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Thrombophilia



Thrombophilia
Classification & external resources
OMIM 188050
DiseasesDB 29080
MeSH D019851

Thrombophilia is the propensity to develop thrombosis (blood clots) due to an abnormality in the system of coagulation.

Additional recommended knowledge

Contents

Indications

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, recurrent miscarriage is seen as an indication for thrombophilia screening. [1]

Classification

Thrombophilia can be classified in various forms.

  • The most common classification is by the nature of the thrombosis: arterial, 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.[2]
  • Acquired vs. congenital

Types

Common types:

Rare forms:

Testing

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 prothrombin mutation. Many laboratories add on various other tests, depending on local policy and guidelines.

References

  1. ^ Dawood, F., Farquharson, R., Quenby, S. Recurrent miscarriage. Current Obstetrics & Gynaecology, 2004; 14:247-253.
  2. ^ Crowther MA, Kelton JG (2003). "Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification system". Ann. Intern. Med. 138 (2): 128-34. PMID 12529095.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Thrombophilia". A list of authors is available in Wikipedia.
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