Thrombophilia differential diagnosis: Difference between revisions

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{{Thrombophilia}}
[[Image:Home_logo1.png|right|250px|link=http://www.wikidoc.org/index.php/Thrombophilia]]
{{CMG}} {{AE}} {{asiri}}
{{CMG}}; {{AE}} {{MKA}}, {{S.G.}}, {{asiri}}, {{JK}}


==Overview==
==Overview==
Thrombophilia is a prothrombotic state due to an underlying process. Inherited thrombophilias must be differentiated from acquired thrombophilias, as it may influence the selection and duration of [[Anticoagulant|anticoagulation]]. Inherited thrombophilias should be suspected in patients with the certain [[Thrombophilia_history_and_symptoms|clinical presentations]].<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><ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref> [[Thrombophilia screening|Screening]] for inherited thrombophilias is controversial and should be performed in the appropriate clinical context.<ref name="pmid21340752">{{cite journal| author=Middeldorp S| title=Evidence-based approach to thrombophilia testing. | journal=J Thromb Thrombolysis | year= 2011 | volume= 31 | issue= 3 | pages= 275-81 | pmid=21340752 | doi=10.1007/s11239-011-0572-y | pmc=3056012 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21340752  }} </ref>
Thrombophilias must be differentiated from other diseases that cause the following clinical presentations: family history of [[thrombosis]], especially at an early age (< 45 years), unprovoked [[thrombosis]] at an early age (<40-55 for [[Venous thromboembolism|venous thrombosis]] and <50-55 for [[arterial thrombosis]]), recurrent [[thrombosis]] including [[deep venous thrombosis]], [[pulmonary embolism]], or [[superficial venous thrombosis]].  


==Differential Diagnosis==
==Differential Diagnosis==
*Thrombophilia is a prothrombotic state due to an underlying process 
Thrombophilias must be differentiated from other diseases that cause the following clinical presentations:<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><ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref>
*Inherited thrombophilias must be differentiated from acquired thrombophilias, as it may influence the selection and duration of  [[Anticoagulant|anticoagulation]]
*Family history of [[thrombosis]], especially at an early age (< 45 years)
**The most common inherited thrombophilias include [[Factor V Leiden]] and [http://emedicine.medscape.com/article/209742-overview Prothrombin G20210A]
*Unprovoked [[thrombosis]] at an early age (<40-55 for [[venous thrombosis]] and <50-55 for [[arterial thrombosis]])
**The most common acquired thrombophilic states include [[surgery]], [[trauma]], or prolonged [[immobility]]
*Recurrent [[thrombosis]] including [[deep venous thrombosis]], [[pulmonary embolism]], or [[superficial venous thrombosis]]
**Refer to the [[Thrombophilia_classification|classification section]] for a complete description of various hypercoagulable states
*[[Thrombosis]] at multiple sites, or unusual locations including in [[cerebral]], [[hepatic]], [[portal]], [[mesenteric]], and [[renal veins]]
*Inherited thrombophilias should be suspected in patients with the following clinical presentations:<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><ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref>  
*[[Thrombosis]] in [[arteries]] with the abscence of [[peripheral_arterial_disease|arterial disease]]  
**Family history of thrombosis, especially at an early age (< 45 years)
*History of [[fetal]] loss
**Unprovoked thrombosis at an early age (<40-55 for venous thrombosis and <50-55 for arterial thrombosis)
*History of [[warfarin_necrosis|warfarin skin necrosis]]
**Recurrent thrombosis including [[Deep venous thrombosis]], [[Pulmonary embolus]], or superficial venous thrombosis
 
**Thrombosis at multiple sites, or unusual locations including in cerebral, hepatic, portal, mesenteric, and renal veins
===Table 1: Differentiating different thrombophilias on the basis of symptoms, physical examination, and laboratory findings===
**Thrombosis in arteries with the abscence of [[Peripheral_arterial_disease|arterial disease]]  
 
