Thrombophilia differential diagnosis: Difference between revisions
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**The most common acquired thrombophilic states include [[surgery]], [[trauma]], or prolonged [[immobility]] | **The most common acquired thrombophilic states include [[surgery]], [[trauma]], or prolonged [[immobility]] | ||
*Inherited thrombophilias must be differentiated from other diseases that cause the following clinical presentations: | *Inherited 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> | ||
**Family history of thrombosis, especially at an early age (< 45 years) | **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) | **Unprovoked thrombosis at an early age (<40-55 for venous thrombosis and <50-55 for arterial thrombosis) | ||
Revision as of 20:10, 19 September 2018
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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
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 anticoagulation. Inherited thrombophilias should be suspected in patients with the certain clinical presentations.
Differential Diagnosis
- 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 anticoagulation
- The most common inherited thrombophilias include Factor V Leiden and Prothrombin G20210A
- The most common acquired thrombophilic states include surgery, trauma, or prolonged immobility
- Inherited thrombophilias must be differentiated from other diseases that cause the following clinical presentations:[1][2]
- 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 embolus, or superficial venous thrombosis
- Thrombosis at multiple sites, or unusual locations including in cerebral, hepatic, portal, mesenteric, and renal veins
- Thrombosis in arteries with the abscence of arterial disease
- History of fetal loss
- History of warfarin skin necrosis
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 deficiency[3][4][5] | + | + | - | + | + | + | Normal |
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| Factor V Leiden mutation[6][7][8][9][10] | + | + | + | + | + | + | N/A | ↑ |
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| Protein C deficiency[11][12][13] | + | + | - | + | + | + | Normal | Normal / ↑ |
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| Protein S deficiency[13][14][15] | + | + | - | + | + | + | Normal | Normal / ↑ |
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| Prothrombin gene mutation[16][17][18] | + | + | - | + | + | + | ↑ | N/A |
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| Disseminated intravascular coagulation (DIC)[19][20][21] | + | + | +/- | + | + | + | ↑ | ↑ |
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| Antiphospholipid antibody syndrome[22][23][24][25][26] | + | + | +/- | + | + | + | N/A | ↑ |
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References
- ↑ Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.
- ↑ Seligsohn U, Lubetsky A (2001). "Genetic susceptibility to venous thrombosis". N Engl J Med. 344 (16): 1222–31. doi:10.1056/NEJM200104193441607. PMID 11309638.
- ↑ 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.
- ↑ 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.
- ↑ Konecny F (January 2009). "Inherited trombophilic states and pulmonary embolism". J Res Med Sci. 14 (1): 43–56. PMC 3129068. PMID 21772860.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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) - ↑ 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.
- ↑ 13.0 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) - ↑ 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) - ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Venugopal A (September 2014). "Disseminated intravascular coagulation". Indian J Anaesth. 58 (5): 603–8. doi:10.4103/0019-5049.144666. PMC 4260307. PMID 25535423.
- ↑ Makruasi N (November 2015). "Treatment of Disseminated Intravascular Coagulation". J Med Assoc Thai. 98 Suppl 10: S45–51. PMID 27276832.
- ↑ 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.
- ↑ Lim W (2013). "Antiphospholipid syndrome". Hematology Am Soc Hematol Educ Program. 2013: 675–80. doi:10.1182/asheducation-2013.1.675. PMID 24319251.
- ↑ 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.
- ↑ Lim W (2013). "Antiphospholipid syndrome". Hematology Am Soc Hematol Educ Program. 2013: 675–80. doi:10.1182/asheducation-2013.1.675. PMID 24319251.
- ↑ 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.
- ↑ 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.