusions Bone marrow transplant ```
91
What is acute lymphoblastic leukaemia?
Neoplastic proliferation of blasts affecting B or T cell lymphocyte lineage
92
Which haematological malignancy is the commonest childhood malignancy?
Acute lymphoblastic leukaemia
93
List clinical features of acute lymphoblastic leukaemia
``` Marrow failure (anaemia, infection, bleeding) Sepsis Bruising Hepatosplenomegaly Lymphadenopathy Cranial nerve palsy Meningism Confusion Bone pain Gum hypertrophy ```
94
What investigations would you do for acute lymphoblastic leukaemia?
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
Outline management of acute lymphoblastic leukaemia
``` 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
What is acute myeloid leukaemia?
Neoplastic proliferation of blast cells affecting myeloid lineage (white blood cells)
97
List clinical features of acute myeloid leukaemia
``` Marrow failure (anaemia, infection, bleeding) DIC in acute promyelotic leukaemia Hepatosplenomegaly Gum hypertrophy Skin involvement ```
98
What investigations would you do for acute myeloid leukaemia?
FBC: variable WCC, reduced platelets Blood film: Auer rods CD33, CD13 cells
99
Outline management of acute myeloid leukaemia
Supportive care All-trans-retinoic-acid (vitamin A) for acute prolmyelotic leukaemia Chemotherapy (danorubicin, cytarabine) Bone marrow transplant
100
What is myelodysplasia?
Marrow failure resulting in production of abnormal/immature cells (blasts) affecting all lineages
101
List aetiology/risk factors for myelodysplasia
Primary/idiopathic Chemotherapy Radiotherapy Leukaemia
102
List clinical features of myelodysplasia
``` Marrow failure (anaemia, infection, bleeding) Transformation into AML ```
103
What investigations would you do for myelodysplasia?
FBC: pancytopenia, reduced reticulocytes | Blood film: increased marrow cellularity, ring sideroblasts
104
Outline management of myelodysplasia
Multiple transfusions EPO injections, G-CSF Immunosuppression (ciclosporin) Bone marrow transplant
105
What is chronic myeloid leukaemia?
Uncontrolled clonal proliferation of myeloid cells that follows a slow, progressive course that may be followed by a blast crisis (transform into AML)
106
What is the typical pathophysiology of chronic myeloid leukaemia?
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
List clinical features of chronic myeloid leukaemia
``` Asymptomatic Weight loss Anaemia Night sweats Fever Lymphadenopathy Gout Priapism Abdo discomfort Splenomegaly Headache ```
108
What investigations would you do for chronic myeloid leukaemia?
FBC: raised WCC, Hb low/normal | Blood film: hypercellular marrow, neutrophilia, smear cells, mature precursors
109
Outline management of chronic myeloid leukaemia
Tyrosine kinase inhibitor - imatinib Chemotherapy Transplant
110
What is chronic lymphoblastic leukaemia
Clonal expansion of lymphocytes - usually B cells - over a long period Most common leukaemia
111
List clinical features of chronic lymphoblastic leukaemia
Asymptomatic Recurrent infections Anaemia Painless "rubbery" lymphadenopathy
112
What investigations would you do for chronic lymphoblastic leukaemia?
FBC: raised WCC, low/normal Hb Autoimmune haemolysis may occur Blood film: mature cells, smudge cells CD19, CD5, CD23 cells
113
Outline management of chronic lymphoblastic leukaemia
``` Treat if symptomatic Chemotherapy (fludrarabine, cyclophosphamide) Steroid if autoimmune haemolysis EPO injections Transfusions ```
114
What is Hodgkin's lymphoma?
Malignant proliferation of lymphocytes characterised by Reed-Sternberg cells
115
List aetiology/risk factors for Hodgkin's lymphoma
``` Young adults, elderly Males 2:1 females Prior infection, especially EBV Post-transplant SLE Western world Obesity ```
116
List clinical features of Hodgkin's lymphoma
``` Enlarged, painless, non-tender rubber lymph nodes Hepatosplenomegaly Fever Weight loss Night sweats Pruritis Alcohol-related pain ```
117
What investigations would you do for Hodgkin's lymphoma?
``` LN excision biopsy FBC Bone marrow biopsy Reed-Sternberg cells, popcorn cells Ann Arbor classification directs treatment and prognosis ```
118
Outline management of Hodgkin's lymphoma
Chemotherapy (Adriamycin, Bleomycin, Bincristine, Dacarbazine) Radiotherapy
119
What is non-Hodgkin's lymphoma?
