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Year 3 diagnosis and management > Haematology > Flashcards

Haematology Flashcards

1
Q

What happens in antiphospholipid syndrome?

A

APL antibodies against plasma proteins bound to phospholipids

Second event needed for syndrome to develop

Complement activation by APL

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2
Q

Symptoms and signs of antiphospholipid syndrome?

A

Recurrent miscarriages
Arterial and venous thrombosis

Livedo reticularis - mottled reticulated vascular pattern

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3
Q

Investigations for antiphospholipid syndrome?

A
  • Anticardiolipin antibodies - ELISA
  • Lupus anticoagulant assay

• Bloods - low platelets, high APTT

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4
Q

What does aplastic anaemia involve?

A

Diminished haematopoietic precursors in bone marrow

Deficiency of all blood cell elements (pancytopaenia)

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5
Q

Onset of aplastic anaemia?

A

Rapid-onset (days) or slow-onset (months)

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6
Q

Investigations for aplastic anaemia?

A
  • Bloods - pancytopaenia, normal MCV, ABSENT RETICULOCYTES
  • Bone Marrow Trephine biopsy - HYPOCELLULAR (not abnormal)

• Check chromosomal breakage in lymphocytes for Fanconi’s anaemia

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7
Q

What are the 2 forms of disseminated intravascular coagulation?

A

Acute overt form - bleeding/endothelial damage => explosive thrombin generation - depletion of platelets + clotting factors

Chronic non-overt form - same, but time for compensatory mechanisms => hypercoagulable states and thrombosis

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8
Q

In whom does DIC usually occur?

A
  • Gram-negative sepsis
  • Obstetric - missed micarriage, pre-eclampsia etc.
  • Malignancy
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9
Q

Signs of acute and chronic DIC?

A

Acute
• Petechiae, purpura
• Epistaxis
• Oliguria - renal failure

Chronic
• Deep vein and arterial thrombosis or embolism
• Superficial venous thrombosis

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10
Q

Investigations for DIC?

A
  • Bloods - low platelets, low Hb, high APTT, LOW FIBRINOGEN, high D-dimer
  • Peripheral blood film - schistocyctes
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11
Q

What is haemolytic anaemia?

A

Shortened erythrocyte life span - premature breakdown (< 120 days)

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12
Q

Most common inherited haemolytic anaemia in northern europe?

A

Hereditary spherocytosis

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13
Q

Presentation of haemolytic anaemia (4)

A
  • Jaundice
  • Anaemia
  • Haematuria
  • Hepatosplenomegaly
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14
Q

Investigations for haemolytic anaemia?

• Including what Direct Coomb’s test, osmotic fragility, Ham’s test is?

A
  • FBC - high reticulocytes, high MCV, low haptoglobin
  • Blood film - many abnormal cells
  • Urine - high urobilinogen, haemosiderin
  • Direct Coombs’ test - autoimmune
  • Osmotic fragility/spectrin mutation - membrane abnormalities
  • Ham’s test - lysis in paroxysmal nocturnal haemoglobinuria
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15
Q

Which 2 disorders have similar characterisations of haemolysis and thrombocytopaenia?

A

Haemolytic uraemic syndrome and Thrombotic Thrombocytopaenic purpura

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16
Q

What do HUS and TTP have in common and difference?

A

In common: triad
• Microangiopathic haemolytic anaemia (MAHA)
• Acute renal failure
• Thrombocytopaenia

TTP also has:
• Fever
• Fluctuating CNS signs

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17
Q

What are the 2 forms of HUS?

A

D- = no prodromal illness

D+ = diarrhoea-associated form

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18
Q

Outline cause of HUS?

A
  • Endothelial injury
  • Small vessel thrombosis
  • Fibrinoid necrosis in glomerular-afferent arteriole (vulnerable)
  • Renal ischaemia and acute renal failure
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19
Q

Infective cause of HUS?

A

E. coli

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20
Q

Who does D+ HUS and TTP mainly affect?

A

D+ HUS - young children

TTP - adult females

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21
Q

Outline cause of TTP?

A
  • Multimers of vWF clumping

* Deficiency of metalloprotease (ADAMST13) which normally cleaves this

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22
Q

What is immune thrombocytic purpura (ITP)?

A

Syndrome characterised by immune destruction of platelets

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23
Q

2 types of ITP and when are they seen?

A
  • Acute - after viral infections in children

* Chronic - female adults

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24
Q

Why should you do a blood film in ITP?

