Haematology

Question 1

Von wllibrand disease affects what % of the population?

Answer 1

0.1-1%

Question 2

What is the most common inherited bleeding disorder?

Answer 2

Von willibrands disease

Question 3

VWD affects males and females equally, tru or false

Answer 3

True

Question 4

Which type of VWD is most common?

Answer 4

Type 1

Question 5

Define type 1 VWD

Answer 5

Most common 80%
VWF works normally but not enough of it
Generally milder Sx but can be significant bleeding if low levels

Question 6

define type 2 VWD

Answer 6

VWF normal amount but doesn’t work properly

Question 7

Define type 3 VWD

Answer 7

Very rare
Little of no VWF in blood
Bleed more often, more severe,can be in muscles or joints

Question 8

Common symptoms of VWD include

Answer 8

Nosebleeds hard to stop
Bruise easy
Heaven periods
Cuts bleed for longer
Gums bleed

Less common blood in stools, urine

Question 9

Describe inheritance patterns of VWD

Answer 9

Type 1 and 2 autosomal dominant
1 in 2 chance of kids inheriting

Type 3 autosomal recessive
Parent carries mild to no Sx
Kids inherit 1 in 4 - mod severe disease
1 in 2 chance of inheriting carrier status
1 in 4 chance will not inherit at all

Question 10

How is VWD diagnosed?

Answer 10

History and FHx
von willibrand antigen - measure amount of factor in blood
VWF ristocetin cofactor activity - how well it works
FVIII activity
VWF multiverse -to diagnose type
Platelet function
Mainly ordered by haem

Question 11

inheritance pattern of heamachomatosis

Answer 11

austosommal recessive commonly in european/celtic descent

Question 12

most common gene pattern in haemachromatosis

Answer 12

C282Y homozygotic - not all will progress through all stages of disease

Question 13

symptoms of iron overload

Answer 13

which include severe fatigue, arthritis, impotence, raised alanine aminotransferase/aspartate aminotransferase, fibrosis or cirrhosis, diabetes, and cardiomyopathy.