Thrombophilia causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Causes
Inherited
In a cohort study. the population attributable risk of venous thromboembolism was:[1]
- 20% for ABO blood type
- 10% for factor V Leiden R506Q (Activated Protein C Resistance) via G1691A mutation
- 1% for prothrombin G20210A
Common types:
- G1691A mutation in factor V gene (Factor V, Leiden type; 5% of the population are heterozygous for FVL)
- Prothrombin (factor II) mutation (G20210A, 5'UTR)
- Homozygous C677T mutation in the MTHFR gene
Rare forms:
- Plasminogen and fibrinolysis disorders
- Paroxysmal nocturnal hemoglobinuria
- Protein C deficiency
- Protein S deficiency
- Antithrombin III deficiency
- Dysfibrinogenemia
- Homozygous homocystinuria
- Increased levels of factor VIII, factor IX, factor XI, or fibrinogen.
Acquired
- Antiphospholipid antibodies
- Renal disease (renal loss of antithrombin)
- High homocysteine levels due to vitamin deficiency (vitamins B6, B12 and folic acid).
- Immobility
- Pregnancy and puerperium
- Oral contraceptive pills
- Malignancy
- Obesity
- African American race
- Hormone replacement therapy
- Surgery and trauma
- Older age
- Myeloproliferative disorders
- Previous thrombosis
Causes of Thrombophilia by Organ System
References
- ↑ Sode BF, Allin KH, Dahl M, Gyntelberg F, Nordestgaard BG (2013). "Risk of venous thromboembolism and myocardial infarction associated with factor V Leiden and prothrombin mutations and blood type". CMAJ. 185 (5): E229–37. doi:10.1503/cmaj.121636. PMC 3602271. PMID 23382263.