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Pathology by week > W5 - Haematology in systemic disease > Flashcards

W5 - Haematology in systemic disease Flashcards

1
Q

What are the differences between primary and secondary haematological disorders?

A

Primary = disease within blood/BM

Secondary = non-haematological disease elsewhere, having affect on BM/blood

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2
Q

What is the cause of primary haematological disorders?

A

mostly all due to DNA mutations which could be:

a) germline/inherited
b) somatic/acquired

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3
Q

What do these germline mutations cause?

  1. Factor IX deficiency
  2. Factor IX excess
  3. B globin chain deficiency
  4. VHL gene mutation
A
  1. Factor IX deficiency => haemophilia B
  2. Factor IX excess => F IX pauda
  3. B globin chain deficiency => B thalassaemia
  4. VHL gene mutation => excess RBC => Chuvash Polycythaemia
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4
Q

What primary haematology disorders do JAK and BCR-ABL1 somatic mutations lead to?

A
  1. JAK mutations => excess RBCs => polycythaemia vera
  2. BCR-ABL1 => excess myeloid/granulocytes => CML
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5
Q

Which secondary haematological disorders does each of the below cause?

1) cyanotic heart disease
2) anti-RBC abs
3) Anti-FVIII auto-abs

A
  1. Cyanotic heart disease => hypoxia => excess RBCs
  2. Anti-RBC abs => immune-mediated haemolysis => reduced RBCs
  3. Anti-FVIII auto-abs (acquired haemophilia A) => deficiency in FVIII
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6
Q

What are typical laboratory findings of FBC suggestive of iron deficiency?

A
  • microcytic RBCs
  • reduced ferritin
  • reduced transferrin saturation
  • raised TIBC
  • blood film: microcytic, hypochromic cells
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7
Q

Iron deficiency equates __________ until proven otherwise.

A

BLEEDING

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8
Q

2 cancerous causes of occult blood loss

A
  1. GI cancers (Gastric, colonic/rectal)
  2. Urinary tract cancers (RCC, bladder cancer)
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9
Q

Leuco-erythroblastic anaemia - 5 morphological features in blood film?

A
  • Teardrop RBCs
  • Anisocytosis (diff sizes)
  • Poikilocytosis (diff shapes)
  • Nucleated RBCs
  • Immature myeloid cells
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10
Q

Causes of Leuco-erythroblastic film?

A

BM infiltration:

  1. malignant
    - Haematopoietic: leukaemia/lymphoma/myeloma
    - Non-haematopoietic: metastatic breast/bronchus/prostate
  2. Myelofibrosis:
    - Massive splenomegaly
    - Dry tap on BM aspirate
  3. Severe infection (rare):
    - miliary TB
    - Severe fungal infection
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11
Q

Common laboratory findings (5) of all haemolytic anaemias?

A
  • anaemia
  • reticulocytosis
  • unconjugated bilirubin raised
  • LDH raised
  • haptoglobins reduced
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12
Q

Haemolytic anaemias can be _____ or _____

A

Inherited (primary)
Acquired (secondary)

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13
Q

Name 3 groups of inherited haemolytic anaemias

A
  1. Membrane - i.e., hereditary spherocytosis
  2. Cytoplasm/enzymes - i.e., G6PD deficiency
  3. Haemoglobin - i.e., Sickle cell disease, thalassaemia
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14
Q

Name acquired (2) haemolytic anaemias

A
  1. Non-immune (DAT -ve)
  2. Immune mediated (DAT aka Coombs test +ve)
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15
Q

What laboratory findings confirm immune-mediated haemolytic anaemia?

A
  • Spherocytes
  • RBC fragments
  • DAT/Coombs test POSITIVE
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16
Q

What conditions (6ish) are associated with immune-mediated haemolytic anaemia?

A

Systemic diseases:

  • malignancy: lymphoma, CLL
  • autoimmune: SLE
  • infection: mycoplasma
  • idiopathic
17
Q

What conditions (2) is non-immune mediated haemolytic anaemia associated with?

A
  1. Infection:
    - malaria
  2. Micro-angiopathic haemolytic anaemia (MAHA):
    - Underlying adenocarcinoma
    - HUS (haemolytic uraemic syndrome)
18
Q

What are the blood film features of MAHA?

