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.[1][2]

Classification

  • Prothrombotic states may be heritable, acquired or mixed ± the result of the environment (e.g. oestrogen use, obesity or other lifestyle factors) interacting with genetic background.
  • Thrombophilia may be classified into three subtypes:[1][2]
  • 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
  • JAK2-positive MPNs like polycythemia vera and essential thrombocythemia are associated with arterial thrombotic disorders.

References

  1. 1.0 1.1 Hoffman R, Benz EJ, Shattil SJ, et al. Hematology: Basic Principles and Practice: Elsevier Science Health Science Division; 2004.
  2. 2.0 2.1 Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.

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