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haematology Flashcards

1
Q

what is ALL?

A

acute lymphoblastic leukaemia
This is the malignant proliferation of immature lymphoblasts. It the commonest cause of death in childhood. An arrest in maturation promotes uncontrolled proliferation of immature blast cells, with marrow failure and tissue infiltration.

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2
Q

how does ALL present?

A
  • anaemia
  • infection
  • bleeding
  • hepatosplenomegaly due to infiltration
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3
Q

how is ALL treated?

A
  • CNS direct therapy

- stem cell transplant

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4
Q

what is AML?

A

AML is the neoplastic proliferation of blast cells derived from marrow myeloid elements. The incidence of AML increases with age and there must be at least 20% blast cells present in the bone marrow for diagnosis.

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5
Q

How is AML diagnosed?

A

bone marrow biopsy- must be at least 20% blast cells for diagnosis

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6
Q

how is AML treated?

A
  • Chemotherapy
  • Supportive measures
  • Intensive vs non-intensive approach
  • Bone marrow transplant
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7
Q

what can cause microcytic anaemia?

A

iron-deficiency, anaemia of chronic disease and thalassaemia

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8
Q

what can cause normocytic anaemia?

A

acute blood loss, anaemia of chronic disease and bone marrow failure

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9
Q

what can cause macrocytic anaemia?

A

folate deficiency, alcohol excess, hypothyroidism

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10
Q

what can cause iron-deficiency anaemia?

A
  • Blood loos- menorrhagia or GI bleeding
  • Poor diet
  • Malabsorption- coeliac disease
  • Hookworm- very common
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11
Q

how does iron-deficiency anaemia present clinically?

A
  • Can be asymptomatic
  • Tiredness, breathless on exertion
  • Koilonychia, angular chelitis and glossitis
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12
Q

on a blood film what will iron-deficient RBC appear as?

A

microcytic hypochromic

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13
Q

what can cause anaemia of chronic disease?

A

Chronic infection, vasculitis, rheumatoid arthritis, malignancy, renal failure

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14
Q

how do the RBC’s appear in anaemia of chronic disease?

A

normocytic normochromic

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15
Q

what is sideroblastic anaemia?

A

acquired or inherited disorder in which the body has enough iron but cannot incorporate it into Hb

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16
Q

what is pernicious anaemia?

A

lack of parietal and chief cells results in absent intrinsic factor secretion- so less B12 can be absorbed

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17
Q

what can cause pernicious anaemia?

A
  • Autoimmune atrophic gastritis, leading to achlorhydria and lack of gastric IF- B12 malabsorption
  • Associated with vitiligo, addisons, hypoparathyroidism, thyroid disease
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18
Q

what can cause folate deficiency?

A
  • Poor diet
  • Increased demand- pregnancy/ increased cell turnover
  • Malabsorption- coeliac disease
  • Alcohol, drugs excess
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19
Q

why do megaloblasts form in a patient with folate deficiency?

A

B12 and folate are required for DNA synthesis- in the absence of these cells can’t divide

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20
Q

what is haemolytic anaemia?

A

anaemia caused by the destruction of RBC before their normal life span

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21
Q

what can cause haemolytic anaemia?

A
  • hereditary- G6PD deficiency, pyruvate kinase deficiency
  • membrane defects- spherocytosis, elliptocytosis
  • haemoglobinopathies- sickle cell disease, thalassaemia
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22
Q

what is aplastic anaemia?

A

pancytopenia with hypo plastic marrow

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23
Q

what is pancytopenia?

A

reduced numbers of all major cell lines

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24
Q

what can cause DIC?

A

DIC= disseminated intravascular coagulation
-Massive action of clotting cascade
-Major initiating factors- release/ expression of tissue factor, or enhanced expression of tissue factor by monocytes
Sepsis
-Major trauma/ tissue destruction- surgery, burns
-Advanced cancer
-Obstetric complications
-Acute promyelocytic leukaemia

