Thrombophilia resident survival guide: Difference between revisions
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==Overview== | ==Overview== | ||
[[Thrombophilia]] is defined as a predilection for [[Thrombus|clot formation]] ([[thrombosis]]). It could be [[Heredity|inherited]] 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]] and [[stroke]]. Most of [[patient|patients]] with [[thrombophilia]] may remain [[symptom|asymptomatic]] until another [[thrombophilia|thrombophilic]] condition has been added. [[Symptom|symptoms]] are generally depended on | [[Thrombophilia]] is defined as a predilection for [[Thrombus|clot formation]] ([[thrombosis]]). It could be [[Heredity|inherited]] 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]], [[myocardial infarction]] and [[stroke]]. Most of [[patient|patients]] with [[thrombophilia]] may remain [[symptom|asymptomatic]] until another [[thrombophilia|thrombophilic]] condition has been added. [[Symptom|symptoms]] are generally depended on [[Organ (anatomy)|organ]] that is involved. | ||
==Causes== | ==Causes== | ||
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* [[Systemic lupus erythematosus]] | * [[Systemic lupus erythematosus]] | ||
* [[Pregnancy]] | * [[Pregnancy]] | ||
* [[Antiphospholipid Syndrome]] | |||
* [[Cancer|Malignancy]] | * [[Cancer|Malignancy]] | ||
===Less Common Causes=== | ===Less Common Causes=== | ||
Less common causes include:<ref name="pmid16968541">{{cite journal| author=Khan S, Dickerman JD| title=Hereditary thrombophilia. | journal=Thromb J | year= 2006 | volume= 4 | issue= | pages= 15 | pmid=16968541 | doi=10.1186/1477-9560-4-15 | pmc=1592479 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16968541 }} </ref><ref name="pmid12648968">{{cite journal| author=Rey E, Kahn SR, David M, Shrier I| title=Thrombophilic disorders and fetal loss: a meta-analysis. | journal=Lancet | year= 2003 | volume= 361 | issue= 9361 | pages= 901-8 | pmid=12648968 | doi=10.1016/S0140-6736(03)12771-7 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12648968 }} </ref> | Less common causes include:<ref name="pmid16968541">{{cite journal| author=Khan S, Dickerman JD| title=Hereditary thrombophilia. | journal=Thromb J | year= 2006 | volume= 4 | issue= | pages= 15 | pmid=16968541 | doi=10.1186/1477-9560-4-15 | pmc=1592479 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16968541 }} </ref><ref name="pmid12648968">{{cite journal| author=Rey E, Kahn SR, David M, Shrier I| title=Thrombophilic disorders and fetal loss: a meta-analysis. | journal=Lancet | year= 2003 | volume= 361 | issue= 9361 | pages= 901-8 | pmid=12648968 | doi=10.1016/S0140-6736(03)12771-7 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12648968 }} </ref><ref name="pmid27913540">{{cite journal| author=Wun T, Brunson A| title=Sickle cell disease: an inherited thrombophilia. | journal=Hematology Am Soc Hematol Educ Program | year= 2016 | volume= 2016 | issue= 1 | pages= 640-647 | pmid=27913540 | doi=10.1182/asheducation-2016.1.640 | pmc=6142455 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27913540 }} </ref> | ||
* Elevation in some [[Coagulation|coagulation factors]] such as [[Factor VIII|VIII]], [[Factor IX|IX]] and [[Factor XI|XI]] | * Elevation in some [[Coagulation|coagulation factors]] such as [[Factor VIII|VIII]], [[Factor IX|IX]] and [[Factor XI|XI]] | ||
* [[Fibrinogen|Dysfibrinogenemia]] | * [[Fibrinogen|Dysfibrinogenemia]] | ||
| Line 37: | Line 38: | ||
* [[Polycythemia vera]] | * [[Polycythemia vera]] | ||
* [[Paroxysmal Nocturnal Hemoglobinuria]] | * [[Paroxysmal Nocturnal Hemoglobinuria]] | ||
* [[ | * [[Sickle cell disease]] | ||
* [[Chronic renal insufficiency]] | * [[Chronic renal insufficiency]] | ||
Revision as of 20:26, 30 October 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:
Overview
Thrombophilia is defined as a predilection for clot formation (thrombosis). It could be inherited 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, myocardial infarction and stroke. Most of patients with thrombophilia may remain asymptomatic until another thrombophilic condition has been added. symptoms are generally depended on organ that is involved.
Causes
Life Threatening Causes
Life-threatening causes include conditions that may result in death or permanent disability within 24 hours if left untreated.
Common Causes
- 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
- Medications such as combined oral contraceptives, bevacizumab, lenalidomide, asparaginase, erythropoietin, raloxifene, tamoxifen, tranexamic acid, heparin, ethinylestradiol and hormone replacement therapy
- Systemic lupus erythematosus
- Pregnancy
- Antiphospholipid Syndrome
- Malignancy
Less Common Causes
Less common causes include:[1][3][4]
- Elevation in some coagulation factors such as 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
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
- The content in this section is in bullet points.
Don'ts
- The content in this section is in bullet points.
References
- ↑ 1.0 1.1 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.