Thrombophilia differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
[[Image:Home_logo1.png|right|250px|link=http://www.wikidoc.org/index.php/Thrombophilia]] | [[Image:Home_logo1.png|right|250px|link=http://www.wikidoc.org/index.php/Thrombophilia]] | ||
{{CMG}}; {{AE}} {{MKA}}, {{S.G.}}, {{asiri}} | {{CMG}}; {{AE}} {{MKA}}, {{S.G.}}, {{asiri}}, {{JK}} | ||
==Overview== | ==Overview== | ||
| Line 16: | Line 16: | ||
*History of [[warfarin_necrosis|warfarin skin necrosis]] | *History of [[warfarin_necrosis|warfarin skin necrosis]] | ||
===Differentiating different thrombophilias on the basis of symptoms, physical examination, and laboratory findings=== | ===Table 1: Differentiating different thrombophilias on the basis of symptoms, physical examination, and laboratory findings=== | ||
{| class="wikitable" | {| class="wikitable" | ||
| Line 280: | Line 59: | ||
| '''Symptoms of Pulmonary Embolism''' || + || + || + || + || + || + || + | | '''Symptoms of Pulmonary Embolism''' || + || + || + || + || + || + || + | ||
|- | |- | ||
| '''Symptoms of Myocardial Infarction''' || - || + || - || | | '''Symptoms of Myocardial Infarction''' || - || + || - || - || - || +/- || +/- | ||
|- | |- | ||
| '''Tenderness in extremities''' || + || + || + || | | '''Tenderness in extremities''' || + || + || + || + || + || + || + | ||
|- | |- | ||
| '''Edema in extremities''' || + || + || + || | | '''Edema in extremities''' || + || + || + || + || + || + || + | ||
|- | |- | ||
| '''Warmth in extremities''' || + || + || + || | | '''Warmth in extremities''' || + || + || + || + || + || + || + | ||
|- | |- | ||
| '''PT''' || Normal || N/A || Normal || | | '''PT''' || | ||
*Normal | |||
|| | |||
*N/A | |||
|| | |||
*Normal | |||
|| | |||
*Normal | |||
|| | |||
*↑ | |||
|| | |||
*↑ | |||
|| | |||
*N/A | |||
|- | |- | ||
| '''aPTT''' || | | '''aPTT''' || | ||
*Normal | *Normal | ||
*Reduces the Increase in [[PTT]] after administration of [[heparin]] | *Reduces the Increase in [[PTT]] after administration of [[heparin]] | ||
|| ↑ | || | ||
|| Normal / ↑ | *↑ | ||
|| | || | ||
*Normal / ↑ | |||
|| | |||
*Normal / ↑ | |||
|| | |||
*N/A | |||
|| | |||
*↑ | |||
|| | |||
*↑ | |||
|- | |- | ||
| '''Doppler ultrasound''' || | | '''Doppler ultrasound''' || | ||
| Line 306: | Line 107: | ||
*[[Hypercoagulation]] | *[[Hypercoagulation]] | ||
*Recurrent [[venous thromboembolism]] | *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''' || | | '''Chest CT scan''' || | ||
| Line 313: | Line 122: | ||
|| | || | ||
* [[Pulmonary embolism]] | * [[Pulmonary embolism]] | ||
|| * [[Venous thromboembolism]] | || | ||
* [[Venous thromboembolism]] | |||
* [[Pulmonary embolism]] | * [[Pulmonary embolism]] | ||
|| | || | ||
* [[Pulmonary embolism]] | |||
* [[Thrombosis]] of [[superior mesenteric vein]] | |||
|| | |||
* [[Pulmonary embolism]] | |||
|| | |||
* [[Pulmonary embolism]] | |||
|| | |||
* [[Pulmonary embolism]] | |||
|- | |- | ||
| '''Gold standard''' || | | '''Gold standard''' || | ||
| Line 324: | Line 142: | ||
* [[Protein C]] functional [[assay]] | * [[Protein C]] functional [[assay]] | ||
* [[ELISA]] [[assay]]: may produce [[false positive]] result in cross reaction with [[rheumatoid factor]] | * [[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''' || | | '''Additional findings''' || | ||
| Line 332: | Line 161: | ||
|| | || | ||
*Inactivates factor Va and factor VIIIa | *Inactivates factor Va and factor VIIIa | ||
|| * [[Factor VIII]] elevation in acute phase | || | ||
* [[Factor VIII]] elevation in acute phase | |||
* Functional [[assay]] should not be performed if patient is on [[warfarin]] | * Functional [[assay]] should not be performed if patient is on [[warfarin]] | ||
* [[Purpura fulminans]] ([[skin]] [[necrosis]]) could be a form of presentation | * [[Purpura fulminans]] ([[skin]] [[necrosis]]) could be a form of presentation | ||
* Risk of [[thrombotic]] [[skin]] [[necrosis]] following [[warfarin]] administration | * 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]] | |||
|} | |} | ||
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]
- 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
- 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
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 |
|
|
|
|
|
|
|
| aPTT |
|
|
|
|
|
| |
| Doppler ultrasound |
|
|
|
|
|||
| Chest CT scan |
|
||||||
| Gold standard |
|
|
|
|
|
||
| Additional findings |
|
|
|
|
|
|
|
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.