37 - Heritable Bleeding Disorders Flashcards Preview

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Flashcards in 37 - Heritable Bleeding Disorders Deck (21):
1

Vascular/Platelet defect clinical presentation

Petechiae & superficial bruises

Skin and mucosal membranes

Spontaneous

Bleeding immediate, prolonged + recurrent

2

Coagulation defect - clinical presentation

Deep spreading haematoma

Haemarthrosis (bleeding into joint spaces)

Retroperitoneal bleeding

Bleeding prolonged and often recurrent

3

Petechiae - what does it look like?

Do not blanch with pressure

Not palpable

4

Types of von Willebrand disease

Absent molecule - severe

Reduced production of normal molecule

Low molecular weight polymer

5

What factor is associated with VWF? What is this protein responsible for?

FVIII - carrier protein
FVIIIa responsible for turning FIXa into FX

6

VWF - inheritance pattern

AD

7

VWF features

Most common heritable bleeding disorder
Mainly AD
Men + Women

Defective primary haemostasis
Menorrhagia
Post op and post partum bleeding

8

VWF which blood group has lower levels of vWF?

O blood group

9

Treatment of vWF

Antifibrinolytics
DDAVP - for type I vWD
Factors containing concentrates of vWF
Vaccination against hepatitis
COCP (combined oral contraceptive pill) for menorrhagia

10

Haemophilia inheritance factors

XL recessive

11

Haemophilia A - factor affected and prevalence

Factor VIII deficiency
1in 5,000 males

12

Haemophilia B - factor affected and prevalence

Factor IX deficiency
1 in 30k males

13

Extrinsic clotting factors

Tissue factor (thromboplastin)
Ca2+
Factor VII

14

Intrinsic clotting factors

Factor XII, XI, IX, VIII
Platelets
Phospholipids
Ca3+

15

What % of haemophilia diagnoses are de novo?

30%

16

Types of bleed

Spontaneous/post-traumatic
Joint bleeding = haemarthrosis
Muscle haemorrhage
Soft tissue
Life threatening bleeding

17

Haemophilia - treatment

Replacement of missing clotting proteins - on demand or prophylaxis

DDAVP (desmopressin) - mild/mod haemoA

Factor concentrates

Antifibrinolytic agents

Vaccination vs hep AandB

Supportive measures

18

Incidence of inhibitor development in Haemo(x)

25% in haemo A

19

What is inhibitor development?

Antibodies fight the factor concentrates

Can't use factor concentrates

20

Effects of inhibitor development

Results in poor recovery and short half of factor replacement therapy

Specialised management of bleeds needed

Eradication of inhibitor required via immune tolerance

Genetic predisposition makes susceptible

21

Investigations for haemophilia

FBC and blood film

Coag screen

Refer to haematologist if history suspicious

Inhibitor assays

Platelet function tests

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