A
  • RBC fragments (haemolysis)
  • Thrombocytopaenia
19
Q

Describe pathophysiology behind micro-angiopathy due to malignancy

A

Causes low grade DIC

  1. Platelet activation
  2. Fibrin deposition + degradation
  3. RBC fragmentation (microangiopathy)
  4. Bleeding (due to low platelets + coagulation factor deficiency)
20
Q

Female 39, lymphoma stage 4 involving LNs, BM, liver.
Recent onset jaundice, hepatomegaly, 1 week history of SOB
- bloods:
Hb 87 g/L
MCV 102 fl
reticulocyte 190x10^ 9/L (20-92)
bilirubin 50 micromol/L
blood film: anaemia, spherocytes

The likely explanation for this anaemia is:

  • iron deficiency
  • anaemia of chronic disease
  • leuco-erythroblastic anaemia
  • MAHA
  • autoimmune-haemolytic anaemia
A
  • autoimmune-haemolytic anaemia

spherocytes => haemolysis => not congenital, therefore inherited autoimmune

21
Q

Female 39 treated breast cancer 4 years previously
Recent onset jaundice, hepatomegaly
- bloods:
Hb 87 g/L
reticulocytes 15x10^9/L (20-92)
bilirubin 50 micromol/L conjugated
DAT -

The likely explanation for this anaemia is:

  • iron deficiency
  • anaemia of chronic disease
  • leuco-erythroblastic anaemia
  • MAHA
  • autoimmune-haemolytic anaemia
A

The reticulocyte is DOWN – so this is infiltration of the BM and its not making enough RBC = leuco-erythroblastic anaemia

22
Q

What are the two main categories of eosinophilia?

A
  1. Reactive eosinophilia
  2. Chronic eosinophilic leukaemia
23
Q

What are the causes (4) of reactive eosinophilia?

A
  • parasitic infections
  • allergic diseases, i.e. asthma, RA, polyarteritis, pulmonary eosinophilia
  • underlying neoplasm, i.e. Hodgkin’s, T cell NHL
  • Drugs, i.e. reaction erythema multiforme
24
Q

Name underlying causes (4) of monocytosis

A
  • Bacterial: TB, brucella typhoid
  • Viral: CMV, varicella zoster
  • Sarcoidosis
  • Chronic myelomonocytic leukaemia (MDS)
25
Q

In lymphocytosis, what do mature lymphocytes in the peripheral blood film indicate the cause is?

A
  1. Reactive/atypical lymphocytosis
  2. if small lymphocytes + smear cells => CHRONIC LYMPHOID LEUKAEMIA (CLL) or Non-Hogkin’s lymphoma (NHL)
26
Q

In lymphocytosis, what do immature lymphocytes in the peripheral blood film indicate the cause is?

A

Lymphoblasts => Acute lymphoblastic leukaemia (ALL)

27
Q

In B Cell lymphocytosis, determine the importance of clonality (light chain test)

A

Polyclonal: kappa to lambda 60:40 ratio = REACTIVE lymphocytosis

Monoclonal: kappa or lambda ONLY (99:1 ratio) = lymphoid malignancy

28
Q

Describe what the cells look like in chronic myeloproliferative neoplasm

A

Increased proliferation with normal differentiation = lots of mature myeloid cells

29
Q

Describe the blood cell pathology in acute myeloid leukaemia (AML)

A

Increased proliferation with blocked differentiation = lots of immature precursor cells

30
Q

Describe the 3 possible cell development issues arising from acquired somatic mutations that cause leukaemias/lymphomas

A
  1. Excess proliferation
  2. Impaired/blocked differentiation
  3. Prolonged cell survival (anti-apoptosis)
31
Q

Cancer of B cell precursor is ________
Cancer of mantle zone B cell is ________
Cancer of plasma cell is __________

A
  1. B cell Acute lymphoblastic lymphoma
  2. Mantle cell lymphoma
  3. Multiple myeloma
32
Q

Philadelphia chromosome is associated with ______

A

CML

33
Q

Describe the immunophenotype of B cell ALL vs MM

A

B cell ALL:

  • TdT +
  • CD19 +
  • surface Ig –

MM:

  • TdT –
  • CD138 +
  • surface Ig +
34
Q

What are the associated symptoms of lympho-haemopoietic failure –>

  1. BM failure?
  2. Immune system failure?
A

BM => anaemia, infections (neutrophils), bleeding (platelets)

Immune system => recurrent infections

35
Q

What is one major complication of polycythemia?

A

Increased RBCs => increased viscosity => impaired blood flow => stroke or TIA

36
Q

What is one major complication of lymphomas?

A

Massively enlarged LNs => compress structures, bowels, vena cava, ureters, bronchus

37
Q

Describe some haematological tests for
A) morphology
B) immunophenotype
C) cytogenetics
D) molecular genetics

A

A) morphology => blood film, cytology, cytochemistry

B) immunophenotype => flow cytometry, immunohistochemistry

C) cytogenetics => conventional karyotyping, fluorescent in-situ hybridisation (interphase FISH, metaphase FISH)

D) molecular genetics => PCR, mutation detection (direct sequencing), gene expression profiling, whole genome sequencing

Pathology by week (70 decks)

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