haemostasis - inherited coagluative disorders Flashcards

1
Q

normal homesostasis steps

A

1) localised vasoconstriction at site of injury
Happen in parallel:
Primary
2) adhesion of platelets to damaged vessel wall and formation of a platelet aggregate or plug
Secondary
3) activation of coagulation cascade leading to fibrin formation, reinforcing the platelet plug
Then
4) activation of the fibrinolytic system which digests the haemostatic plug, re establishing vascular patency

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2
Q

platlets

A

small non nucleated cells
fragmetns of megakaryocyte cytoplasm
essential for primayr haemostatic plug

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3
Q

thrombocytopenia

A

reduced platlet count

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4
Q

thrombocytotsis

A

increased platlet count

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5
Q

coaglulation cascade is initiated by

A

tissue factor damage

factor 7a

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6
Q

once coagulation is initiated what is triggered

A
  • 10 to 10 a
  • 9 to 9a, factor 8 co factor to amplify 10 to 10a
  • form factor 2a (thrombin)
  • this catalyses fibrinogen (soluble) to fibrin(insoluble)
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7
Q

types of bleeding

A

primary haemostasis

secondary haemostasis

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8
Q

primary haemostasis

A
  • involves vessel wall, platelets and von Willebrand factor

- present with purpura, bruising, bleeding from cuts, heavy periods and surgical bleeding

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9
Q

what does Von willebrand factor do

A

sticks platelets to vessel wall)

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10
Q

secondary haemostasis

A
  • involves coagulation cascade
  • presents with joint and muscle haematomas and surgical bleeding
  • bruising is not prominent
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11
Q

menorrhagia

A

heavy menstraul periods

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12
Q

epistaxis

A

nosebleed

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13
Q

haemoptysis

A

coughing blood

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14
Q

haematemesis

A

vomiting blood

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15
Q

haematuria

A

blood in urine

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16
Q

melaena

A

black stol due to bleeding from the upper gastrointestinal tract

17
Q

managment of patient with bleeding disorder - history

A
  • easy bruising, spontaneous
  • bleeding after cuts/minor injury
  • epistaxis (nosebleed)
  • menorrhagia (heavy period)
  • excessive bleeding after surgery or dental extractions
  • family history
  • drugs eg aspirin, warfarin, cytotoxins
  • alcohol
18
Q

managment of patient with bleeding disorder - examination

A
  • ecchymoses (bruises)
  • purpura (pin prick brusining)
  • hemarthrosis
  • damaged joints
  • anaemia (due to bleeding)
  • signs of liver disease
  • splenomegaly
19
Q

investigations for those with a bleedign disorder

A
  • full blood count (platelet count)
  • clotting screen (includes APTT, fibrinogen, prothrombin time PT)
  • bleeding time or PFA (automated platelet function analysis)
20
Q

treating hamophilia A

A

factor 8 concentrate (severe)

  • Desmopressin (DDAVP)
  • releases factor 8 from endothelium
21
Q

treating haemophilia B

A

factor 9 concentrate

22
Q

treating thrombocytopenai

A

platlet transfusion

23
Q

treating wararin overdose

A

vit K

24
Q

vascular bleeding disorder types and inclusions

A

1) inherited
- ehlers danlos syndrome (abnormal collagen, skin elasticity)
- hereditary haemorrhagic telangiectasia
2) acquired
- senile purpura
- scurvy
- steroid purpura

25
Q

coagulation factor disorders

A

haemophilia A/B

von willebrand disease

26
Q

haemophilia B

A

x linked

factor 9 deficiency

27
Q

haemophilia A

A

x linked

factor 8 deficiecy

28
Q

von willebrand disease

A

autosomal dominantn

  • milder bleeding disorder than haemophilia
  • clotting factor plus platelet abnormality
29
Q

inheritnce of haemophilia

A

Man with haemophilia, normal partner
- sons will always be unaffected, as they will inherit mothers chromosome, with Y for man which does not affect haemophilia
- all daughters will inherit the X, and be carriers for haemophilia (obligate carries)
Carrier mother, unaffected male
- half will have haemophilia, half daughters will be carriers

30
Q

von willebrand diseas treatment

A
  • DDAVP

- intermediate purity (plasma derived) Factor 8

31
Q

thrombosis

A

blood coagulation inside a blood vessel

32
Q

arterial thrombosis

A
  • high pressure
  • platelet rich
  • examples include myocardial infarction (MI), stroke
  • treat with antiplatelet drugs
33
Q

venous thrombosis

A
  • low pressure
  • fibrin rich
  • examples: deep vein thrombosis (DVT), pulmonary embolism (PE)
  • treat with anticoagulants
34
Q

risk factors for venous thrombosis

A
  • age, previous VTE
  • surgery/trauma, immobility, obesity
  • cancer, serious illness
  • pregnancy, contraceptive pill, HRT