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RCPCH TAS/ AKP > Haematology / Oncology > Flashcards

Haematology / Oncology Flashcards

1
Q

Vit K dependent clotting factors

A

II
VII
IX
X

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2
Q

Presentation of ALL

A
  • Bone pain at night
  • Weight loss, fever
  • Recurrent sore throat
  • Petechial rash
  • Pancytopenia
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3
Q

Complication of chronic transfusions

A

Iron overload - no mechanism for excretion of excess iron

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4
Q

Causes of microcytic anaemia

A

Iron deficiency
Thalassaemia
Anaemia of chronic disease

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5
Q

Causes of normocytic anaemia

A

Bleeding
Haemolysis
BM failure
Anaemia of chronic disease
Renal failure - reduced EPO
Transient erythroblastopenia of childhood

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6
Q

Causes of macrocytic anaemia

A

B12/ folate deficiency
Diamond-Blackfan
Liver disease
Hypothyroid

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7
Q

Blood results in iron deficiency anaemia

A

Low Iron / ferritin
High Transferrin
Hypochromic, microcytic anaemia

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8
Q

Causes of red cell aplasia

A

LOW RETICULOCYTES
- Diamond Blackfan anaemia
- Transient erythroblastopenia of childhood around 2y, triggered by infection.
- Parvovirus B19 induced aplastic anaemia (esp if already have haemolysis)

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9
Q

Genetics and features of Diamond-Blackfan Anaemia

A

Dominant. Mutation RP519.
- Macrocytic anaemia as young infant
- Low reticulocytes
- 50% physical abnormalities - craniofacies, cleft, thumb abnormalities, growth restriction
- BM - low erythroid precursors. Other cell lines normal.
- High HbF and eADA
- Tx: steroids, RBC Tx, HSCT

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10
Q

Acquired causes of haemolysis

A
  • AI - idiopathic, SLE, JIA
  • Microangiopathic - HUS
  • Infection - malaria, sepsis
  • Hypersplenism
  • Burns
  • Poisoning - lead, arsenic
  • Allo-immune - haemolytic disease of the newborn
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11
Q

What does positive Direct Coomb’s Test mean?

A

Immune mediated haemolytic anaemia

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12
Q

Features of G6PD deficiency

A

X-linked recessive. More African, Asian, Mediterranean.
Eps of haemolysis triggered by oxidising agent eg broad bean, moth ball, co-trimoxazole, nitrofurantoin
Ix - G6PD enzyme assay, ‘bite cells’

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13
Q

Features of hereditary spherocytosis

A

Dominant. Defect spectrin. More caucasian.
Defective spherical RBC –> destroyed –> gallstones, splenomegaly, jaundice
Ix: Film = spherocytes
Tx: folic acid. Splenectomy >5y following vaccines

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14
Q

Features of AI haemolytic anaemia

A

50% idiopathic. Other causes: lymphoma, leukaemia, SLE, UC, mycoplasma
Destruction of RBC due to auto-Ab
Warm / cold - temp at which Ab reacts
Tx: Steroids, immunosuppression, remove cause

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15
Q

Features of pyruvate kinase deficiency

A

Recessive. Rare.
Rigid cells –> haemolysis
Film - prickle cells
Pyruvate kinase assay
Tx - splenectomy

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16
Q

Features of alpha thalassaemia

A

Alpha globin deletion Ch 16. Deletion 3 copies = HbH disease, 4 copies –> hydrops / death
Presents: Microcytic hypochromic anaemia, splenomegaly, jaundice
Ix: Film with brilliant cresyl blue stain / liquid chromatography

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17
Q

Features of beta thalassaemia

A

Trait - 1 copy affected, Major - both copies affected.
Presents 12-18m. Severe anaemia, frontal bossing / maxillary swelling, hepatosplenomegaly
Ix: Microcytic hypochromic anaemia, target cells, nucleated RBC
Tx: Tx + desferrioxamine, ?splenectomy, BM transplant

18
Q

Genetics of sickle cell disease

A

Point mutation of beta-globin gene
Recessive. More African, Caribbean, Middle East, India
- Sickle cell anaemia - Homozygous mutation (HbSS)
- HbSC disease - Single beta cell mutation, HbC mutation
- S Beta thalasseamia - Beta globin and beta thalassaemia mutations

19
Q

Features of sickle cell associated with increased risk of painful crisis

A

High haematocrit
Low levels of HbF

20
Q

Presentations of sickle cell diseases

A

Chronic haemolytic anaemia and sickle cell crisis:
- Painful veno-occlusive eps eg dactylitis
- Sickle chest crisis
- Splenic / hepatic sequestration
- Aplastic crisis secondary to Parvovirus B19
- Cerebral infarction
- Increased risk infection - hyposplenism

21
Q

Management of sickle cell

A
  1. Avoid precipitants - cold, dehydration, exercise
    - BD penicillin prophylaxis and Imms
    - Folic acid
    - Blood Tx and iron chelation
    - Crisis: Hydration, analgesia, ABx, O2
22
Q

