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Factor 5 excess with spontaneous thrombosis

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Factor V excess with spontaneous thrombosis; PROACCELERIN EXCESS; THROMBOPHILIA WITH ELEVATED FACTOR V
Monarch Initiative: MONDO:0007594
OMIM®: 134400

Clinical features

From HPO
Pulmonary embolism
MedGen UID:
Concept ID:
Pathologic Function
An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
Peripheral arterial stenosis
MedGen UID:
Concept ID:
Disease or Syndrome
Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.
Recurrent thrombophlebitis
MedGen UID:
Concept ID:
Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
Elevated coagulation factor V activity
MedGen UID:
Concept ID:
Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.

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