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. 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]]. | [[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 which [[Organ (anatomy)|organ]] is involved. | ||
==Causes== | ==Causes== | ||
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===Common Causes=== | ===Common Causes=== | ||
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> | 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="pmid33108787">{{cite journal| author=Femi-Akinlosotu OM, Shokunbi MT| title=Changes in Neuronal Density of the Sensorimotor Cortex and Neurodevelopmental Behaviour in Neonatal Mice with Kaolin-Induced Hydrocephalus. | journal=Pediatr Neurosurg | year= 2020 | volume= | issue= | pages= 1-10 | pmid=33108787 | doi=10.1159/000510603 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33108787 }} </ref> | ||
* [[Protein C deficiency]] (most common cause of [[Heredity|inherited]] [[Thrombophilia|hypercoagulable state]]) | |||
* [[Thrombin|Prothrombin gene mutation]] such as [[thrombin|Prothrombin G20210A]], which is the second most common cause of [[Heredity|inherited]] [[Thrombophilia|hypercoagulable state]] | |||
* [[Factor V Leiden]] | * [[Factor V Leiden]] | ||
* [[Protein S deficiency]] | * [[Protein S deficiency]] | ||
* [[Antithrombin deficiency]] | * [[Antithrombin deficiency]] | ||
* [[medication|Medications]] such as [[Oral contraceptive|oral contraceptives]] | * [[medication|Medications]] such as [[Oral contraceptive|combined oral contraceptives]], [[bevacizumab]], [[lenalidomide]], [[asparaginase]], [[erythropoietin]], [[raloxifene]], [[tamoxifen]], [[tranexamic acid]], [[heparin]], [[ethinylestradiol]] and [[hormone replacement therapy]] | ||
* [[Systemic lupus erythematosus]] | |||
* [[Pregnancy]] | |||
* [[Cancer|Malignancy]] | |||
===Less Common Causes=== | ===Less Common Causes=== | ||
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* [[Plasminogen]] deficiency | * [[Plasminogen]] deficiency | ||
* [[Lipoprotein(a)|Elevated Lipoprotein(a)]] | * [[Lipoprotein(a)|Elevated Lipoprotein(a)]] | ||
* [[Klinefelter syndrome]] | |||
* [[Polycythemia vera]] | |||
* [[Paroxysmal Nocturnal Hemoglobinuria]] | |||
* [[Antiphospholipid Syndrome]] | |||
* [[Chronic renal insufficiency]] | |||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 19:35, 28 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 and stroke. Most of patients with thrombophilia may remain asymptomatic until another thrombophilic condition has been added. symptoms are generally depended on which organ 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
- Malignancy
Less Common Causes
Less common causes include:[1][3]
- 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
- Antiphospholipid Syndrome
- 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.