Causes of BM failure / pancytopenia

A
  • Inherited: Fanconi’s Anaemia, Schwachman-Diamond syndrome
  • Infection eg HIV, EBV, CMV, Hep C/E
  • Chemicals / radiation
  • AI
  • Acute leukaemia
  • BM infiltration lymphoma / solid tumours
  • Drugs - chemo
  • Ostepetrosis
23
Q

Features of Fanconi Anaemia

A

Recessive. Mutation FANC / BRCA 2
DNA repair disorder, more cancer
BM failure
Short, microcephaly
Hyperpigmentation
Anomalies - upper limb, renal, genital
Ix: Chromosomal breakage test

24
Q

Features of Leukaemia

A

ALL - Lymphoid. Boys >girls. More common.
AML - Myeloid. Boys=Girls. Auer Rods.
Presentation:
- BM failure
- Tissue infiltration - bone pain, hepatosplenomegaly, lymphadenopathy, soft tissue lumps, englarged testes, mediastinal mass
- BM / CSF blasts

25
Q

Genetic syndromes with increased risk of leukaemia

A

Down’s
Fanconi anaemia
NF1
Noonan
Wiskott-Aldrich

26
Q

Tumour lysis syndrome features

A

Hyperkalaemia
Hyperphosphataemia
High urate
Hypocalcaemia
Leukaemia - rapid breakdown of blast cells

27
Q

Definition of polycythaemia and significance

A

Haemocrit >65% 00> hyperviscosity

28
Q

What does PT test?

A

EXRINSIC pathway. Play Tennis outside.
Clotting factors II, V, VII, X
Abnormalities: Liver disease, DIC, Vit K deficiency, warfarin

29
Q

What does APTT test?

A

INTRINSIC pathway. Play Table Tennis inside.
II, V, VII, IX, X, XII, XI
Abnormalities: Lupus anticoagulant, VWD, Haemophilia, heparin, antiphospholipid

30
Q

Pathophysiology of Haemophilia

A

X-linked recessive. Females have mild Sx.
- Haemophilia A = Factor VIII deficiency (more common)
- Haemophilia B = Factor IX deficiency

31
Q

Presentation of Haemophilia

A

Neonates - IVH, bleeding
Mod - severe bleeding
Spontaneous bleeding into joints / muscles –> arthritis
Bleeding with procedures
Bleeding easily
Markedly deranged APTT, normal PT
NB clotting factor assays

32
Q

Treatment of Haemophilia

A

Recombinant factor concenentrates
Desmopressin

33
Q

Normal function of von Willebrand factor

A
  1. Platelet adhesion
  2. Bind and stabilise factor VIII - protect from proteolytic degredation
34
Q

Pathophysiology and presentation of Von Willebrand Disease

A

Dominant / recessive. Mutation Ch 12 –> reduced production of VWF / abnormal VWF
Presents:
- Menorrhagia
- Bruising
- Excessive bleeding from procedures
- Epistaxis
- Prolonged APTT, PT normal
- Low factor VIII - disrupted VWF binding
- Abnormal VWF ristocetin cofactor assay

35
Q

Management of Von Willebrand Disease

A

Mild - TXA
Severe - desmopressin prophylaxis (increased factor VIII / platelet aggregation), VWF concentrate, esp prior to surgery

36
Q

Pathophysiology / presentation / Tx DIC

A
  • Trigger (eg sepsis, malignancy, trauma) –> excessive and unregulated activation of clotting system –> fibrin clots and consumption of clotting factors / platelets.
  • Presents: Bleeding ++, thromboembolic complications
  • Ix: Prolonged PT and APTT, high fibrinogen, low platelets
  • Tx: Cause, transfusion
37
Q

What is lupus anticoagulant?

A

Ab that develops following infection (measles, adenovirus, mycoplasma)
Prolonged APTT, normal PT. APTT with 50:50 mixing –> remains abnormal in LA
Usually self-resolves.

38
Q

Pathophysiology / features / Tx of ITP

A
  • AI destruction of platelets.
  • Presents: Petechiae, purpura, epistaxis, superficial bleeding
  • Tx: Pred, IV immunoglobulin, Plt Tx
    Chronic >6m –> Rituximab / monoclonal AB
39
Q

Causes of thrombosis in children (rare)

A
  • Central line
  • Malignancy
  • DIC
  • SLE / sickle cell
  • Trauma
  • Polycythaemia
  • Chickenpox (low protein S)
  • Inherited deficiency of anticoagulants: Antithrombin, Protein C, Protein S
  • Factor V Leiden mutation - prevents protein C from binding
40
Q

What are naturally occurring anticoagulants and where do they act?

A

Antithrombin - Thrombin, factor V
Protein C - Factor VI, VIII
Protein S - enhance protein C

41
Q

What is Li-Fraumeni Syndrome?

A

Cancer pre-disposition syndrome
Mutation and loss of function p53 tumour suppressor gene.
FHx breast / brain cancer, sarcoma

RCPCH TAS/ AKP (20 decks)

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