Malignant proliferation of lymphocytes without Reed-Sternberg cells Usually B-cell origin
120
List aetiology/risk factors for non-Hodgkin's lymphoma
``` Congenital immunodeficiency H. pylori Agricultural toxins HTLV-1 Gastric MALT ```
121
List clinical features of non-Hodgkin's lymphoma
Nodal: superficial lymphadenopathy Extranodal: oropharynx, skin, gut, CNS, lung Burkitt: jaw tumour in child Systemic upset less common than in Hodgkin's
122
Outline management of non-Hodgkin's lymphoma
Rituximab (CD20) Allopurinol Chlorambucil if diffuse High-grade RCHOP chemotherapy (Rituximab, Cyclophosphamide, Hydroxydanorubicin, Vincristine, Prednisolone)
123
What is polycythaemia rubra vera?
Malignant proliferation of erythroid, myeloid and megakaryocytic stem cells, producting excess RBC's, WCC's and platelets
124
List aetiology/risk factors for polycythaemia rubra vera
``` JAK2 mutation Relative polycythaemia (alcohol, dehydration) Secondary polycythaemia (high altitude, cyanotic heart, inappropriately high EPO) ```
125
List clinical features of polycythaemia rubra vera
``` Tiredness Headaches Dizziness Tinnitus Visual disturbance Facial plethora Itchiness after hot bath Gout Conjunctival injections ```
126
What investigations would you do for polycythaemia rubra vera?
FBC: increased RBC, Hb, platelets, WCC, platelets | Blood film: hypercellular marrow, erythroid hyperplasia
127
Outline management of polycythaemia rubra vera
Venesection Hydroxycarbamide Low-dose aspirin
128
What is essential thrombocythaemia?
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
List clinical features of essential thrombocythaemia
Headache Bleeding Atypical chest pain Thromboembolism
130
Outline management of essential thrombocythaemia
Low-dose aspirin Hydroxycarbamide Alpha-interferon
131
What is myelofibrosis?
Fibrosis in bone marrow caused by hyperplasia of megakaryocytes Results in myeloid metaplasia in spleen and liver, causing massive hepatosplenomegaly
132
List clinical features of myelofibrosis
``` Night sweats Fever Weight loss Lethargy Hepatosplenomegaly Bone pain Gout ```
133
What investigations would you do for myelofibrosis?
Blood film: leukoerythroblastic cells - teadrop RBC's, poikilocytes Bone marrow trephine shows fibrosis
134
Outline management of myelofibrosis
Folic acid Splenectomy JAK inhibitor (ruxolitinib)
135
Which genetic mutation is typically associated with myeloproliferative disorders?
JAK2 mutation
136
What is myeloma?
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
What are the main paraproteins produced in myeloma?
Mainly IgG or IgA | Bence-Jones protein in urine
138
List clinical features of myeloma
Osteolysis: bone pain, ache, fractures, vertebral collapse Anaemia, infection, bleeding Kidney injury due to light chain deposits: dysuria, haematuria
139
What investigations would you do for myeloma?
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
What is the diagnostic criteria for myeloma?
Monoclonal protein band on electrophoresis Increased plasma cells on marrow biopsy Evidence of end-organ damage
141
Outline management of myeloma
EPO +- blood transfusions Treat complications (hypercalcaemia, renal failure, cord compression) Chemotherapy (melphalan, prednisolone, bortezomib / vincristine, adriamycin, dexametasone) Thalidomide in elderly may be useful
142
What is amyloidosis?
Extracellular deposition of fibrillar protein (amyloid) that is resistant to degradation
143
What are the two types of amyloidosis?
AL type: clonal plasma cell proliferation with amyloid production AA type: amyloid derived from serum amyloid A (an acute phase protein)
144
List aetiology/risk factors for amyloidosis?
``` Alzheimer's Diabetes Haemodialysis Autoimmunity Familial ```
145
List clinical features of amyloidosis
``` Progressive organ damage (due to deposits) Periorbital purpura Neuropathy Malabsorption Nephrotic syndrome ```
146
What investigations would you do for amyloidosis?
Organ biopsy | Congo red stain with red-green birefringence on light microscopy
147
Outline management of amyloidosis
Treat symptoms and complications Liver transplant Chemotherapy/supportive treatment
148
What is Waldenstrom's macroglobulinaemia?
Clonal disorder of cells intermediate between a plasma cell and a lymphocyte, producing IgM paraprotein and hyperviscosity
149
List clinical features of Waldernstrom's macroglobulinemia
``` Night sweats Weight loss Lymphadenopathy Splenomegaly Visual disturbance ```
150
Outline management of Waldenstrom's macroglobulinaemia
Chlorambucil | Fludasabine or combination chemotherapy
151
What is monoclonal gammopathy of unknown significance (MGUS)?
