Thrombophilia classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Asiri Ediriwickrema, M.D., M.H.S. [2]

Overview

Thrombophilia may be classified into three subtypes: inherited or primary hypercoagulable states, acquired or secondary hypercoagulable states, and mixed/unknown.

Classification

• Thrombophilia may be classified into three subtypes:

• Inherited thrombophilia or primary hypercoagulable state
• Acquired thrombophilia or secondary hypercoagulable state
• Mixed/Unknown

• Different thrombophilic states are associated with venous or both venous and arterial clots.

Thrombophilia Classification
Inherited (Primary)	Acquired (Secondary)	Mixed/Unknown
Activated protein C resistance (Factor V Leiden)	Age	Hyperhomocysteinemia
Prothrombin gene mutation (Prothrombin G20210A)	Immobilization	APC resistance unrelated to Factor V Leiden.
Antithrombin deficiency	Trauma/major surgery	Increased Factor VIII levels
Protein C and Protein S deficiency	Orthopedic surgery	Increased Factor XI levels
Dysfibrinogenemia	Malignancy	Increased Factor IX levels
Non-O blood type	Myeloproliferative disorders (polycythemia vera, essential thrombocythemia, hyperviscosity)	Increased levels of thrombin-activatable fibrinolysis inhibitor (TAFI)
	Pregnancy	Decreased levels of free tissue factor pathway inhibitor (TFPI)
	Estrogen and testosterone (oral contraceptives, hormone replacement therapy, and selective estrogen receptor modulator)
	Obesity
	Heart Failure
	Cirrhosis
	Chronic renal disease, Nephrotic syndrome
	Antiphospholipid syndrome (APLS) or lupus anticoagulant
	Heparin-induced thrombocytopenia (HIT)
	Disseminated intravascular coagulopathy (DIC)
	Paroxysmal nocturnal hemoglobinuria (PNH)
	Autoimmune disorders (Vasculitis, Celiac disease, Inflammatory bowel disease)
	Thrombotic microangiopathy
	Sickle cell disease
	Drug related (chemotherapies including L-aspariginase, mitomycin; infusion of clotting factors including prothrombin complex concentrates, cryoprecipitate; drugs including hydralazine, procainamide, or phenothiazines can promote lupus anticoagulant formation)

Thrombophilic states associated with arterial clots
APLS and lupus anticoagulant
HIT
DIC
PNH
Cold agglutinins (associated with mycoplasma infections)
Vasculitis
Hyperhomocysteinemia