Thrombophilia resident survival guide: Difference between revisions
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==Don'ts== | ==Don'ts== | ||
* Don't run [[genetics|genetical]] or [[antigen]] detecting tests as [[screening]] for [[thrombophilia]].<ref name="pmid33127439">{{cite journal| author=Lybeck A, Friberg H, Nielsen N, Rundgren M, Ullén S, Zetterberg H | display-authors=etal| title=Postanoxic electrographic status epilepticus and serum biomarkers of brain injury. | journal=Resuscitation | year= 2020 | volume= | issue= | pages= | pmid=33127439 | doi=10.1016/j.resuscitation.2020.10.027 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33127439 }} </ref> | * Don't run [[genetics|genetical]] or [[antigen]] detecting tests as [[screening]] for [[thrombophilia]].<ref name="pmid33127439">{{cite journal| author=Lybeck A, Friberg H, Nielsen N, Rundgren M, Ullén S, Zetterberg H | display-authors=etal| title=Postanoxic electrographic status epilepticus and serum biomarkers of brain injury. | journal=Resuscitation | year= 2020 | volume= | issue= | pages= | pmid=33127439 | doi=10.1016/j.resuscitation.2020.10.027 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33127439 }} </ref> | ||
* Don't prescribe [[anticoagulant]] [[prophylaxis]] for [[ | * Don't prescribe [[anticoagulant]] [[prophylaxis]] for [[asymptomatic]] [[patient|patients]] who have [[risk factor|risk factors]] for [[thrombophilia]]. Except [[factor V leiden]] which is recommended to receive [[prophylaxis]] when exposed to [[hemostatic]] stressors such as [[surgery]], prolonged immobilization and [[pregnancy]] even in the absence of any clinical manifestations.<ref name="pmid22431530">{{cite journal| author=Ballard RB, Marques MB, Education Committee of the Academy of Clinical Laboratory Physicians and Scientists| title=Pathology consultation on the laboratory evaluation of thrombophilia: when, how, and why. | journal=Am J Clin Pathol | year= 2012 | volume= 137 | issue= 4 | pages= 553-60 | pmid=22431530 | doi=10.1309/AJCP5SQT3ZKYQFBM | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22431530 }} </ref> | ||
==References== | ==References== | ||
Revision as of 21:50, 5 November 2020
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anahita Deylamsalehi, M.D.[2]
Synonyms and keywords:Approach to thrombophilia, Thrombophilia workup, Thrombophilia diagnostic approach
Overview
Thrombophilia is defined as a predilection for clot formation (thrombosis). It could be inherited/genetical or acquired, nevertheless most of the time thrombophilia is due to an interplay between both inherited and acquired factors. Protein C deficiency is the most common cause of inherited thrombophilia. This clot formation tendency can lead to venous or arterial thrombus formation and subsequent conditions such as pulmonary embolism, deep venous thrombosis, pregnancy loss, severe pre-eclampsia, myocardial infarction and stroke. Most of patients with thrombophilia may remain asymptomatic until another thrombophilic condition has been added and patients with more than one inherited/genetical defects carry higher chance of thrombus formation. symptoms are generally depended on organ that is involved.
Causes
Known causes of thrombophilia include:[1][2][3][4][5][6]
- Protein C deficiency (most common cause of inherited hypercoagulable state)
- Prothrombin gene mutation such as Prothrombin G20210A, which is the second most common cause of inherited hypercoagulable state
- Factor V Leiden
- Protein S deficiency
- Antithrombin deficiency or antithrombin reduction due to liver disease and/or severe malnutrition
- Medications such as combined oral contraceptives, bevacizumab, lenalidomide, asparaginase, erythropoietin, raloxifene, tamoxifen, tranexamic acid, heparin, ethinylestradiol and hormone replacement therapy
- Elevation in some coagulation factors such as VII, VIII, IX and XI
- Dysfibrinogenemia
- Hyperhomocysteinemia and Methylenetetrahydrofolate mutation
- Plasminogen deficiency
- Elevated Lipoprotein(a)
- Klinefelter syndrome
- Polycythemia vera
- Myeloproliferative neoplasm
- Paroxysmal Nocturnal Hemoglobinuria
- Sickle cell disease
- Chronic renal insufficiency
- Systemic lupus erythematosus
- Pregnancy
- Antiphospholipid Syndrome
- Malignancy
Diagnosis
Shown below is an algorithm summarizing the diagnosis of [[disease name]] according the the [...] guidelines.
