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{{Infobox_Disease |
__NOTOC__
  Name          = {{PAGENAME}} |
{{Thrombophilia}}
  Image          = |
{{CMG}}; {{AE}} [[User:Kashish Goel|Kashish Goel, M.D.]], {{asiri}},{{M.B}}, {{MKA}}, {{S.G.}}, {{JK}}
  Caption        = |
  DiseasesDB    = 29080 |
  ICD10          = |
  ICD9          = |
  ICDO          = |
  OMIM          = 188050 |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID        = D019851 |
}}
{{SI}}
{{CMG}} Kashish Goel|Kashish Goel M.D.


'''''Synonyms and Keywords:''''' Hypercoagulability, coagulability, hypercoagulable state
{{SK}} Hypercoagulability, coagulability, hypercoagulable state; thrombosis risk elevation; thrombotic tendency; prothrombotic state; clotting disorder; 


==Overview==
== [[Thrombophilia overview|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.


==Indications==
== [[Thrombophilia historical perspective|Historical Perspective]]==
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.
== [[Thrombophilia classification|Classification]] ==


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>
== [[Thrombophilia pathophysiology|Pathophysiology]] ==


==Classification==
== [[Thrombophilia causes|Causes]] ==
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


==Types==
== [[Thrombophilia differential diagnosis|Differentiating Thrombophilia from Other Diseases]] ==
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:
== [[Thrombophilia epidemiology and demographics|Epidemiology and Demographics]]==
* [[Plasminogen]] and [[fibrinolysis]] disorders.
* [[Paroxysmal nocturnal hemoglobinuria]]
* [[Protein C deficiency]].
* [[Protein S deficiency]].
* [[Antithrombin|Antithrombin III]] deficiency.


==Testing==
== [[Thrombophilia risk factors|Risk Factors]] ==
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.


==References==
== [[Thrombophilia screening|Screening]]==
<references/>


[[Category:Hematology]]
== [[Thrombophilia natural history, complications and prognosis|Natural History, Complications and Prognosis]] ==
 
== Diagnosis ==
[[Thrombophilia history and symptoms|History and Symptoms]] | [[Thrombophilia physical examination|Physical Examination]] | [[Thrombophilia laboratory findings|Laboratory Findings]] | [[Thrombophilia x ray|X Ray]] | [[Thrombophilia CT|CT]] | [[Thrombophilia MRI|MRI]] | [[Thrombophilia echocardiography or ultrasound|Ultrasound]] | [[Thrombophilia other imaging findings|Other Imaging Studies]] | [[Thrombophilia other diagnostic studies|Other Diagnostic Studies]]
 
== Treatment ==


[[de:Thrombophilie]]
[[Thrombophilia medical therapy|Medical Therapy]] | [[Thrombophilia surgery|Surgery]] | [[Thrombophilia primary prevention|Primary Prevention]] | [[Thrombophilia secondary prevention|Secondary Prevention]] | [[Thrombophilia future or investigational therapies|Future or Investigational Therapies]] | [[Thrombophilia cost-effectiveness of therapy | Cost Effectiveness of Therapy]]
[[fr:Thrombophilie]]
[[no:Trombofili]]
[[pl:Trombofilia]]


==Case Studies==
:[[Thrombophilia case study one|Case #1]]


[[Category:Hematology]]
[[Category:Disease]]
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Latest revision as of 07:24, 15 March 2021

Thrombophilia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Thrombophilia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Thrombophilia On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Thrombophilia

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Thrombophilia

CDC on Thrombophilia

Thrombophilia in the news

Blogs on Thrombophilia

Directions to Hospitals Treating Thrombophilia

Risk calculators and risk factors for Thrombophilia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Kashish Goel, M.D., Asiri Ediriwickrema, M.D., M.H.S. [2],Mohsen Basiri M.D., M. Khurram Afzal, MD [3], Sogand Goudarzi, MD [4], Jaspinder Kaur, MBBS[5]

Synonyms and keywords: Hypercoagulability, coagulability, hypercoagulable state; thrombosis risk elevation; thrombotic tendency; prothrombotic state; clotting disorder;

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Thrombophilia from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | X Ray | CT | MRI | Ultrasound | Other Imaging Studies | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Future or Investigational Therapies | Cost Effectiveness of Therapy

Case Studies

Case #1

Template:WH Template:WS

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