Thrombophilia
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| Thrombophilia Classification and external resources | |
| OMIM | 188050 |
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| DiseasesDB | 29080 |
| MeSH | D019851 |
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US National Guidelines Clearinghouse on Thrombophilia NICE Guidance on Thrombophilia
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Synonyms: Hypercoagulability, coagulability, hypercoagulable state
Thrombophilia is the propensity to develop thrombosis (blood clots) due to an abnormality in the system of coagulation.
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:
- 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
- Renal disease (renal loss of antithrombin)
Rare forms:
- Plasminogen and fibrinolysis disorders.
- Paroxysmal nocturnal hemoglobinuria
- Protein C deficiency.
- Protein S deficiency.
- Antithrombin III deficiency.
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
- ↑ Dawood, F., Farquharson, R., Quenby, S. Recurrent miscarriage. Current Obstetrics & Gynaecology, 2004; 14:247-253.
- ↑ 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.
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
