Haemophilia and Von Willebrands Disease

Question 1

Haemophilia A;
Factor VIII deficiency.
X-linked ?, but ? rate of new mutations

Answer 1

recessive

high

Question 2

Haemophilia B;
Factor IX deficiency (aka ? disease).
X-linked ?.

Answer 2

christmas

recessive

Question 3

Clinical features;
Both diseases behave the same, and features depend on ?.
o ? bleeds following ? trauma.
o Recurrent ? leading to ? arthropathies.
o ? syndrome/nerve ? can develop due pressure effects .

Answer 3

severity
major
minor
haemarthrosis
crippling
compartment
palsies

Question 4

Diagnosis;
Raised ?.
Low factor ? / ? on assays .

Answer 4

8

9

Question 5

Management;

Avoid ? and ? injections.
? bleeding: compression & elevation, ? (recombinant ADH) raises factor ? levels and may be sufficient.
? bleeding (e.g. ?): recombinant ? ?/? to raise factor levels to ?% of normal.
Life threatening bleeds: raise levels to ?% of normal.

Answer 5

nsaids
IM
minor
desmopressin
8
major
factor 8/9
50
100

Question 6

Other causes of clotting factor deficiency are ?, ? disease, ???, vitamin ? deficiency or anticoagulant drugs.

Answer 6

vWD
liver
DIC
K

Question 7

Von Willebrand’s Disease;

? of vWF (or presence of abnormally functioning vWF).
This gives symptoms of a ? type disorder;
o ? / ?, with ? rare in vWF.
? is increased, but ? and ? are within normal limits.

Answer 7

absence
platelet
epistaxis/menorrhagia
haemarthroses
APTT
platelets
INR

Question 8

vWD

Can be autosomal recessive or autosomal dominant.
o Autosomal ?: complete absence of detectable vWF (?%).
o Autosomal ?: less severe depletion of vWF (?%)

Answer 8

recessive
20
dominant
80

Question 9

vWD

? management is required.
o ? acid for mild bleeding.
o ? / recombinant factor ? for more severe bleeds.
• vWF has a secondary role of binding factor VIII to prevent destruction, so ? factor VIII levels co-exist

Answer 9

expert
tranexamic
desmopressin
8
low