Thrombophilia classification: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Thrombophilia}} | {{Thrombophilia}} | ||
{{CMG}}; {{AE}} {{asiri}} | {{CMG}}; {{AE}} {{asiri}} {{JK}} | ||
==Overview== | ==Overview== | ||
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==Classification== | ==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.<ref name=Hoffman1>Hoffman R, Benz EJ, Shattil SJ, et al. Hematology: Basic Principles and Practice: Elsevier Science Health Science Division; 2004.</ref><ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360 }} </ref> | ||
'''Table 1: Classification of thrombophilias''' | |||
{| class="wikitable" | {| class="wikitable" | ||
|- | |- | ||
! '''Type of classification''' !! '''Medical conditions''' | |||
|- | |- | ||
| | |'''Inherited thrombophilia or primary hypercoagulable state'''<ref name="pmid15331254">{{cite journal| author=Feero WG| title=Genetic thrombophilia. | journal=Prim Care | year= 2004 | volume= 31 | issue= 3 | pages= 685-709, xi | pmid=15331254 | doi=10.1016/j.pop.2004.04.014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15331254 }} </ref> <ref name="KhanDickerman2006">{{cite journal|last1=Khan|first1=Salwa|last2=Dickerman|first2=Joseph D|journal=Thrombosis Journal|volume=4|issue=1|year=2006|pages=15|issn=14779560|doi=10.1186/1477-9560-4-15}}</ref> | ||
|| | |||
*''Established genetic factors:'' [[Activated protein C resistance]] ([[Factor V Leiden]]), [[Prothrombin]] gene mutation (Prothrombin G20210A), [[Protein C deficiency|Protein C]], [[Protein S deficiency]], Antithrombin deficiency | |||
*''Rare genetic factors:'' Dysfibrinogenemias, Hyperhomocysteinemia | |||
*''Indeterminate factors:'' Elevated Factor VIII, Elevated Factor IX, Elevated Factor XI, Plasminogen deficiency, Tissue plasminogen activator, Elevated lipoprotein a, Factor VII, Factor XII, Platelet glycoprotein, Plasminogen activator inhibitor, Heparin cofactor II, Thrombomodulin, Histidine-rich glycoprotein | |||
|- | |- | ||
| | | '''Acquired thrombophilia or secondary hypercoagulable state''' <ref name="Rosendaal1999">{{cite journal|last1=Rosendaal|first1=FR|title=Venous thrombosis: a multicausal disease|journal=The Lancet|volume=353|issue=9159|year=1999|pages=1167–1173|issn=01406736|doi=10.1016/S0140-6736(98)10266-0}}</ref> <ref name="MartinelliBucciarelli2010">{{cite journal|last1=Martinelli|first1=Ida|last2=Bucciarelli|first2=Paolo|last3=Mannucci|first3=Pier Mannuccio|title=Thrombotic risk factors: Basic pathophysiology|journal=Critical Care Medicine|volume=38|year=2010|pages=S3–S9|issn=0090-3493|doi=10.1097/CCM.0b013e3181c9cbd9}}</ref> <ref name="Garcia de Frutosvon Känel2015">{{cite journal|last1=Garcia de Frutos|first1=Pablo|last2=von Känel|first2=Roland|last3=Margani|first3=Angelina|last4=Stauber|first4=Stefanie|last5=Meyer|first5=Fiorenza A.|last6=Demarmels Biasiutti|first6=Franziska|last7=Vökt|first7=Franziska|last8=Wissmann|first8=Thomas|last9=Lämmle|first9=Bernhard|last10=Lukas|first10=Paul S.|title=Depressive Symptoms as a Novel Risk Factor for Recurrent Venous Thromboembolism: A Longitudinal Observational Study in Patients Referred for Thrombophilia Investigation|journal=PLOS ONE|volume=10|issue=5|year=2015|pages=e0125858|issn=1932-6203|doi=10.1371/journal.pone.0125858}}</ref><ref name="MartinelliDe Stefano2014">{{cite journal|last1=Martinelli|first1=Ida|last2=De Stefano|first2=Valerio|last3=Mannucci|first3=Pier M.|title=Inherited risk factors for venous thromboembolism|journal=Nature Reviews Cardiology|volume=11|issue=3|year=2014|pages=140–156|issn=1759-5002|doi=10.1038/nrcardio.2013.211}}</ref> | ||
|| [[Age]], BMI >30 kg/m2, [[Immobilization]], [[Trauma]]/major surgery, [[Orthopedic surgery]], [[Malignancy]], [[Myeloproliferative neoplasm|Myeloproliferative disorders]] ([[polycythemia vera]], [[essential thrombocythemia]], [[hyperviscosity]]), [[Pregnancy]], [[Estrogen]] and [[testosterone]] ([[oral contraceptive]]s, [[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''' <ref name= "sdf">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/</ref> | ||
|| APLS and lupus anticoagulant, HIT, DIC, PNH, [[Cold_agglutinin_disease|Cold agglutinins]] (associated with [[Mycoplasma_pneumonia|mycoplasma infections]]), Vasculitis, Hyperhomocysteinemia, JAK2-positive MPNs like Polycythemia vera and Essential thrombocythemia | |||
|- | |- | ||
| | | '''Venous thrombotic disorders''' <ref name= "sdf">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/</ref> | ||
|| 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 | |||
|} | |} | ||
Latest revision as of 18:43, 6 April 2021
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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
|title=(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/