**History of fetal loss
{| class="wikitable"
**History of [[Warfarin_necrosis|warfarin skin necrosis]]  
|-
! Characteristics !! [[Antithrombin III deficiency]]<ref name="pmid19141163">{{cite journal |vauthors=Patnaik MM, Moll S |title=Inherited antithrombin deficiency: a review |journal=Haemophilia |volume=14 |issue=6 |pages=1229–39 |date=November 2008 |pmid=19141163 |doi=10.1111/j.1365-2516.2008.01830.x |url=}}</ref><ref name="Al HadidiWu2017">{{cite journal|last1=Al Hadidi|first1=Samer|last2=Wu|first2=Kristi|last3=Aburahma|first3=Ahmed|last4=Alamarat|first4=Zain|title=Family with clots: antithrombin deficiency|journal=BMJ Case Reports|year=2017|pages=bcr-2017-221556|issn=1757-790X|doi=10.1136/bcr-2017-221556}}</ref><ref name="pmid21772860">{{cite journal |vauthors=Konecny F |title=Inherited trombophilic states and pulmonary embolism |journal=J Res Med Sci |volume=14 |issue=1 |pages=43–56 |date=January 2009 |pmid=21772860 |pmc=3129068 |doi= |url=}}</ref> !! [[Factor V Leiden mutation]]<ref name="pmid20626623">{{cite journal |vauthors=Mannucci PM, Asselta R, Duga S, Guella I, Spreafico M, Lotta L, Merlini PA, Peyvandi F, Kathiresan S, Ardissino D |title=The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease |journal=J. Thromb. Haemost. |volume=8 |issue=10 |pages=2116–21 |date=October 2010 |pmid=20626623 |doi=10.1111/j.1538-7836.2010.03982.x |url=}}</ref><ref name="pmid27797270">{{cite journal |vauthors=Campello E, Spiezia L, Simioni P |title=Diagnosis and management of factor V Leiden |journal=Expert Rev Hematol |volume=9 |issue=12 |pages=1139–1149 |date=December 2016 |pmid=27797270 |doi=10.1080/17474086.2016.1249364 |url=}}</ref><ref name="pmid15003896">{{cite journal |vauthors=Van Rooden CJ, Rosendaal FR, Meinders AE, Van Oostayen JA, Van Der Meer FJ, Huisman MV |title=The contribution of factor V Leiden and prothrombin G20210A mutation to the risk of central venous catheter-related thrombosis |journal=Haematologica |volume=89 |issue=2 |pages=201–6 |date=February 2004 |pmid=15003896 |doi= |url=}}</ref><ref name="pmid23615845">{{cite journal| author=Dentali F, Pomero F, Borretta V, Gianni M, Squizzato A, Fenoglio L et al.| title=Location of venous thrombosis in patients with FVL or prothrombin G20210A mutations: systematic review and meta-analysis. | journal=Thromb Haemost | year= 2013 | volume= 110 | issue= 1 | pages= 191-4 | pmid=23615845 | doi=10.1160/TH13-02-0163 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23615845  }}</ref><ref name="pmid12421138">{{cite journal |vauthors=Press RD, Bauer KA, Kujovich JL, Heit JA |title=Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders |journal=Arch. Pathol. Lab. Med. |volume=126 |issue=11 |pages=1304–18 |date=November 2002 |pmid=12421138 |doi=10.1043/0003-9985(2002)126<1304:CUOFVL>2.0.CO;2 |url=}}</ref> !! [[Protein C deficiency]]<ref>{{Cite journal
| author = [[Bernard Khor]] & [[Elizabeth M. Van Cott]]
| title = Laboratory tests for protein C deficiency
| journal = [[American journal of hematology]]
| volume = 85
| issue = 6
| pages = 440–442
| year = 2010
| month = June
| doi = 10.1002/ajh.21679
| pmid = 20309856
}}</ref><ref name="pmid11336597">{{cite journal |vauthors=Pescatore SL |title=Clinical management of protein C deficiency |journal=Expert Opin Pharmacother |volume=2 |issue=3 |pages=431–9 |date=March 2001 |pmid=11336597 |doi=10.1517/14656566.2.3.431 |url=}}</ref><ref name=":0">{{Cite journal
| author = [[Gustavo A. Rodriguez-Leal]], [[Segundo Moran]], [[Roberto Corona-Cedillo]] & [[Rocio Brom-Valladares]]
| title = Portal vein thrombosis with protein C-S deficiency in a non-cirrhotic patient
| journal = [[World journal of hepatology]]
| volume = 6
| issue = 7
| pages = 532–537
| year = 2014
| month = July
| doi = 10.4254/wjh.v6.i7.532
| pmid = 25068006
}}</ref> !! [[Protein S deficiency]]<ref name=":0" /><ref>{{Cite journal
| author = [[Kristi J. Smock]], [[Elizabeth A. Plumhoff]], [[Piet Meijer]], [[Peihong Hsu]], [[Nicole D. Zantek]], [[Nahla M. Heikal]] & [[Elizabeth M. Van Cott]]
| title = Protein S testing in patients with protein S deficiency, factor V Leiden, and rivaroxaban by North American Specialized Coagulation Laboratories
| journal = [[Thrombosis and haemostasis]]