Paraprotein in serum but not in significant amounts | May develop into myeloma
152
List lab features of MGUS
Asymptomatic No organ damage Normal Ca and renal function Fewer than 10% plasma cells in marrow
153
What is pancytopenia?
Reduction of blood cells in all major cell lines (myeloid, erythroid, lymphoid), resulting in anaemia, leukopenia and thrombocytopenia
154
What are the 2 broad aetiology for pancytopenia?
Reduced production of blood cells (marrow failure) | Increased destruction of blood cells (hypersplenism)
155
List aetiology/risk factors for pancytopenia due to marrow failure
``` Aplastic anaemia Fanconi anaemia Myelodysplasia Haem malignancy Myelofibrosis Megaloblastic anaemia Drugs ```
156
List aetiology/risk factors for pancytopenia due to hypersplenism
Chronic myeloid leukaemia Myelofibrosis Hair cell leukaemia Portal hypertension
157
Outline management of pancytopenia
``` Support: transfusion, antibiotic Chemotherapy for malignancy Marrow transplant Immunosuppression Supplements (B12, folate) Splenectomy ```
158
Define neutropenia
Neutrophil count of less than 0.5 x 10^9 | Or less than 1 x 10^9 if receiving chemotherapy
159
List aetiology/risk factors for neutropenia
``` Infection Autoimmunity Pancytopenia Drugs Kostmann syndrome Genetics ```
160
List clinical features of neutropenia
``` Sore throat Recurrent infections Confusion Ulcers Mucositis ```
161
What investigations would you do for neutropenia?
``` FBC Antibody studies Oral swabs Blood cultures CXR ```
162
Outline management of neutropenia
``` Antibiotics: pip-taz +- gentamicin (refer to neutropenic sepsis protocol) Steroids IV Ig if severe SEPSIS 6 protocol ```
163
What is thrombotic thrombocytopenic purpura (TTP)?
Haematological emergency involving deficiency of protease that cleaves vWF, causing increased platelet aggregation and fibrin deposition in vessels
164
List aetiology/risk factors for TTP
``` Drugs (clopidogrel, ciclosporin) Pregnancy HIV SLE Other causes of thrombocytopenia ```
165
List clinical features of TTP
``` Fever Florid purpura Fluctuating CNS signs (seizure, altered consciousness, visual disturbance) MAHA (microangiopathic haemolytic anaemia) Jaundice Mucosal bleeding Renal failure Haematuria ```
166
Outline management of TTP
Urgent plasma exchange Steroids IV vincristine + Ig Splenectomy if non-responsive
167
List aetiology/risk factors for thrombocytopenia (think reduced platelet production/increased platelet destruction)
``` Aplastic anaemia Megaloblastic anaemia Malignancy Myelosuppression Immune thrombocytopenic purpura (ITP) Autoimmunity Infection Heparin DIC Thrombotic thrombocytopenic purpura (TTP) Haemolytic uraemic syndrome Hypersplenism ```
168
What is immune thrombocytopenic purpura (ITP)
Acute reaction mediated by antiplatelet antibodies
169
List clinical features of ITP
``` Previous infection Epistaxis Menorrhagia Mucocutaneous bleeding Easy bruising, purpura ```
170
There would typically be increased megakaryocytes on blood film in ITP. True/False?
True
171
Outline management of ITP
``` Conservative, watchful waiting Prednisolone IV Ig Anti-D antibody Splenectomy, immunosuppression Thrombopoeitin (Eltrombopag) if unresponsibe ```
172
Reduction in which protein is associated with TTP?
ADAMTS-13
173
List aetiology/risk factors for non-reactive thrombocytosis
Essential thrombocytosis (ET) Polycythaemia rubra vera Chronic myeloid leukaemia Myelofibrosis
174
List aetiology/risk factors for reactive thrombocytosis
``` Infection Inflammation Autoimmunity Chronic disease Iron deficiency Post-surgery Splenectomy Haemolysis ```
175
What is haemophilia?
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
List clinical features of haemophilia
``` Bleeding after injury/surgery Spontaneous bleeding Haemarthrosis Haematomas Nerve palsy Compartment syndrome due to -ve pressure ```
177
What investigations would you do for haemophilia?
