Von Willebrand Disease

Question 1

What is Von Willebrand Disease?

Answer 1

Most common inherited cause of abnormal bleeding

Many underlying causes, mostly autosomal dominant

Malfunctioning of Von Willebrand factor

Question 2

How does Von Willebrand Disease present?

Answer 2

History of unusually easy, prolonged or heavy bleeding

Bleeding gums with brushing

Nose bleeds (epistaxis)

Heavy menstrual bleeding (menorrhagia)

Heavy bleeding during surgical operations

Family history of heavy bleeding

Question 3

How is Von Willebrand Disease diagnosed?

Answer 3

Based on a history of abnormal bleeding, family history, bleeding assessment tools and laboratory investigations

Question 4

What is the management of VWD?

Answer 4

Management is required either in response to major bleeding or trauma

Desmopressin can be used to stimulates the release of VWF

VWF can be infused

Factor VIII is often infused along with plasma-derived VWF

Question 5

How are women with VWD that suffer from heavy period managed?

Answer 5

Tranexamic acid

Mefanamic acid

Norethisterone

Combined oral contraceptive pill

Mirena coil

Hysterectomy

Question 6

What is Haemophilia?

Answer 6

Haemophilia A and haemophilia B are inherited severe bleeding disorders
X Linked Recessive

A is caused by a deficiency in factor VIII

B (also known as Christmas disease) is caused by a deficiency in factor IX

Question 7

How does haemophilia present?

Answer 7

Most cases present in neonates or early childhood. It can present with intracranial haemorrhage, haematomas and cord bleeding in neonates

Question 8

Where does abnormal bleeding occur in haemophilia?

Answer 8

joints (haemoathrosis) and muscles

Gums
Gastrointestinal tract
Urinary tract causing haematuria
Retroperitoneal space
Intracranial
Following procedures

Question 9

How is haemophilia diagnosed?

Answer 9

Based on:
Bleeding scores
Coagulation factor assays
Genetic testing

Question 10

What is the management of haemophilia?

Answer 10

Affected clotting factors (VIII or IX) can be replaced by intravenous infusions
Complicaation = antibodies against the clotting factor

Acute episodes of bleeding:

Infusions of the affected factor (VIII or IX)

Desmopressin to stimulate the release of von Willebrand Factor

Antifibrinolytics such as tranexamic acid

Question 11

What factors predispose someone to blood clots?

Answer 11

Antiphospholipid syndrome

Antithrombin deficiency

Protein C or S deficiency

Factor V Leiden

Hyperhomocysteinaemia

Prothombin gene variant

Activated protein C resistance