Thrombophilia
| Thrombophilia | |
| OMIM | 188050 |
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| DiseasesDB | 29080 |
| MeSH | D019851 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-In-Chief: 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: 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.[1]
- Acquired vs. congenital
Pathophysiology
Epidemiology and Demographics
Risk factors
Causes
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.
Differential diagnosis of thrombophilia
(By organ system)
| Cardiovascular | Cerebral vein thrombosis |
| Chemical / poisoning | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | • Asparaginase • Bevacizumab • Combined oral contraceptive pill • Cyproterone • Diethylstilboestrol • Drospirenone • Eltrombopag • Erythropoietin • Ethinylestradiol • Fosfestrol • Granulocyte-macrophage colony stimulating factor • Heparin • Hormone replacement therapy • Lenalidomide • Peginesatide • Polyestradiol • Raloxifene • Strontium ranelate • Tamoxifen • Tobacco smoking • Tranexamic acid • Vorinostat |
| Ear Nose Throat | No underlying causes |
| Endocrine | No underlying causes |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | No underlying causes |
| Hematologic | No underlying causes |
| Iatrogenic | No underlying causes |
| Infectious Disease | No underlying causes |
| Musculoskeletal / Ortho | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional / Metabolic | No underlying causes |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | No underlying causes |
| Opthalmologic | No underlying causes |
| Overdose / Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal / Electrolyte | No underlying causes |
| Rheum / Immune / Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | 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, recurrent miscarriage is seen as an indication for thrombophilia screening. [2]
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.
Treatment
References
- ↑ 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.
- ↑ Dawood, F., Farquharson, R., Quenby, S.Recurrent miscarriage. Current Obstetrics & Gynaecology, 2004; 14:247-253.