Description

Rarely a hereditary deficiency may affect 2 or more different coagulation factors. This may be due to multiple mutations or a single mutation that impacts multiple factors.


 

These disorders affect siblings or other close family members.

 

Patients may have a severe bleeding disorder.

 

Deficient Factors

Abnormal Tests

Other Deficiencies

Type

V and VIII

PT and aPTT

 

I

VIII and IX

aPTT

 

II

II, VII, IX, X

PT and aPTT

proteins S and C

III

VII and VIII

PT and aPTT

 

IV

VIII, IX and XI

aPTT

 

V

IX and XI

aPTT

 

V1

VIII and X

PT and aPTT

 

VII

 

where:

• All of the deficient elements in Type III are vitamin K dependent.

• 5 of the 7 types involve Factor VIII.

• 5 of the 7 types involve 2 factors, 1 type involves 3 and 1 type involves 4.

 

Differential diagnosis - acquired disorder affecting multiple factors:

(1) vitamin K deficiency

(2) consumptive coagulopathy (DIC, other)

(3) mixed single hereditary factor deficiency and acquired deficiency

 


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