| volume = 116
| issue = 1
| pages = 50–57
| year = 2016
| month = July
| doi = 10.1160/TH15-12-0918
| pmid = 27075008
}}</ref><ref name="pmid21799399">{{cite journal |vauthors=Ji M, Yoon SN, Lee W, Jang S, Park SH, Kim DY, Chun S, Min WK |title=Protein S deficiency with a PROS1 gene mutation in a patient presenting with mesenteric venous thrombosis following total colectomy |journal=Blood Coagul. Fibrinolysis |volume=22 |issue=7 |pages=619–21 |date=October 2011 |pmid=21799399 |doi=10.1097/MBC.0b013e32834a0421 |url=}}</ref> !! [[Prothrombin gene mutation G20210A|Prothrombin gene mutation]]<ref name="pmid17474891">{{cite journal| author=Cooper PC, Rezende SM| title=An overview of methods for detection of factor V Leiden and the prothrombin G20210A mutations. | journal=Int J Lab Hematol | year= 2007 | volume= 29 | issue= 3 | pages= 153-62 | pmid=17474891 | doi=10.1111/j.1751-553X.2007.00892.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17474891  }}</ref><ref name="pmid12421139">{{cite journal| author=McGlennen RC, Key NS| title=Clinical and laboratory management of the prothrombin G20210A mutation. | journal=Arch Pathol Lab Med | year= 2002 | volume= 126 | issue= 11 | pages= 1319-25 | pmid=12421139 | doi=10.1043/0003-9985(2002)126<1319:CALMOT>2.0.CO;2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12421139  }}</ref><ref name="pmid236158452">{{cite journal| author=Dentali F, Pomero F, Borretta V, Gianni M, Squizzato A, Fenoglio L et al.| title=Location of venous thrombosis in patients with FVL or prothrombin G20210A mutations: systematic review and meta-analysis. | journal=Thromb Haemost | year= 2013 | volume= 110 | issue= 1 | pages= 191-4 | pmid=23615845 | doi=10.1160/TH13-02-0163 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23615845  }}</ref> !! [[Disseminated intravascular coagulation|Disseminated intravascular coagulation (DIC)]]<ref name="pmid25535423">{{cite journal |vauthors=Venugopal A |title=Disseminated intravascular coagulation |journal=Indian J Anaesth |volume=58 |issue=5 |pages=603–8 |date=September 2014 |pmid=25535423 |pmc=4260307 |doi=10.4103/0019-5049.144666 |url=}}</ref><ref name="pmid27276832">{{cite journal |vauthors=Makruasi N |title=Treatment of Disseminated Intravascular Coagulation |journal=J Med Assoc Thai |volume=98 Suppl 10 |issue= |pages=S45–51 |date=November 2015 |pmid=27276832 |doi= |url=}}</ref><ref name="pmid29178991">{{cite journal| author=Cui S, Fu Z, Feng Y, Xie X, Ma X, Liu T et al.| title=The disseminated intravascular coagulation score is a novel predictor for portal vein thrombosis in cirrhotic patients with hepatitis B. | journal=Thromb Res | year= 2018 | volume= 161 | issue=  | pages= 7-11 | pmid=29178991 | doi=10.1016/j.thromres.2017.11.010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29178991  }}</ref> !! [[Antiphospholipid  antibody syndrome]]<ref name="pmid24319251">{{cite journal |vauthors=Lim W |title=Antiphospholipid syndrome |journal=Hematology Am Soc Hematol Educ Program |volume=2013 |issue= |pages=675–80 |date=2013 |pmid=24319251 |doi=10.1182/asheducation-2013.1.675 |url=}}</ref><ref name="pmid19624461">{{cite journal |vauthors=Pengo V, Tripodi A, Reber G, Rand JH, Ortel TL, Galli M, De Groot PG |title=Update of the guidelines for lupus anticoagulant detection. Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibody of the Scientific and Standardisation Committee of the International Society on Thrombosis and Haemostasis |journal=J. Thromb. Haemost. |volume=7 |issue=10 |pages=1737–40 |date=October 2009 |pmid=19624461 |doi=10.1111/j.1538-7836.2009.03555.x |url=}}</ref><ref name="pmid243192512">{{cite journal| author=Lim W| title=Antiphospholipid syndrome. | journal=Hematology Am Soc Hematol Educ Program | year= 2013 | volume= 2013 | issue=  | pages= 675-80 | pmid=24319251 | doi=10.1182/asheducation-2013.1.675 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24319251  }}</ref><ref name="pmid29791828">{{cite journal| author=Garcia D, Erkan D| title=Diagnosis and Management of the Antiphospholipid Syndrome. | journal=N Engl J Med | year= 2018 | volume= 378 | issue= 21 | pages= 2010-2021 | pmid=29791828 | doi=10.1056/NEJMra1705454 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29791828  }}</ref><ref name="pmid23488294">{{cite journal| author=Kornacki J, Wirstlein P, Skrzypczak J| title=[Assessment of uterine arteries Doppler in the first half of pregnancy in women with thrombophilia]. | journal=Ginekol Pol | year= 2012 | volume= 83 | issue= 12 | pages= 916-21 | pmid=23488294 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23488294  }}</ref>
