THROMBOSIS IN CHILDREN Flashcards Preview

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Flashcards in THROMBOSIS IN CHILDREN Deck (9)
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1
Q

What are the inherited thrombophilias?

A

Protein C deficiency

Protein S deficiency

Antithrombin deficiency

Factor V Leiden

Prothrombin gene G20210A mutation

2
Q

What are protein C and protein S?

A

Natural anticoagulants. They are co-factors of each that work by inhibiting the action of FVa and FVIIIa.

3
Q

What is the inheritance pattern of protein C or protein S deficiency?

A

Autosomal dominant, however, heterozygotes are affected worse than homozygotes.

4
Q

What condition do children with homozygous deficiency of protein C present with?

A

Purpura fulminans

5
Q

What are the features of purpura fulminans (homozygous deficiency of protein C)?

A

Life-threatening thrombosis with widespread haemorrhage and purpura into the skin in neonatal period.

6
Q

What is factor V Leiden?

A

An abnormality in the structure of factor V means that it is resistant to degradation by protein C.

7
Q

What are the acquired disorders which lead to hypercoagulable state in children?

A

Catheter-related thrombosis

DIC

Hypernatraemia

Polycythaemia - due to congenital heart disease

Malignancy

SLE

8
Q

Which children should be screened for inherited thrombophilias?

A

Any child with unanticipated or extensive venous thrombosis, ischaemic skin lesions or neonatal purpura fulminans

Any child with a positive family history of neonatal purpura fulminans

9
Q

What are the screening tests for inherited thrombophilias?

A

Assays for protein C and S

Antithrombin assay

PCR for factor V Leiden

PCR for prothrombin gene mutation