A

Excluse pseudothrombocytopaenia - platelets clumping together to give falsely low counts

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25
Q

Cause of haemophilia and the 3 types?

A

Inherited deficiency of clotting factor

A - most common, factor 8
B - factor 9
C - rare, factor 11

A+B X-linked recessive so mainly seen in males, C common in Ashkenazi Jews

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26
Q

Features of haemophilia?

A

Generally deep bleeds
• Haemarthroses
• Muscle haematomas
• Female carriers may be asymptomatic (X-linked recessive), but may bleed lots after trauma

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27
Q

Investigations for haemophilia?

A
  • High APTT

* Coagulation factor assays

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28
Q

Difference between ALL, AML, CLL, CML

A

ALL - proliferation of lymphoblasts (early lymphocytes)

AML - proliferation of myeloblasts (early innate cells)

CLL - proliferation of well-differentiated lymphocytes (almost always B cells)

CML - proliferation of granulocutes at different stages of differentiation (neutrophils, eosinophils, basophils) in bone marrow and blood
(Philadelphia chromosome)

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29
Q

Which cancer does CLL overlap with?

A

Non-hodgkin’s lymphoma

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30
Q

Who gets ALL, AML, CLL, CML?

A

ALL - young children (second peak in elderly)

AML - most common acute leukaemia in adults, increases with age

CLL - > 50 yrs, males

CML - increases with age, males

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31
Q

Presentation of ALL, AML, CLL, CML?

A

ALL - anaemia, neutropaenia, thrombocytopaenia, bone pain, hepatosplenomegaly, testicular swelling

AML - anaemia, neutropaenia, thrombocytopaenia, bone pain, hepatosplenomegaly, gum hypertrophy

CLL - bleeding, infections, lymphadenopathy (autoimmune anaemia is a complication)

CML - splenomegaly, anaemia, sweating

32
Q

Investigations for ALL, AML, CLL, CML?

A

ALL
• FBC - normochromic normocytic anaemia, high WCC
• Blood film - abdundant lymphoblasts
• Bone marrow aspirate - hypercellular

AML
• FBC - variable WCC
• Blood film - abdudant myeloblasts, Auer rods
• Bone marrow aspirate - hypercellular

CLL
• FBC - high lymphocytes, later autoimmune haemolysis
• Blood film - smudge/smear cells
• Bone marrow aspirate - lymphocytic replacement of normal marrow

CML
• FBC - high WCC, high myeloid cells
• Blood film - numerous granulocytic cells at different stages of differentiation
• Bone marrow aspirate - hypercellular

33
Q

What is lymphoma and what is the difference between Hodgkin’s and Non-Hodgkin’s lymphoma?

A

Lymphoma - proliferation of lymphocytes in lymph nodes

Hodgkin’s - histopathological presence of Reed-Sternberg cells (binucleate lymphocytes - usually B)

Non-Hodgkin’s - diverse group, mostly diffuse large B-cell lymphoma

34
Q

Cause and incidence of H and N-H lymphoma?

A

H - unknown cause (EBV genome?), peak in 20s and over 50, males

N-H - immunodeficiency, introduction of foreign genes by oncogenic viruses e.g. EBV,

35
Q

Presentation of H and N-H lymphoma?

A 
H
• Enlarged, non-tender, rubbery superficial lymph nodes
• Painful after alcohol
• Continuous spread
• Node size fluctuates
• Hepatosplenomegaly
• Pel-Ebstein fever (cyclical)

N-H
• Enlarged, non-tender, rubbery superficial lymph nodes
• Non-continuous spread
• Mass on jaw (Burkitt’s)
• Extranodal disease (1) Gastric (2) skin e.g. mycosis fungoides

36
Q

Diagnostic, staging and prognostic investigations for lymphoma?

A
  • Diagnostic - excisional node biopsy
  • Staging - CT chest, abdo, pelvis, Ann-Arbor system
  • Prognostic - ESR, LDH (cell turnover)
37
Q

What is multiple myeloma?

A

Malignancy characterised by proliferation of plasma cells
• Characterised by bone lesions
• Production of monoclonal immunoglobulins (usually IgG or IgA) causing dysfunction in many organs

38
Q

Who is usally affected by multiple myeloma?

A
  • 70yrs

* Afro-Caribbean > White > Asians

39
Q

Presentation of multiple myeloma?

A 
CRABBI
• Calcium- hypercalcaemia
• Renal damage - dehydration
• Anaemia
• Bleeding - thrombocytopaenia
• Bone pain (especially back) - infiltration and increased osteoclast activity, lytic lesions and increased risk of fragility fractures
• Infection
40
Q

Investigation for multiple myeloma?

