Bleeding Disorders Flashcards

Includes haemophilia and Von Willebrand disease

1
Q

Haemophilia A is a deficiency of which clotting factor?

A

Factor VIII

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2
Q

Haemophilia B is a deficiency of which clotting factor?

A

Factor IX

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3
Q

Haemophilia results in excess bleeding because it makes primary haemostasis less effective. T/F?

A

False - Haemophilia results in excess bleeding because it makes secondary haemostasis less effective

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4
Q

What is the mode of inheritance for haemophilia A and B?

A

X-linked recessive

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5
Q

Which sex is primarily affected by haemophilia?

A

Males

It is an x-linked recessive condition

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6
Q

A family history of haemophilia is always present in patients with. haemophilia. T/F?

A

False - up to 30% of new cases are. the result of sporadic mutations

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7
Q

The likelihood of bleeding can be roughly predicted from the level of Factor VIII present in haemophilia A. How is severe haemophilia A classified?

A

Factor VIII level <2 units /dL

Frequent spontaneous bleeds into joints and muscles

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8
Q

The likelihood of bleeding can be roughly predicted from the level of Factor VIII present in haemophilia A. How is moderate haemophilia A classified?

A

Factor VIII level 2-5 units /dL

Some spontaneous bleeds. Bleeding after minor trauma

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9
Q

The likelihood of bleeding can be roughly predicted from the level of Factor VIII present in haemophilia A. How is mild haemophilia A classified?

A

Factor VIII level 5-45 units /dL

Excessive bleeding after significant trauma or surgery

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10
Q

At what stage in development does haemophilia A become apparent?

A

When the child begins to crawl

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11
Q

Haemarthrosis is the most common problem in haemophilia A. Which joints are most commonly affected by this?

A

Elbows and knees

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12
Q

What are the clinical features of haemophilia A?

A
Haemarthrosis
Easy bruising (ecchymosis)
Haematomas
Prolonged bleeding after cuts
GI bleeding
Haematuria
Severe nosebleeds (epitaxes)
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13
Q

What result would you expect to see on PT and APTT for a patient with haemophilia?

A

PT - normal

APTT - prolonged

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14
Q

Besides APTT, what test can be used to confirm haemophilia?

A

Clotting factor assay

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15
Q

Describe the management of haemophilia A?

A

Injections of Factor VIII concentrate which can often be self-administered during bleeds
Desmopressin is useful in mild haemophilia A

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16
Q

Why is desmopressin useful for the treatment of patients with mild haemophilia A?

A

Desmopressin stimulates vWF release from endothelial cells which promotes the stabilisation of residual Factor VIII

17
Q

What is the most common inherited bleeding disorder?

A

Von Willebrand disease

18
Q

What are the two key functions of Von Willebrand factor?

A

1) Promotion of platelet adhesion to damaged endothelium and other platelets
2) Transport and stabilisation of Factor VIII

19
Q

Type one Von Willebrand disease is most common. What is the mode of inheritance for this condition?

A

Autosomal dominant

20
Q

Describe the clinical features of severe Von Willebrand disease?

A

Spontaneous bleeding - particularly epistaxes (nosebleeds), gum bleeding and menorrhagia
There can also be easy bruising (ecchymosis)

21
Q

What test can be involved in the diagnosis of Von Willebrand disease?

A

FBC, APTT, functional assay of vWF and Factor VIII:C assay

22
Q

What drug can be used to treat significant bleeding in Von Willebrand disease?

A

Desmospressin

23
Q

Besides haemophilia and Von Willebrand disease, what can cause bleeding disorders?

A

Liver failure
Vitamin K deficiency
Autoimmunity against clotting factors
Disseminated intravascular coagulation