|-
| '''Symptoms of DVT''' ||  + ||  + ||  + ||  + ||  + ||  + ||  +
|-
| '''Symptoms of Pulmonary Embolism''' ||  + ||  + ||  + ||  + ||  + ||  + ||  +
|-
| '''Symptoms of Myocardial Infarction''' || - || + || - || - || - || +/- || +/-
|-
| '''Tenderness in extremities''' || + || + || + || + || + || + || +
|-
| '''Edema in extremities''' || + || + || + || + || + || + || +
|-
| '''Warmth in extremities''' || + || + || + || + || + || + || +
|-
| '''PT''' ||
*Normal
||
*N/A
||
*Normal
||
*Normal
||
*↑
||
*↑
||
*N/A
|-
| '''aPTT''' ||
*Normal
*Reduces the Increase in [[PTT]] after administration of [[heparin]]
||
*↑
||
*Normal / ↑
||
*Normal / ↑
||
*N/A
||
*↑
||
*↑
|-
| '''Doppler ultrasound''' ||
*Evidence of [[deep vein thrombosis]] ([[DVT]])
*Should be used for diagnosis and follow up
||
* Recommended to do weekly
* [[Proximal]] [[DVT]] is more commonly observed as compared to [[distal]] [[DVT]]
|| 
*[[Hypercoagulation]]
*Recurrent [[venous thromboembolism]]
||
*[[Hypercoagulation]]
*Recurrent [[venous thromboembolism]]
||
* [[Proximal]] [[DVT]] is more commonly observed as compared to [[distal]] [[DVT]]
||
* [[Portal vein thrombosis]] is observed in patients with coexistent [[hepatitis B]]
||
* Increased impedance of [[flow]] in [[uterine]] [[arteries]] at 12-20 weeks of [[gestation]]
|-
| '''Chest CT scan''' ||
*[[Occlusion]] of  [[brachiocephalic]] [[vein]]
*Large [[thrombus]] in [[superior vena cava]]
||
* [[Pulmonary embolism]]
||
* [[Venous thromboembolism]]
* [[Pulmonary embolism]]
||
* [[Pulmonary embolism]]
* [[Thrombosis]] of [[superior mesenteric vein]]
||
* [[Pulmonary embolism]]
||
* [[Pulmonary embolism]]
||
* [[Pulmonary embolism]]
|-
| '''Gold standard''' ||
*Decreased [[plasma]] [[Antithrombin III|antithrombin]] ([[AT III]]) activity
||
*N/A
||
* [[Protein C]] functional [[assay]]
* [[ELISA]] [[assay]]: may produce [[false positive]] result in cross reaction with [[rheumatoid factor]]
||
* [[Protein S]] free [[antigen]] [[assay]]
||
* Detection of [[mutation]] using [[restriction enzyme]] and [[PCR]]
* [[DNA testing]] for [[prothrombin G20210A mutation]]
||
* N/A
||
* [[Antiphospholipid antibody]]
* [[Anticardiolipin antibody]]
* [[Lupus anticoagulant]]
* Anti-β2GPI [[antibody]]
|-
| '''Additional findings''' ||
*[[Nephrotic syndrome]]
*Decreased inhibition of [[factor II]] and Xa
*[[Antithrombin]] is a natural [[anticoagulant]] that is lost in the [[urine]]
||
*Inactivates factor Va and factor VIIIa
||
* [[Factor VIII]] elevation in acute phase
* Functional [[assay]] should not be performed if patient is on [[warfarin]]
* [[Purpura fulminans]] ([[skin]] [[necrosis]]) could be a form of presentation
* Risk of [[thrombotic]] [[skin]] [[necrosis]] following [[warfarin]] administration
||
* When performing the gold standard test, beware of interference from samples positive for [[Factor V]] [[mutation]], [[protein C deficiency]] and oral [[anticoagulants]] ([[rivaroxaban]])
* Risk of [[thrombotic]] [[skin]] [[necrosis]] following [[warfarin]] administration
* Suspected in patients with a strong family history of [[VTE]]
* [[Post phlebitic syndrome]] 
* [[Fetal]] loss
||
* [[Mutation]] causes increased production of [[prothrombin]]
* Increased [[blood]] levels of [[prothrombin]] lead to [[venous]] clots in the [[circulatory system]]
* [[Hormonal]] [[oral contraceptive pills]] can increase the risk of [[VTE]]
||
* Elevated [[fibrin degradation products]] ([[D-dimers]])
* Decreased [[fibrinogen]]
* Decreased [[factor V]] and VIII
* Shistocytes (helmet [[cells]]) on [[peripheral blood smear]]
* [[Portal vein thrombosis]]
||
* Both, [[arterial]] and [[venous]] [[thrombosis]] can occur
* History of [[spontaneous abortions]]
* [[False positive]] [[VDRL]]
* [[Stroke]] and [[transient ischemic attack]] ([[TIA]]) are most common forms of presentation of [[arterial thrombosis]]
|}