A
  • Bloods - normochromic normocytic anaemia and thrombocytopaenia, raised urea and creatinine, raised calcium
  • Blood film - rouleaux formation with bluish background (high protein)
  • BENCE-JONES PROTEIN in urine
  • Bone marrow aspiration and trephine biopsy - diagnostic
41
Q

Most common form of anaemia worldwide?

A

Iron deficiency anaemia

42
Q

Causes of microcytic, normocytic and macrocytic anaemia?

A 
Microcytic
• Iron deficiency
• ACD
• Thalassaemia
• Sideroblastic anaemia (haem synthesis abnormality)
• Lead poisoning
Normocytic
• Decreased production (ACD, aplastic)
• Sickle cell
• Haemolysis
• Uncompensated increase in plasma volume e.g. pregnancy
• Vitamin B2 and 6 deficiency
Macrocytic
Megaloblastic:
• Vitamin B12 or folate deficiency (problem with DNA synthesis)
• Drugs
Non-megaloblastic:
• Alcohol excess
• Liver disease
• Multiple myeloma
• Hypothyroidism
• Haemolysis - left shift
43
Q

Investigations for microcytic and macrocytic (megaloblastic) anaemia?

A 
Microcytic
• Anisocytosis
• Poikilocytosis
• Lead - basophilic stippling
• Hb electrophoresis for thalassaemia

Macrocytic megaloblastic
• Pancytopaenia
• Hypersegmented neutrophil nuclei

44
Q

What is myelodysplasia?

A

Series of haematological conditions characterised by chronic cytopaenia:
• anaemia
• neutropaenia
• thrombocytopaenia

and abnormal cellular maturation

45
Q

Cause of myelodysplasia? (3)

A
  • Primary - intrinsic bone marrow problem
  • Chemotherapy or radiotherapy
  • Chromosomal abnormalities
46
Q

Signs of myelodysplasia?

A
  • Cytopaenia
  • Gum hypertrophy
  • Lymphadenopathy
  • NO splenomegaly (except CML)
47
Q

What can myelodysplasia progress to?

A

AML

48
Q

What is myelofibrosis?

A
  • Progressive bone marrow fibrosis

* Extramedullary haematopoiesis and splenomegaly

49
Q

What happens in myelofibrosis?

A
  • Increased number of abnormal megakaryocytes
  • Stromal proliferation
  • Release cytokines that stimulate fibroblast proliferation and collagen deposition in bone marrow
50
Q

What do 30% of patients with myelofibrosis have a history of?

A

Polycythaemia rubra vera or essential thrombocythaemia (overproduction of platelets by bone marrow)

51
Q

What is seen on blood film, bone marrow aspirate and biopsy of myelofibrosis?

A
  • Blood film - poikilocyte ‘tear drop’ red cells
  • Bone marrow aspirate - usually unsuccessful due to fibrosis
  • Biopsy - fibrotic hypercellular marrow, with dense reticulin fibres on silver staining
52
Q

What is polycythaemia and what 2 groups can it be classified into?

A

Increase in [Hb] above normal for person’s age and sex
• Absolute (true) : rubra vera or secondary - increased red cell mass
• Relative - normal red cell mass, low plasma volume

53
Q

What causes polycythaemia rubra vera?

A

Clonal proliferation of myeloid cells - mutations in JAK2 tyrosine kinase involved

54
Q

What causes secondary polycythaemia?

A

Appropriate increase in erythropoietin
• Chronic hypoxia

Inappropriate increase in erythropoietin
• Renal
• Hepatocellular carcinoma
• Erythropoietin abuse by athletes

55
Q

What can cause relative polycythaemia?

A
  • Dehydration

* Gaisbock’s syndrome - young male smokers with HTN

56
Q

Symptoms and signs of polycythaemia?

A
  • Pruritis after hot bath
  • Headaches
  • Gout
  • DVT, stroke, dizziness
  • Choreiform movements
  • Splenomegaly
  • Scratch marks from itching
  • Plethoric complextion (red, ruddy)
  • Conjunctival suffusion (redness)
57
Q

Investigations for polycythaemia (including rubra vera vs secondary)?

