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YEAR 5: Haematology AS > Haem: Haematology of Systemic Disease (Laz) > Flashcards

Haem: Haematology of Systemic Disease (Laz) Flashcards

1
Q

What may protein C deficiency lead to?

A

thrombotic tendency

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2
Q

Primary vs secondary disorder of haematology?

A

primary: inherited/ acquired disease of blood i.e. polycythaemia or thalassaemia
secondary: normal haem system reacting to non-haem condition i.e. high altitude, AIHA

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3
Q

what is FIX padua?

A

inherited condition causing excess factor IX: it is being used in gene therapy

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4
Q

give 2 examples of germline mutations affecting erthrocytes

A

B globin gene mutation causes sickle cell HbS

high affinity Hb mutation causes polycythaemia

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5
Q

What acquired mutation causes polycythaemia vera

A

JAK2

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6
Q

What mutation causes paroxysmal nocturnal haemoglobinuria?

A

PIG A - deficiency of erythrocytes

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7
Q

Factor IX deficiency can cause…

A

haemophilia B

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8
Q

List some ways in which lymphoma can cause jaundice.

A
  • Direct liver involvement
  • Compression of the bile duct
  • Causing autoimmune haemolytic anaemia
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9
Q

Which types of anaemia can be cause by cancer?

A
  • Iron deficiency
  • Anaemia of chronic disease
  • Haemolytic anaemia
  • Leucoerythroblastic anaemia
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10
Q

Which types of cancer are associated with causing secondary polycythaemia?

A
  • Renal cell carcinoma
  • Liver cancer
  • Due to the production of EPO
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11
Q

What is the most common cause of iron deficiency anaemia?

A

Occult blood loss (e.g. GI cancers, urinary tract cancers)

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12
Q

What are the typical laboratory findings of iron deficiency anaemia?

A
  • Low ferritin
  • Low transferrin saturation
  • High TIBC
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13
Q

What is leucoerythroblastic anaemia?

A

Anaemia is characterised by the presence of red and white cell precursors

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14
Q

What are the morphological features of leucoerythroblastic anaemia seen on blood film?

A
  • Tear drop red blood cells (aniso- and poikilocytosis)
  • Nucleated RBCs
  • Immature myeloid cells
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15
Q

What does leucoerythroblastic anaemia tend to be caused by?

A
  • Bone marrow infiltration (leukaemia, lymphoma, myeloma, solid tumours, myelofibrosis, military TB, severe fungal infection)
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16
Q

Define haemolytic anaemia.

A

Anaemia caused by reduced red blood cell survival

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17
Q

List some key laboratory findings in haemolytic anaemia.

A
  • Anaemia
  • Raised reticulocytes
  • Raised unconjugated bilirubin
  • Raised LDH
  • Low haptoglobins

NOTE: LDH is an intracellular enzyme that is released when RBCs are destroyed

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18
Q

What are the two main groups of haemolytic anaemia? List some examples.

A

Inherited (defects with the cell)

  • Hereditary spherocytosis (membrane problem)
  • G6PD deficiency (enzyme problem)
  • Sickle cell disease, thalassemia (haemoglobin problem)

Acquired (defects with the environment)

  • Immune-mediated
  • Non-immune mediated
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19
Q

Which test distinguishes immune-mediated and non-immune mediated haemolytic anaemia?

A

DAT or Coombs’ test

DAT +ve means that the haemolytic anaemia is mediated through immune destruction of red cells

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20
Q

What morphological change is seen on the blood film of patients with autoimmune haemolytic anaemia?

A

Spherocytes

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21
Q

List some systemic diseases that can cause autoimmune haemolytic anaemia.

A
  • Cancer involving the immune system (e.g. lymphoma)
  • Disease of the immune system (e.g. SLE)
  • Infections (mycoplasma)
  • idiopathic
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22
Q

List some causes of non-immune haemolytic anaemia.

A
  • Infection (e.g. malaria)
  • Microangiopathic haemolytic anaemia (MAHA)
23
Q

List some key features of MAHA.

A
  • Usually caused by underlying adenocarcinoma
  • Red cell fragments
  • Low platelets
  • DIC/bleeding
  • may be due to HUS
24
Q

Outline the mechanism of MAHA.

A
  • An underlying adenocarcinoma produces procoagulant cytokines that activate the coagulation cascade
  • This leads to DIC and the formation of fibrin strands in various parts of the microvasculature
  • Red cells will be pushed through these fibrin strands and fragment

NOTE: always consider underlying adenocarcinoma in any patient presenting with MAHA

25
Q

List some causes of secondary polycythaemia.

A
  • Cancer (renal, hepatocellular, bronchial)
  • High altitude
  • Hypoxic lung disease
  • Congenital cyanotic heart disease
26
Q

What is the main difference seen in the blood film of patients with acute and chronic leukaemia?

A
  • Chronic - mature white cells are raised
  • Acute - immature blast cells are raised
27
Q

List some causes of neutrophilia.

A
  • pyogenic infection
  • Corticosteroids (due to demargination)
  • Underlying neoplasia
  • Tissue inflammation (e.g. colitis, pancreatitis)
  • Myeloproliferative/leukaemia disorder
28
Q

List some infections that characteristically do not cause neutrophilia.