==References==
==References==
{{reflist|2}}
{{Reflist|2}}
 
[[Category:Hematology]]


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Latest revision as of 18:32, 26 February 2021

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2], Sogand Goudarzi, MD [3], Asiri Ediriwickrema, M.D., M.H.S. [4], Jaspinder Kaur, MBBS[5]

Overview

Thrombophilias must be differentiated from other diseases that cause the following clinical presentations: family history of thrombosis, especially at an early age (< 45 years), unprovoked thrombosis at an early age (<40-55 for venous thrombosis and <50-55 for arterial thrombosis), recurrent thrombosis including deep venous thrombosis, pulmonary embolism, or superficial venous thrombosis.

Differential Diagnosis

Thrombophilias must be differentiated from other diseases that cause the following clinical presentations:[1][2]

Table 1: Differentiating different thrombophilias on the basis of symptoms, physical examination, and laboratory findings

Characteristics Antithrombin III deficiency[3][4][5] Factor V Leiden mutation[6][7][8][9][10] Protein C deficiency[11][12][13] Protein S deficiency[13][14][15] Prothrombin gene mutation[16][17][18] Disseminated intravascular coagulation (DIC)[19][20][21] Antiphospholipid antibody syndrome[22][23][24][25][26]
Symptoms of DVT + + + + + + +
Symptoms of Pulmonary Embolism + + + + + + +
Symptoms of Myocardial Infarction - + - - - +/- +/-
Tenderness in extremities + + + + + + +
Edema in extremities + + + + + + +
Warmth in extremities + + + + + + +
PT
  • Normal
  • N/A
  • Normal
  • Normal
  • ↑
  • ↑
  • N/A
aPTT
  • Normal
  • Reduces the Increase in PTT after administration of heparin
  • ↑
  • Normal / ↑
  • Normal / ↑
  • N/A
  • ↑
  • ↑
Doppler ultrasound
Chest CT scan
Gold standard
  • N/A
  • N/A
Additional findings
  • Inactivates factor Va and factor VIIIa

