37 - Heritable Bleeding Disorders Flashcards

1
Q

Vascular/Platelet defect clinical presentation

A

Petechiae & superficial bruises

Skin and mucosal membranes

Spontaneous

Bleeding immediate, prolonged + recurrent

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2
Q

Coagulation defect - clinical presentation

A

Deep spreading haematoma

Haemarthrosis (bleeding into joint spaces)

Retroperitoneal bleeding

Bleeding prolonged and often recurrent

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3
Q

Petechiae - what does it look like?

A

Do not blanch with pressure

Not palpable

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4
Q

Types of von Willebrand disease

A

Absent molecule - severe

Reduced production of normal molecule

Low molecular weight polymer

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5
Q

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

A

FVIII - carrier protein

FVIIIa responsible for turning FIXa into FX

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6
Q

VWF - inheritance pattern

A

AD

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7
Q

VWF features

A

Most common heritable bleeding disorder
Mainly AD
Men + Women

Defective primary haemostasis
Menorrhagia
Post op and post partum bleeding

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8
Q

VWF which blood group has lower levels of vWF?

A

O blood group

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9
Q

Treatment of vWF

A
Antifibrinolytics
DDAVP - for type I vWD
Factors containing concentrates of vWF
Vaccination against hepatitis 
COCP (combined oral contraceptive pill) for menorrhagia
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10
Q

Haemophilia inheritance factors

A

XL recessive

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11
Q

Haemophilia A - factor affected and prevalence

A

Factor VIII deficiency

1in 5,000 males

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12
Q

Haemophilia B - factor affected and prevalence

A

Factor IX deficiency

1 in 30k males

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13
Q

Extrinsic clotting factors

A

Tissue factor (thromboplastin)
Ca2+
Factor VII

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14
Q

Intrinsic clotting factors

A

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

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15
Q

What % of haemophilia diagnoses are de novo?

A

30%

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16
Q

Types of bleed

A
Spontaneous/post-traumatic
Joint bleeding = haemarthrosis
Muscle haemorrhage
Soft tissue
Life threatening bleeding
17
Q

Haemophilia - treatment

A

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
Q

Incidence of inhibitor development in Haemo(x)

A

25% in haemo A

19
Q

What is inhibitor development?

A

Antibodies fight the factor concentrates

Can’t use factor concentrates

20
Q

Effects of inhibitor development

A

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
Q

Investigations for haemophilia

A

FBC and blood film

Coag screen

Refer to haematologist if history suspicious

Inhibitor assays

Platelet function tests