Treatment
Shown below is an algorithm summarizing the treatment of [[disease name]] according the the [...] guidelines.
Do's
- Do thrombophilia plasma tests at least 6 months after the acute thrombotic episode due to effect of acute thromboembolic event on these tests. Moreover, since oral anticoagulants given after acute thrombotic episode affect the results of testing for protein C, protein S, antithrombin deficiency and activated protein C resistance (APC resistance), it is recommended to do laboratory tests at least 2 weeks after oral anticoagulants discontinuation.[7]
- Run factor VIII test at least 6 weeks postpartum if factor VIII elevation is suspected in a pregnant patient with thrombophilia.[8]
- Test first degree relatives of a patient with confirmed genetical etiology of thrombophilia.[7]
Don'ts
- Don't run genetical or antigen detecting tests as screening for thrombophilia.[7]
- Don't prescribe anticoagulant prophylaxis for asymptomatic patients who have risk factors for thrombophilia. Except factor V leiden which is recommended to receive prophylaxis when exposed to hemostatic stressors such as surgery, prolonged immobilization and pregnancy even in the absence of any clinical manifestations.[8]
References
- ↑ Khan S, Dickerman JD (2006). "Hereditary thrombophilia". Thromb J. 4: 15. doi:10.1186/1477-9560-4-15. PMC 1592479. PMID 16968541.
- ↑ Femi-Akinlosotu OM, Shokunbi MT (2020). "Changes in Neuronal Density of the Sensorimotor Cortex and Neurodevelopmental Behaviour in Neonatal Mice with Kaolin-Induced Hydrocephalus". Pediatr Neurosurg: 1–10. doi:10.1159/000510603. PMID 33108787 Check
|pmid=value (help). - ↑ Rey E, Kahn SR, David M, Shrier I (2003). "Thrombophilic disorders and fetal loss: a meta-analysis". Lancet. 361 (9361): 901–8. doi:10.1016/S0140-6736(03)12771-7. PMID 12648968.
- ↑ Wun T, Brunson A (2016). "Sickle cell disease: an inherited thrombophilia". Hematology Am Soc Hematol Educ Program. 2016 (1): 640–647. doi:10.1182/asheducation-2016.1.640. PMC 6142455. PMID 27913540.
- ↑ Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R; et al. (2005). "Diagnosis and management of paroxysmal nocturnal hemoglobinuria". Blood. 106 (12): 3699–709. doi:10.1182/blood-2005-04-1717. PMC 1895106. PMID 16051736.
- ↑ McMahon C, Abu-Elmagd K, Bontempo FA, Kant JA, Swerdlow SH (2007). "JAK2 V617F mutation in patients with catastrophic intra-abdominal thromboses". Am J Clin Pathol. 127 (5): 736–43. doi:10.1309/JA1WD8JNVLGYNQYE. PMID 17439832.
- ↑ 7.0 7.1 7.2 Lybeck A, Friberg H, Nielsen N, Rundgren M, Ullén S, Zetterberg H; et al. (2020). "Postanoxic electrographic status epilepticus and serum biomarkers of brain injury". Resuscitation. doi:10.1016/j.resuscitation.2020.10.027. PMID 33127439 Check
|pmid=value (help). - ↑ 8.0 8.1 Ballard RB, Marques MB, Education Committee of the Academy of Clinical Laboratory Physicians and Scientists (2012). "Pathology consultation on the laboratory evaluation of thrombophilia: when, how, and why". Am J Clin Pathol. 137 (4): 553–60. doi:10.1309/AJCP5SQT3ZKYQFBM. PMID 22431530.