References

  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.
  2. ↑ Seligsohn U, Lubetsky A (2001). "Genetic susceptibility to venous thrombosis". N Engl J Med. 344 (16): 1222–31. doi:10.1056/NEJM200104193441607. PMID 11309638.
  3. ↑ Patnaik MM, Moll S (November 2008). "Inherited antithrombin deficiency: a review". Haemophilia. 14 (6): 1229–39. doi:10.1111/j.1365-2516.2008.01830.x. PMID 19141163.
  4. ↑ Al Hadidi, Samer; Wu, Kristi; Aburahma, Ahmed; Alamarat, Zain (2017). "Family with clots: antithrombin deficiency". BMJ Case Reports: bcr-2017–221556. doi:10.1136/bcr-2017-221556. ISSN 1757-790X.
  5. ↑ Konecny F (January 2009). "Inherited trombophilic states and pulmonary embolism". J Res Med Sci. 14 (1): 43–56. PMC 3129068. PMID 21772860.
  6. ↑ Mannucci PM, Asselta R, Duga S, Guella I, Spreafico M, Lotta L, Merlini PA, Peyvandi F, Kathiresan S, Ardissino D (October 2010). "The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease". J. Thromb. Haemost. 8 (10): 2116–21. doi:10.1111/j.1538-7836.2010.03982.x. PMID 20626623.
  7. ↑ Campello E, Spiezia L, Simioni P (December 2016). "Diagnosis and management of factor V Leiden". Expert Rev Hematol. 9 (12): 1139–1149. doi:10.1080/17474086.2016.1249364. PMID 27797270.
  8. ↑ Van Rooden CJ, Rosendaal FR, Meinders AE, Van Oostayen JA, Van Der Meer FJ, Huisman MV (February 2004). "The contribution of factor V Leiden and prothrombin G20210A mutation to the risk of central venous catheter-related thrombosis". Haematologica. 89 (2): 201–6. PMID 15003896.
  9. ↑ Dentali F, Pomero F, Borretta V, Gianni M, Squizzato A, Fenoglio L; et al. (2013). "Location of venous thrombosis in patients with FVL or prothrombin G20210A mutations: systematic review and meta-analysis". Thromb Haemost. 110 (1): 191–4. doi:10.1160/TH13-02-0163. PMID 23615845.
  10. ↑ Press RD, Bauer KA, Kujovich JL, Heit JA (November 2002). "Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders". Arch. Pathol. Lab. Med. 126 (11): 1304–18. doi:10.1043/0003-9985(2002)126<1304:CUOFVL>2.0.CO;2. PMID 12421138.
  11. ↑ Bernard Khor & Elizabeth M. Van Cott (2010). "Laboratory tests for protein C deficiency". American journal of hematology. 85 (6): 440–442. doi:10.1002/ajh.21679. PMID 20309856. Unknown parameter |month= ignored (help)
  12. ↑ Pescatore SL (March 2001). "Clinical management of protein C deficiency". Expert Opin Pharmacother. 2 (3): 431–9. doi:10.1517/14656566.2.3.431. PMID 11336597.
  13. ↑ 13.0 13.1 Gustavo A. Rodriguez-Leal, Segundo Moran, Roberto Corona-Cedillo & Rocio Brom-Valladares (2014). "Portal vein thrombosis with protein C-S deficiency in a non-cirrhotic patient". World journal of hepatology. 6 (7): 532–537. doi:10.4254/wjh.v6.i7.532. PMID 25068006. Unknown parameter |month= ignored (help)
  14. ↑ Kristi J. Smock, Elizabeth A. Plumhoff, Piet Meijer, Peihong Hsu, Nicole D. Zantek, Nahla M. Heikal & Elizabeth M. Van Cott (2016). "Protein S testing in patients with protein S deficiency, factor V Leiden, and rivaroxaban by North American Specialized Coagulation Laboratories". Thrombosis and haemostasis. 116 (1): 50–57. doi:10.1160/TH15-12-0918. PMID 27075008. Unknown parameter |month= ignored (help)
