Thrombophilia

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In hematology, thrombophilia, also called hypercoagulability, is "a disorder of hemostasis in which there is a tendency for the occurrence of thrombosis."[1]

Clinical

Recurrent embolism and thrombosis

For more information, see: Embolism and thrombosis.

Examples include prothrombin gene G-->A20210 mutation.[2]


Habitual abortion

Thrombophilia and habitual abortion.[3]
  Odds ratio
Early pregnancy loss
(before 13 weeks)
Late pregnancy loss
Factor V Leiden 2.01 (95% CI 1.13-3.58) 7.83 (95% CI 2.83-21.67)
Prothrombin G20210A 2.56 (95% CI 1.04-.29) 2.30 (95% CI 1.09-4.87)
(non-recurrent)
Protein C deficiency No association
Activated protein C resistance 3.48 (95% CI 1.58-7.69)
Protein S deficiency   7.39 (95% CI 1.28-42.63)
(nonrecurrent)
Methylenetetrahydrofolate reductase mutation No association
Antithrombin deficiencies No association

Thrombophilia have an increased risk of fetal loss, especially stillbirth after 28 weeks of gestation as opposed to miscarriage (spontaneous abortion) before 28 weeks of gestation[4]

Habitual abortion, the occurrence of three or more spontaneous abortions may be due to thrombophilia.[3]

The benefit of adding treatment with low molecular weight heparin to patients already taking aspirin is not clear.[5]

References

  1. Anonymous (2024), Thrombophilia (English). Medical Subject Headings. U.S. National Library of Medicine.
  2. Margaglione M, Brancaccio V, Giuliani N, D'Andrea G, Cappucci G, Iannaccone L et al. (1998). "Increased risk for venous thrombosis in carriers of the prothrombin G-->A20210 gene variant.". Ann Intern Med 129 (2): 89-93. PMID 9669991[e]
  3. 3.0 3.1 Rey E, Kahn SR, David M, Shrier I (2003). "Thrombophilic disorders and fetal loss: a meta-analysis.". Lancet 361 (9361): 901-8. DOI:10.1016/S0140-6736(03)12771-7. PMID 12648968. Research Blogging.
  4. Preston FE, Rosendaal FR, Walker ID, Briët E, Berntorp E, Conard J et al. (1996). "Increased fetal loss in women with heritable thrombophilia.". Lancet 348 (9032): 913-6. PMID 8843809.
  5. Laskin CA, Spitzer KA, Clark CA, Crowther MR, Ginsberg JS, Hawker GA et al. (2009). "Low molecular weight heparin and aspirin for recurrent pregnancy loss: results from the randomized, controlled HepASA Trial.". J Rheumatol 36 (2): 279-87. DOI:10.3899/jrheum.080763). PMID 19208560. Research Blogging.