Coagulation screen: increased APTT, reduced factor VIII/IX | Chorionic villus sample at 11-12 weeks gestation
178
Outline management of haemophilia
``` Factor VIII / IX concentrate VIIa concentrate in inhibitor patients Desmopressin Pressure + elevation for minor bleeds Hepatitis vaccine Avoid NSAIDs and IM injections ```
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What is von Willebrand's disease?
Autosomal dominant defect on c12 which causes deficiency of vWF, resulting in reduced platelet adhesion/aggregation and reduced factor VIII
180
List clinical features of von Willebrand's disease
Bleeding after trauma/surgery Epistaxis Excessive menorrhagia Mucosal bleed
181
What investigations would you do for von Willebrand's disease?
Coagulation screen: reduced vWF, reduced factor VIII, increased APTT Genetic testing
182
Outline management of von Willebrand's disease
Desmopressin | Factor VIII concentrate
183
What effect does vitamin K deficiency have on clotting factors?
Reduced activation of factors II, VII, IX, X, protein C, protein S
184
List aetiology of vitamin K deficiency
Haemorrhage Malnutrition Malabsorption Warfarin
185
List clinical features of vitamin K deficiency
Bruising Hameaturia GI bleed Haemolytic disease of newborn
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PT time is prolonged in vitamin K deficiency. True/False?
True
187
Outline management of vitamin K deficiency
Give vitamin K! | Stop warfarin
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What is disseminated intravascular coagulation (DIC)?
Widespread activation of coagulation, causing all platelets and clotting factors to be used up
189
List aetiology/risk factors for DIC
``` Malignancy Sepsis Obstetric emergencies Liver disease Trauma ```
190
List clinical features of DIC
Bruising Bleeding Wide ecchymoses (skin discoloration) Shock
191
What investigations would you do for DIC?
Coagulation screen: reduced platelets, reduced fibrinogen, increased PT time, increased D-dimers Blood film: fragmented cells
192
Outline management of DIC
Treat cause | Transfuse platelets + FFP + red cells
193
Describe the effect of heparin on INR, APTT, PTT and bleeding
Normal/prolonged INR Prolonged APTT Prolonged PT time Normal bleeding time
194
Describe the effect of DIC on INR, APTT, PTT and bleeding
Prolonged INR Prolonged APTT Prolonged PTT Prolonged bleeding time
195
Describe the effect of liver disease on INR, APTT, PTT and bleeding
Prolonged INR Prolonged APTT Normal/prolonged PTT Normal/prolonged bleeding time
196
Describe the effect of von Willebrand's disease on INR, APTT, PTT and bleeding
Normal INR Prolonged APTT Normal PTT Prolonged bleeding time
197
Describe the effect of vitamin K deficiency on INR, APTT, PTT and bleeding
Prolonged INR Prolonged APTT Prolonged PT time Normal bleeding time
198
Describe the effect of haemophilia on INR, APTT, PTT and bleeding
Normal INR Prolonged APTT Normal PTT Normal bleeding time
199
What is a thrombus?
Solid mass formed in the circulation from the constituents of blood
200
What is an emboli?
Fragment of a thrombus that breaks off and potentially occludes circulation
201
List aetiology/risk factors for venous thromboembolism
``` Age Obesity Immobility Varicose veins Foreign long-haul travel Pregnancy High oestrogen Previous DVT/PE Thrombophilia Trauma Surgery Malignancy ```
202
List aetiology/risk factors for arterial thromboembolism
``` Obesity Smoking Organ disease Hypertension Hypercholesterolaemia ```
203
List clinical features of thromboembolic disease
``` Hot, swollen limbs Dyspnoea Pain Oedema Angina Stroke ```
204
What investigations would you do for thromboembolic disease?
``` Bloods: FBC Coagulation screen D-dimers CTPA, V/Q scan Factor assays ```
205
Outline management of venous thrombosis | N.B. note how each drug works
``` Compression stockings, mobilise Heparin (potentiates anti-thrombin) Warfarin (inhibits vitamin K) Rivaroxaban (inhibits Xa) Dabigatran (inhibits IIa) ```
206
Outline management of arterial thrombosis | N.B. note how each drug works
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
What is thrombophilia?
Inherited or acquired disorders of haemostasis that predispose to thrombosis Generally increase coagulation/decrease fibrinolysis/decrease anticoagulation
208
List the main acquired thrombophilias
Antiphospholipid syndrome | Oral contraceptive pill use
209
List the main inherited thrombophilias
``` 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
What investigations would you do for thrombophilia?
FBC Coagulation screen, factor assays Antibodies Genetic tests/counselling

4MB Medicine (19 decks)

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