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
Specialty: Hematology Oncology, Clinical Laboratory