View source for Thrombophilia

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  DiseasesDB     = 29080 |
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  ICDO           = |
  OMIM           = 188050 |
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  MeshID         = D019851 |
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{{CMG}};'''Associate Editor(s)-In-Chief:''' [[Kashish Goel|Kashish Goel, M.D.]]

'''''Synonyms and Keywords:''''' Hypercoagulability, coagulability, hypercoagulable state

==Overview==
'''Thrombophilia''' means increased risk of [[thrombosis]] (blood clots) in the body, due to an abnormality in the system of [[coagulation]]. Thrombophilia can be congenital or acquired. Less than 50% of the cases of thrombosis not diagnosed with un underlying thrombophilia. 

==Classification==
Thrombophilia can be classified in various forms.
* The most common classification is by the nature of the thrombosis: [[artery|arterial]], [[vein|venous]] or combined.
* Crowther & Kelton (2003) propose to classify the abnormality by the molecular deficiency, type I being the (severe) deficiencies of inhibitors, and type II being the less severe elevation of coagulation factors.<ref>{{cite journal |author=Crowther MA, Kelton JG |title=Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification system |journal=Ann. Intern. Med. |volume=138 |issue=2 |pages=128-34|year=2003 |pmid=12529095 |doi= |url=http://www.annals.org/cgi/reprint/138/2/128}}</ref>
* Acquired vs. congenital

==Pathophysiology==

==Epidemiology and Demographics==

==Risk factors==

==Causes==
Common types:
* [[Factor V Leiden|Factor V, Leiden type]] (5% of the population are [[heterozygous]] for FVL).
* [[Prothrombin]] mutation (G20210A, 5'UTR).
* High [[homocysteine]] levels due to [[MTHFR]] mutation or vitamin deficiency (vitamins B6, B12 and folic acid).
* [[Antiphospholipid antibodies]]
** [[anti-cardiolipin antibodies]] and/or
** [[lupus anticoagulant]]s
* [[Kidney|Renal disease]] (renal loss of antithrombin)

Rare forms:
* [[Plasminogen]] and [[fibrinolysis]] disorders.
* [[Paroxysmal nocturnal hemoglobinuria]]
* [[Protein C deficiency]].
* [[Protein S deficiency]].
* [[Antithrombin|Antithrombin III]] deficiency.

==Differential diagnosis of thrombophilia==
(By organ system)
{|style="width:75%; height:100px" border="1"
|style="height:100px"; style="width:25%" border="1" bgcolor="LightSteelBlue" | '''Cardiovascular'''
|style="height:100px"; style="width:75%" border="1" bgcolor="Beige" | Cerebral vein thrombosis
|-
|-bgcolor="LightSteelBlue"
| '''Chemical / poisoning'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Dermatologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Drug Side Effect'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Ear Nose Throat'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Endocrine'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Environmental'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Gastroenterologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Genetic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Hematologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Iatrogenic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Infectious Disease'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Musculoskeletal / Ortho'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Neurologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Nutritional / Metabolic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Obstetric/Gynecologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Oncologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Opthalmologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Overdose / Toxicity'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Psychiatric'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Pulmonary'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Renal / Electrolyte'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Rheum / Immune / Allergy'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Sexual'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Trauma'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Urologic'''
|bgcolor="Beige"| No underlying causes
|-
|-bgcolor="LightSteelBlue"
| '''Miscellaneous'''
|bgcolor="Beige"| No underlying causes
|-
|}

==Indications for testing==
Searching for a coagulation abnormality is not normally undertaken in patients in whom thrombosis has an obvious other cause. For example, if the thrombosis is due to immobilisation after recent [[orthopedic surgery]], it is unlikely that an underlying cause is found.

Conversely, although thrombosis itself may occur in any person, repeated (two or more) unprovoked episodes of thrombosis and unusual sites and types of thrombosis (e.g. [[Budd-Chiari syndrome]]) may point towards a coagulation disorder.

Increasingly, [[habitual abortion|recurrent miscarriage]] is seen as an indication for thrombophilia screening. <ref>Dawood, F., Farquharson, R., Quenby, S.''Recurrent miscarriage.'' Current Obstetrics & Gynaecology, 2004; 14:247-253.</ref>

Tests for thrombophilia include [[prothrombin time]] and INR, [[partial thromboplastin time]], [[thrombin time]], [[fibrinogen]] levels, [[antiphospholipid antibody]] levels (IgG- and IgM-anticardiolipin, dilute Russell viper venom time and lupus anticoagulant), [[protein C]], [[protein S]] and [[antithrombin]] (both levels and activity), activated protein C resistance (APC resistance), [[factor V Leiden]] and [[thrombin|prothrombin]] mutation. Many laboratories add on various other tests, depending on local policy and guidelines.

==Treatment==

==References==
<references/>

[[Category:Hematology]]

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