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] Jaspinder Kaur, MBBS[3]
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 which can be origin from venous or both venous and arterial clots might be classified into heritable, acquired or mixed resulting from the interactions between the environment (e.g. oestrogen use, obesity or other lifestyle factors) and genetic factors as elaborated in the following Table 1.[1][2]
Table 1: Classification of thrombophilias
Type of classification | Medical conditions |
---|---|
Inherited thrombophilia or primary hypercoagulable state[3] [4] |
|
Acquired thrombophilia or secondary hypercoagulable state [5] [6] [7][8] | Age, BMI >30 kg/m2, Immobilization, Trauma/major surgery, Orthopedic surgery, Malignancy, Myeloproliferative disorders (polycythemia vera, essential thrombocythemia, hyperviscosity), Pregnancy, 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) |
Mixed/Unknown | Hyperhomocysteinemia, APC resistance unrelated to Factor V Leiden, Increased Factor VIII levels, Increased Factor XI levels, Increased Factor IX levels, Increased levels of thrombin-activatable fibrinolysis inhibitor (TAFI), Decreased levels of free tissue factor pathway inhibitor (TFPI) |
Arterial thrombotic disorders [9] | APLS and lupus anticoagulant, HIT, DIC, PNH, Cold agglutinins (associated with mycoplasma infections), Vasculitis, Hyperhomocysteinemia, JAK2-positive MPNs like Polycythemia vera and Essential thrombocythemia |
Venous thrombotic disorders [9] | Superior vena cava thrombosis, Jugular vein thrombosis, Cerebral venous sinus thrombosis, Cavernous sinus thrombosis, Retinal vein occlusion, Budd-Chiari syndrome with hepatic thrombus or cirrhosis and associated splenic vein thrombus |
References
- ↑ 1.0 1.1 Hoffman R, Benz EJ, Shattil SJ, et al. Hematology: Basic Principles and Practice: Elsevier Science Health Science Division; 2004.
- ↑ 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.
- ↑ Feero WG (2004). "Genetic thrombophilia". Prim Care. 31 (3): 685–709, xi. doi:10.1016/j.pop.2004.04.014. PMID 15331254.
- ↑ Khan, Salwa; Dickerman, Joseph D (2006). Thrombosis Journal. 4 (1): 15. doi:10.1186/1477-9560-4-15. ISSN 1477-9560. Missing or empty
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(help) - ↑ Rosendaal, FR (1999). "Venous thrombosis: a multicausal disease". The Lancet. 353 (9159): 1167–1173. doi:10.1016/S0140-6736(98)10266-0. ISSN 0140-6736.
- ↑ Martinelli, Ida; Bucciarelli, Paolo; Mannucci, Pier Mannuccio (2010). "Thrombotic risk factors: Basic pathophysiology". Critical Care Medicine. 38: S3–S9. doi:10.1097/CCM.0b013e3181c9cbd9. ISSN 0090-3493.
- ↑ Garcia de Frutos, Pablo; von Känel, Roland; Margani, Angelina; Stauber, Stefanie; Meyer, Fiorenza A.; Demarmels Biasiutti, Franziska; Vökt, Franziska; Wissmann, Thomas; Lämmle, Bernhard; Lukas, Paul S. (2015). "Depressive Symptoms as a Novel Risk Factor for Recurrent Venous Thromboembolism: A Longitudinal Observational Study in Patients Referred for Thrombophilia Investigation". PLOS ONE. 10 (5): e0125858. doi:10.1371/journal.pone.0125858. ISSN 1932-6203.
- ↑ Martinelli, Ida; De Stefano, Valerio; Mannucci, Pier M. (2014). "Inherited risk factors for venous thromboembolism". Nature Reviews Cardiology. 11 (3): 140–156. doi:10.1038/nrcardio.2013.211. ISSN 1759-5002.
- ↑ 9.0 9.1 Ashorobi D, Ameer MA, Fernandez R. Thrombosis. [Updated 2021 Feb 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538430/