Thrombophilia resident survival guide: Difference between revisions
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{{WikiDoc CMG}}; {{AE}} {{Anahita}} | {{WikiDoc CMG}}; {{AE}} {{Anahita}} | ||
{{SK}} | {{SK}}Approach to thrombophilia, Thrombophilia workup, Thrombophilia diagnostic approach | ||
==Overview== | ==Overview== | ||
[[Thrombophilia]] is defined as a predilection for [[Thrombus|clot formation]] ([[thrombosis]]). It could be [[Heredity|inherited]]/[[Genetics|genetical]] or acquired, nevertheless most of the time [[thrombophilia]] is due to an interplay between both [[Heredity|inherited]] and acquired factors. [[Protein C deficiency]] is the most common cause of [[Heredity|inherited]] [[thrombophilia]]. This [[Thrombus|clot formation]] tendency can lead to [[vein|venous]] [[thrombus]] formation and subsequent conditions such as [[pulmonary embolism]], [[deep venous thrombosis]], [[Miscarriage|pregnancy loss]], [[Pre-eclampsia|severe pre-eclampsia]], [[myocardial infarction]] and [[stroke]]. Most of [[patient|patients]] with [[thrombophilia]] may remain [[symptom|asymptomatic]] until another [[thrombophilia|thrombophilic]] condition has been added and [[patient|patients]] with more than one [[Heredity|inherited]]/[[Genetics|genetical]] defects carry higher chance of [[thrombus formation]]. [[Symptom|symptoms]] are generally depended on [[Organ (anatomy)|organ]] that is involved. | [[Thrombophilia]] is defined as a predilection for [[Thrombus|clot formation]] ([[thrombosis]]). It could be [[Heredity|inherited]]/[[Genetics|genetical]] or acquired, nevertheless most of the time [[thrombophilia]] is due to an interplay between both [[Heredity|inherited]] and acquired factors. [[Protein C deficiency]] is the most common cause of [[Heredity|inherited]] [[thrombophilia]]. This [[Thrombus|clot formation]] tendency can lead to [[vein|venous]] [[thrombus]] formation and subsequent conditions such as [[pulmonary embolism]], [[deep venous thrombosis]], [[Miscarriage|pregnancy loss]], [[Pre-eclampsia|severe pre-eclampsia]], [[myocardial infarction]] and [[stroke]]. Most of [[patient|patients]] with [[thrombophilia]] may remain [[symptom|asymptomatic]] until another [[thrombophilia|thrombophilic]] condition has been added and [[patient|patients]] with more than one [[Heredity|inherited]]/[[Genetics|genetical]] defects carry higher chance of [[thrombus formation]]. [[Symptom|symptoms]] are generally depended on [[Organ (anatomy)|organ]] that is involved. | ||
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==Do's== | ==Do's== | ||
* | * Do [[thrombophilia]] [[Blood plasma|plasma]] tests at least 6 months after the [[Thrombosis|acute thrombotic episode]] due to effect of [[Thrombosis|acute thromboembolic event]] on these tests. Moreover, since [[Anticoagulant|oral anticoagulants]] given after acute [[thrombosis|thrombotic episode]] affect the results of testing for [[protein C]], [[protein S]], and [[activated protein C resistance]] ([[Activated protein C resistance|APC resistance]]), it is recommended to do laboratory tests at least 2 weeks after [[Anticoagulant|oral anticoagulants]] discontinuation.<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'ts== | ==Don'ts== | ||
Revision as of 21:23, 2 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 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]
- 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
- 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, and activated protein C resistance (APC resistance), it is recommended to do laboratory tests at least 2 weeks after oral anticoagulants discontinuation.[5]
Don'ts
- The content in this section is in bullet points.
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.
- ↑ 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).