  15. ↑ Ji M, Yoon SN, Lee W, Jang S, Park SH, Kim DY, Chun S, Min WK (October 2011). "Protein S deficiency with a PROS1 gene mutation in a patient presenting with mesenteric venous thrombosis following total colectomy". Blood Coagul. Fibrinolysis. 22 (7): 619–21. doi:10.1097/MBC.0b013e32834a0421. PMID 21799399.
  16. ↑ Cooper PC, Rezende SM (2007). "An overview of methods for detection of factor V Leiden and the prothrombin G20210A mutations". Int J Lab Hematol. 29 (3): 153–62. doi:10.1111/j.1751-553X.2007.00892.x. PMID 17474891.
  17. ↑ McGlennen RC, Key NS (2002). "Clinical and laboratory management of the prothrombin G20210A mutation". Arch Pathol Lab Med. 126 (11): 1319–25. doi:10.1043/0003-9985(2002)126<1319:CALMOT>2.0.CO;2. PMID 12421139.
  18. ↑ Dentali F, Pomero F, Borretta V, Gianni M, Squizzato A, Fenoglio L; et al. (2013). "Location of venous thrombosis in patients with FVL or prothrombin G20210A mutations: systematic review and meta-analysis". Thromb Haemost. 110 (1): 191–4. doi:10.1160/TH13-02-0163. PMID 23615845.
  19. ↑ Venugopal A (September 2014). "Disseminated intravascular coagulation". Indian J Anaesth. 58 (5): 603–8. doi:10.4103/0019-5049.144666. PMC 4260307. PMID 25535423.
  20. ↑ Makruasi N (November 2015). "Treatment of Disseminated Intravascular Coagulation". J Med Assoc Thai. 98 Suppl 10: S45–51. PMID 27276832.
  21. ↑ Cui S, Fu Z, Feng Y, Xie X, Ma X, Liu T; et al. (2018). "The disseminated intravascular coagulation score is a novel predictor for portal vein thrombosis in cirrhotic patients with hepatitis B." Thromb Res. 161: 7–11. doi:10.1016/j.thromres.2017.11.010. PMID 29178991.
  22. ↑ Lim W (2013). "Antiphospholipid syndrome". Hematology Am Soc Hematol Educ Program. 2013: 675–80. doi:10.1182/asheducation-2013.1.675. PMID 24319251.
  23. ↑ Pengo V, Tripodi A, Reber G, Rand JH, Ortel TL, Galli M, De Groot PG (October 2009). "Update of the guidelines for lupus anticoagulant detection. Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibody of the Scientific and Standardisation Committee of the International Society on Thrombosis and Haemostasis". J. Thromb. Haemost. 7 (10): 1737–40. doi:10.1111/j.1538-7836.2009.03555.x. PMID 19624461.
  24. ↑ Lim W (2013). "Antiphospholipid syndrome". Hematology Am Soc Hematol Educ Program. 2013: 675–80. doi:10.1182/asheducation-2013.1.675. PMID 24319251.
  25. ↑ Garcia D, Erkan D (2018). "Diagnosis and Management of the Antiphospholipid Syndrome". N Engl J Med. 378 (21): 2010–2021. doi:10.1056/NEJMra1705454. PMID 29791828.
  26. ↑ Kornacki J, Wirstlein P, Skrzypczak J (2012). "[Assessment of uterine arteries Doppler in the first half of pregnancy in women with thrombophilia]". Ginekol Pol. 83 (12): 916–21. PMID 23488294.

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