Thrombophilia differential diagnosis: Difference between revisions

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* [[False positive]] [[VDRL]]
* [[False positive]] [[VDRL]]
* [[Stroke]] and [[transient ischemic attack]] ([[TIA]]) are most common forms of presentation of [[arterial thrombosis]]
* [[Stroke]] and [[transient ischemic attack]] ([[TIA]]) are most common forms of presentation of [[arterial thrombosis]]
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! 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>
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Revision as of 17:21, 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]

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]

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

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


Characteristics Antithrombin III deficiency[3][4][5] Factor V Leiden mutation[6][7][8][9][10] Protein C deficiency[27][12][13] Protein S deficiency[13][28][15] Prothrombin gene mutation[16][17][18] Disseminated intravascular coagulation (DIC)[19][20][21] Antiphospholipid antibody syndrome[22][23][24][25][26]
Example Example Example Example Example Example Example Example
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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. ↑ 3.0 3.1 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. ↑ 4.0 4.1 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. ↑ 5.0 5.1 Konecny F (January 2009). "Inherited trombophilic states and pulmonary embolism". J Res Med Sci. 14 (1): 43–56. PMC 3129068. PMID 21772860.
  6. ↑ 6.0 6.1 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. ↑ 7.0 7.1 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. ↑ 8.0 8.1 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. ↑ 9.0 9.1 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. ↑ 10.0 10.1 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. ↑ 12.0 12.1 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 13.2 13.3 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. ↑ 15.0 15.1 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. ↑ 16.0 16.1 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. ↑ 17.0 17.1 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. ↑ 18.0 18.1 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. ↑ 19.0 19.1 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. ↑ 20.0 20.1 Makruasi N (November 2015). "Treatment of Disseminated Intravascular Coagulation". J Med Assoc Thai. 98 Suppl 10: S45–51. PMID 27276832.
  21. ↑ 21.0 21.1 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. ↑ 22.0 22.1 Lim W (2013). "Antiphospholipid syndrome". Hematology Am Soc Hematol Educ Program. 2013: 675–80. doi:10.1182/asheducation-2013.1.675. PMID 24319251.
  23. ↑ 23.0 23.1 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. ↑ 24.0 24.1 Lim W (2013). "Antiphospholipid syndrome". Hematology Am Soc Hematol Educ Program. 2013: 675–80. doi:10.1182/asheducation-2013.1.675. PMID 24319251.
  25. ↑ 25.0 25.1 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. ↑ 26.0 26.1 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.
  27. ↑ 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)
  28. ↑ 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)

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