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25
clinically how does sickle cell anaemia present?
``` vaso-occlusive crisis pulmonary hypertension acute chest syndrome splenic sequestration bone marrow aplasia ```
26
how is sickle cell anaemia treated?
hydroxycarbamide | prophylatic antibiotics
27
what is beta-thalassaemia?
a genetic disease of unbalanced haemoglobin synthesis- underproduction of one globin chain
28
what is beta thalassaemia classified into?
minor, intermedia or major
29
what is alpha thalassaemia?
caused by gene deletions (rather than point mutations, as in -thalassaemia) Gene for -globin chains is duplicated on both chromosomes 16
30
what is G6PD deficiency?
x-linked haemolytic condition caused by a mutation in the G6PD gene
31
what is polycythaemia?
defined as an increase in Hb, PCV or RCC
32
What are the causes of polycythaemia?
- primary= polycythaemia rubra vera | - secondary= hypoxia- high altitudes, chronic lung disease, cyanotic heart disease, heavy smoking
33
how do patients with polycythaemia present?
headache, dizziness, tinnitus, intermittent claudication and visual disturbances- symptoms are a result of hypervolaemia and hyperviscosity
34
what are the risk factors for a DVT?
* Increasing age (>60yo) * Pregnancy * Synthetic oestrogen (contraception, HRT etc) * Trauma * Surgery (esp pelvic/orthopaedic) * Past DVT * Cancer * Obesity * Immobility – bed ridden, long haul flights! * Thrombophilia
35
how would a patient with a DVT present?
warmth, tenderness, swelling and erythema around the area (usually the calf)
36
what is the key differential diagnosis of DVT?
cellulitis
37
how can DVT be diagnosed?
- d-dimer- not specific for DVT- i.e. a negative value excludes DVT but a positive one does not diagnose - ultrasound or a doppler US
38
what is immune thrombocytopenic purpura?
low platelet count due to immune destruction of platelets
39
what is purpura?
rash of purple spots on the skin caused by internal bleeding from small vessels
40
what is thrombotic thrombocytopenic purpura?
widespread adhesion and aggregation of platelets leads to microvascular thrombosis and profound thrombocytopenia
41
what can cause TTP?
deficiency of ADAMTS13
42
What is haemophilia A?
an x-linked recessive disease resulting in factor VIII deficiency
43
what is haemophilia B?
factor IX deficiency
44
what 3 roles does vWF have in clotting?
1) To bring platelets into contact with exposed subendothelium 2) To make platelets bind to each other 3) To bind factor VIII, protecting it from destruction in the circulation
45
what can cause vitamin k deficiency?
malnutrition, malabsorption and warfarin treatment
46
what is CML?
uncontrolled clonal proliferation of myeloid cells
47
what chromosome is present in CML?
Philadelphia chromosome
48
how does CML present clinically?
``` weight loss tiredness sweats fever gout bleeding splenomegaly ```
49
how would you treat CML?
imatinib or a stem cell transplant
50
what is CLL?
accumulation of mature B cells that have escaped programmed cell death
51
how does a patient with CLL present?
infections weight loss hepatosplenomegaly enlarged nodes
52
how is CLL treated?
fludarabine, cyclophosphamide and rituximab radiotherapy stem cell transplant
53
what cells are characteristic of Hodgkins Lymphoma?
Reed-Sternberg cells
54
how does Hodgkins lymphoma present clinically?
enlarged painless lymph nodes hepatosplenomegaly systemic B symptoms- fever, weight loss, night sweats
55
what is the differential diagnosis of Hodgkins lymphoma?
Includes any other cause of lymphadenopathy oInfections oSecondary carcinoma oLeukaemia oSystemic diseases e.g. SLE, rheumatoid arthritis, sarcoidosis
56
how is Hodgkins lymphoma staged?
I – confined to single lymph node region II – involvement of 2+ nodal areas on same side of diaphragm III – involvement of nodes on both sides of diaphragm IV – spread beyond the lymph nodes, e.g. liver or bone marrow Each stage is A or B- A= no systemic symptoms, B= presence of B symptoms
57
how is Hodgkins lymphoma treated?
chemotherapy | ABVD- adriomycin, bleomycin, vinblastine and dacarbazine
58
what is non-hodgkins lymphoma?
lymphoma without the presence of Reed Sternberg cells
59
what can cause NH lymphoma?
``` Immunodeficiency – drugs; HIV HLTV-1 H pylori Toxins Congenital ```
60
how is NH lymphoma graded?
Low grade lymphomas = indolent, often incurable and widely disseminated High-grade lymphomas = more aggressive, but often curable
61
what is myeloma?
Malignant clonal expansion of plasma cells these plasma cells produce monoclonal immunoglobulins- excessive amounts of one type of Ig can cause dysfunction of many organs
62
how does myeloma present clinically?
bone destruction- resulting in bone pain, spinal cord compression bone marrow infiltration- anaemia, infection and bleeding bacterial infections renal impairment due to light chain deposition
63
how does myeloma present on a blood film?
rouleax formation
64
what chemotherapy plan is used in myeloma?
melphalan and prednisolone
65
in which condition would you see bite and blister cells on a blood film?
G6PD deficiency
66
what is the single amino acid change seen in sickle cell anaemia?
glutamine for valine
67
what condition has a JAK 2 mutation?
polycythaemia rubra vera

nicks phase 2a flaschards (15 decks)

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