A
  • Brucella
  • Typhoid
  • Many viral diseases
29
Q

List some key features of a reactive neutrophilia on a blood film.

A
  • Band cells (presence of immature neutrophils (band cells) show that the bone marrow has been signalled to release more WBCs)
  • Toxic granulation
  • Clinical signs of infection/inflammation
30
Q

What are some key blood film and clinical features suggestive of a myeloproliferative disorder?

A
  • Neutrophilia
  • Basophilia
  • Immature myelocytes
  • Splenomegaly

NOTE: you may see raised Hb and raised platelets in CML if it affects those lineages

31
Q

what would you see on blood film of CML

A

neutrophils

basophils

myelocytes (in AML: myeloblasts)

32
Q

What are some key blood film features suggestive of AML?

A
  • Neutrophilia
  • Myeloblasts
33
Q

List some causes of monocytosis.

A
  • Bacteria: TB, Brucella, typhoid
  • Viral: CMV, VZV
  • Sarcoidosis
  • Chronic myelomonocytic leukaemia
34
Q

List some causes of reactive eosinophilia.

A
  • Parasitic infection
  • Allergy (e.g. asthma, rheumatoid arthritis)
  • Underlying neoplasms (e.g. Hodgkin’s lymphoma, T cell lymphoma, NHL)
  • Drug reaction (e.g. erythema multiforme)
35
Q

Which gene mutation causes chronic eosinophilic leukaemia?

A

FIP1L1-PDGFRa fusion gene

36
Q

Which type of virus typically causes basophilia?

A

Pox viruses

37
Q

What investigations are typically used when investigating lymphocytosis?

A
  • Clinical examination
  • FBC
  • Light microscopy
  • Flow cytometry (identify lineage and stage of differentiation)
  • Molecular genetics (TCR or Ig gene)
38
Q

List some causes of reactive lymphocytosis.

A
  • Infection (EBV, CMV, toxoplasmosis, rubella, HSV)
  • Autoimmune diseases (NOTE: these are more likely to cause lymphopaenia)
  • Sarcoidosis
39
Q

Causes of lymphopaenia

A

infection: HIV

autoimmune disorders

inherited immune deficiency syndromes

drugs: chemo

40
Q

How would the lymphocytes seen on a blood film due to a viral infection be different from leukaemia/lymphoma?

A
  • Viral infection: reactive or atypical lymphocytes (EBV)
  • CLL or NHL: small lymphocytes and smear cells
41
Q

What does immature lymphoid cells in peripheral blood suggest?

A

acute lymphocytic leukaemia

42
Q

Outline how flow cytometry is used to identify cell types.

A
  • Fluorescently labelled monoclonal antibodies targeted at different antigens are washed over the cells
  • Cells are passed through the flow cytometer and the fluorescence is recorded
  • Dependent on the antigens present on the cells, you can identify the stage of maturation
43
Q

What is light chain restriction?

A
  • An individual B cell will either express kappa or lambda light chains (not both)
  • In response to an infection, you will get polyclonal B cell response so there will be a roughly even mixture of kappa and lambda light chains
  • In lymphoproliferative disorders, monoclonal proliferation of a B cell expressing only one type of light chain (e.g. kappa) will mean that the proportion of kappa relative to lambda will increase (e.g. showing an overwhelming majority of kappa)
44
Q

Why do we not see acquired mutations of soluble factors like VIII or IX

A

produced by liver cells or endothelial cells, which do not have high turnover rates like blood cells

45
Q

Deficiency of factor VIII is caused by…

A

primary: haemophilia A
secondary: anti-FVIII autoantibodies - acquired haemophilia A

46
Q

Excess factor VIII antibodies are caused by…

A

inflammatory response or normal in pregnancy

47
Q

Why is thrombosis risk increased in chronic inflammation?

A

raised factor VIII levels

48
Q

Folate deficiency + Howell Jolly bodies = diagnosis?

A

coeliac disease

49
Q

Give examples of sources of blood loss which may be responsible for iron deficiency anaemia

A

GI: PU or gastric cancer, IBD or colonic cancer

Urinary tract: RCC, bladder cancer

50
Q

Give examples of sources of blood loss which may be responsible for iron deficiency anaemia

A

GI: PU or gastric cancer, IBD or colonic cancer

Urinary tract: RCC, bladder cancer

51
Q

Why so many types of blood cancer?

A

multiple lineages

multiple stages of differentiation

52
Q

How can acquired somatic mutations causing leukaemia and lymphoma be classified?

A

type 1: cellular proliferation i.e. BCR-ABL= CML, JAK2

type 2: impair/ block cellular differentiation i.e. acute PML RARA

or

prolong cell survival/ anti-apoptotic i.e. BCL2 and follicular lymphoma

53
Q

Haemato-oncology diagnosis

A
  • morphology
  • immunophenotype with flow cytometry
  • cytogenetics with FISH
  • molecular genetics for mutation
  • use biopsy

YEAR 5: Haematology AS (20 decks)

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