Primary Haemostasis Problems

Question 1

How is HHT inherited?

Answer 1

AD

Question 2

Where are the mutations in HHT?

Answer 2

ENG
ALK1
SMAD4

Question 3

Describe the pathogenesis of HHT?

Answer 3

Causes dilation of capillaries and small arterioles

Question 4

How does HHT present?

Answer 4

Small, blanching red spots on nose and throughout GI tract

Question 5

What condition results from HHT?

Answer 5

Iron def anaemia

due to recurrent GI bleeds and epistaxis

Question 6

How does easy bruising syndrome present?

Answer 6

Bruises (funnily enough) on arms, legs, trunk

Question 7

What causes senile purpura?

Answer 7

Atrophy of collage in endothelial wall

Question 8

What other conditions have the same pathogenesis as senile purpura?

Answer 8

Scurvy

Steroid induced bruising

Question 9

What kind of reaction is HSP?

Answer 9

Type III hypersensitivity

Question 10

What does HSP commonly follow?

Answer 10

URTI

Question 11

How does HSP present?

Answer 11

Mostly purpura on legs and butt
Abdo pain
Haematuria 
Glomerulonephritis 
Arthritis

Question 12

How is HSP treated?

Answer 12

Usually not and patients make spontaneous recovery

Question 13

What is ITP?

Answer 13

Immune mediate destruction of platelets

Question 14

Which age group is most commonly affected by ITP?

Answer 14

Kids 2-6

Question 15

How does ITP present?

Answer 15

Epistaxis
Purpura
Menorrhagia
Easy bruising 
Commonly follows viral illness in kids

Question 16

Which antibodies are associated with ITP in adults?

Answer 16

Antibodies against glycoprotein IIb/IIIa or Ib

Question 17

Compare onset of ITP in kids vs adults

Answer 17

Kids - acute

Adults - chronic, less severe

Question 18

What does bone marrow aspirate show in ITP?

Answer 18

Normal or increased megakaryocytes

Question 19

What does FBC show in ITP?

Answer 19

Thrombocytopenia

Question 20

How is ITP managed?

Answer 20

Not usually as spontaneous recovery common

Question 21

How is ITP with severe bleeding managed in kids?

Answer 21

Corticosteroids
IV Igs
Anti-D

Question 22

How is ITP with severe bleeding treated in adults?

Answer 22

Prednisolone 1mg/kg/day
IV Igs
Platelet transfusions

Question 23

Describe TTP

Answer 23

vWF is not cleaved properly so its big
More platelets then stick to it, form clots and block small vessels (thrombosis)
This uses up all the platelets in the body so there is a tendency to bleed (thrombocytopenia)

Question 24

How does TTP present?

Answer 24

Purpura
Fever
Haemolytic anaemia
Fluctuating cerebral dysfunction

Question 25

Give secondary causes of TTP

Answer 25

OCP
SLE
infection
pregnancy
clopidogrel treatment

Question 26

In which group is TTP more common?

Answer 26

Overweight, black women

Question 27

What is von Willebrand’s disease?

Answer 27

vWF def causing defective platelet function and factor VIII def

Question 28

How is VW disease inherited?

Answer 28

AD - type 1 and 2

AR - type 3

Question 29

Where is the mutation in VW disease?

Answer 29

vWF gene of chromosome 12

Question 30

Describe type 1 VW disease

Answer 30

Quantitative

Question 31

Describe type 2 VW disease

Answer 31

Qualitative

Question 32

How does VW disease present?

Answer 32

Epistaxis
Bruising
Bleeding after minor trauma

Question 33

What do investigations show in VW disease?

Answer 33

PT normal
APTT prolonged
Decreased vWF
Factor VIII:C ratio reduced

Question 34

How is VW disease treated?

Answer 34

Factor VIII replacement therapy if mod-sev disease