A

Needed for diagnosis
• FBC - high Hb, high Hct, low MCV

Isotope dilution techniques
• Confirmation of plasma volume and red cell mass (absolute vs relative)

Rubra vera
• Low serum EPO
• JAK2 mutation
• Biopsy - erythroid hyperplasia and raised megakaryocytes

Secondary
• High serum EPO

58
Q

Sickle cell disease is a chronic condition with sickling of red blood cells caused by inheritance of…

A

haemoglobin S

59
Q

What is the difference between sickle cell anaemia, trait and disease in terms of genes?

A
  • Anaemia - homozygous HbS
  • Trait - carriers (heterozygous) HbS
  • Disease - heterozygous for HbS and HbC/beta-thalassaemia
60
Q

How does the abnormal formation of haemoglobin S occur?

A

Autosomal recessive

Point mutation in beta-globin gene - substitution of glutamic acid by valine in position 6

(deoxygenation of HbS causes sickling)

61
Q

What 4 factors precipitate sickling?

A
  • Infection
  • Dehydration
  • Hypoxia
  • Acidosis
62
Q

Symptoms of sickle cell?

A

Symptoms secondary to vaso-occlusion
• Splenic atrophy or infarction (autosplenectomy) - increased risk of infection with encapsulated organisms
• Abdo pain
• Dactylitis in children, painful ribs/spine/pelvis/long bones in adults
• Proliferative retinopathy
• Breathlessness
• Painful erection (priapism)

63
Q

Signs of sickle cell?

A
  • Joint or muscle tenderness due to avascular necrosis
  • Short digits due to infarction in small bones
  • Cotton wool spots
  • Splenomegaly
  • Anaemia signs
64
Q

Investigations for sickle cell?

A
  • Bloods - low Hb, high reticulocytes (haemolytic crises), low reticulocytes (aplastic crises)
  • Blood film - sickle cells, target cells, Howell-Jolly bodies
  • Sickle solubility test - increased turbidity (doesn’t distinguish between AS and SS)
  • DIAGNOSTIC - ELECTROPHORESIS (confirms HbSS)
65
Q

What is an aplastic and sequestration crisis?

A

Aplastic crisis - sudden reduction in marrow production due to parvovirus B19

Sequestration crisis - pooling of blood in spleen (and liver, lungs, corpora cavernosa). Mainly affects children as spleen becomes atrophic in adults.

66
Q

Crisis management of sickle cell?

A
  • Analgesia (IV opiates)
  • Rehydrate
  • Oxygen
  • Antibiotics if infection
  • Blood transfusion
67
Q

Long-term sickle cell management?

A
  • Hydroxyurea - increases HbF, prevents painful episodes
  • Pneumococcal polysaccharide vaccine every 5 years

(folic acid, repeated red cell transfusions, advice, bone marrow transplant)

68
Q

What happens in thalassaemia?

A
  • Underproduction or no production of one globin chain

* Unmatched globins precipitate, damaging RBC membranes - haemolysis in bone marrow

69
Q

Outline the 3 types of beta thalassaemia

A
  • Trait/minor - heterozygous
  • Intermedia - mild homozygous, or heterozygous with another haemoglobinopathy e.g. HbC
  • Major - homozygous, little or no beta-chain synthesis
70
Q

Presentation of 3 types of beta thalassaemia?

A
  • Trait/minor - asymptomatic, may be mild anaemia, may worsen in pregnancy
  • Intermedia - moderate anaemia, may be splenomegaly
  • Major - presents within first year, mild jaundice, frontal bossing, ‘hair on end’ sign on skull x-ray due to increased marrow activity
71
Q

Investigations for thalassaemia?

A
  • FBC - microcytic anaemia
  • Blood film - hypochromic, target cells, nucleated red cells, high reticulocytes
  • Hb electrophoresis - absent or reduced HbA, high HbF
  • Bone marrow - hypercellular
  • Skull X-ray - hair on end in major
72
Q

What is the main characterisation of von Willebrand disease?

A

Mucocutaenous bleeding (mouth, epistaxis, menorrhagia)

73
Q

Outline the 3 types of vWD

A

Type 1 - not enough vWF (but it works well)

Type 2 - abnormal vWF (but there is enough)

Type 3 - no vWF

74
Q

Investigations for vWD?

A
  • Prolonged bleeding time but platelets are normal
  • Prolonged APTT
  • Reduced Factor VIII
  • Defective platelet aggregation with ristocetin
75
Q

Difference between warm and cold autoimmune haemolytic anaemia?

A

Warm
• IgG
• Extravascular haemolysis
• Can be caused by drugs

Cold
• IgM
• Intravascular haemolysis
• Mediated by complement
• Can be caused by infections

Year 3 diagnosis and management (9 decks)

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