Thrombophilia natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Asiri Ediriwickrema, M.D., M.H.S. [2]
Overview
Natural History
- Refer to the clinical symptoms section regarding early clinical features of patients with thrombophilia.
- Annual thrombotic risks are variable and depend on the underlying thrombophilia[1].
- If left untreated, the annual incidence of incident thrombosis in asymptomatic patients with factor V leidin and prothrombin G20210A (<0.02%) is low[2]. The risk is approximately equivalent to treatment with oral contraceptives (OCPs). Whereas the annual incidence of significant bleeds is approximately 2-3%[3].
- Studies performed by Christiansen et al and Baglin et al did revealed that inherited thrombophilia did not predict for recurrent thrombosis[4][5].
- OCPs, hormone replacement therapy, and pregnancy can significantly increase thrombotic risk in patients with thrombophilia[6].
- Certain high risk thrombophilias require indefinate anticoagulation.
Complications
| Thrombophilic state | Thrombotic risk[2] |
|---|---|
| Trauma/General surgery | Modest |
| Age > 60 | Modest |
| Immobilization | Modest |
| Pregnancy | Modest |
| Hormone therapies | Modest |
| Factor V Leiden heterozygosity | Modest |
| Prothrombin mutation | Modest |
| Homocysteinemia | Modest |
| Increased factor VIII levels | Modest |
| Increased factor IX levels | Modest |
| Increased factor XI levels | Modest |
| Protein C and S deficiency | Intermediate |
| Dysfibrogenemia | Intermediate |
| Malignancy | High |
| APLS/Lupus anticoagulant | High |
| Myeloproliferative disorders/hyperviscosity | High |
| PNH | High |
| Orthopedic surgery | High |
| Antithrombin deficiency | High |
| Factor V Leiden homozygosity | High |
Prognosis
- Certain thrombophilic conditions are high risk and require consideration for lifelong anticoagulation. Expert consultation is recommended.
| Possible indications for lifelong/prophylactic anticoagulation |
|---|
| Antiphospholipid syndrome |
| Paroxysmal nocturnal hemoglobinuria |
| Recurrent thrombosis regardless of underlying thrombophilia |
| History of life-threatening thrombosis or atypical locations |
| Malignancy with history of thrombosis |
References
- ↑ Bauer KA (2001). "The thrombophilias: well-defined risk factors with uncertain therapeutic implications". Ann Intern Med. 135 (5): 367–73. PMID 11529700.
- ↑ 2.0 2.1 Bates SM, Ginsberg JS (2004). "Clinical practice. Treatment of deep-vein thrombosis". N Engl J Med. 351 (3): 268–77. doi:10.1056/NEJMcp031676. PMID 15254285.
- ↑ Linkins LA, Choi PT, Douketis JD (2003). "Clinical impact of bleeding in patients taking oral anticoagulant therapy for venous thromboembolism: a meta-analysis". Ann Intern Med. 139 (11): 893–900. PMID 14644891.
- ↑ Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR (2005). "Thrombophilia, clinical factors, and recurrent venous thrombotic events". JAMA. 293 (19): 2352–61. doi:10.1001/jama.293.19.2352. PMID 15900005. Review in: Evid Based Med. 2006 Apr;11(2):59
- ↑ Baglin T, Luddington R, Brown K, Baglin C (2003). "Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study". Lancet. 362 (9383): 523–6. doi:10.1016/S0140-6736(03)14111-6. PMID 12932383.
- ↑ Dalen JE (2008). "Should patients with venous thromboembolism be screened for thrombophilia?". Am J Med. 121 (6): 458–63. doi:10.1016/j.amjmed.2007.10.042. PMID 18501222.