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Congenital thrombophilia
1Department of Haematology, Glasgow Royal Infirmary, UK.
Insights
Heritable thrombophilia, including antithrombin (AT) deficiency and protein C/S (PC/PS) defects, increases pregnancy risks. Focus screening on symptomatic women and families for personalized management and prophylaxis.
Area of Science:
- Genetics
- Hematology
- Obstetrics
Background:
- Familial venous thrombosis is linked to heritable defects like antithrombin (AT), protein C (PC), and protein S (PS) deficiencies, and Factor V Leiden mutation.
- These defects elevate risks for pregnancy-associated venous thrombosis, fetal loss, and other vascular complications, particularly with AT deficiency.
- Congenital thrombophilia is increasingly viewed as a multigene defect, with AT or PC-PS system abnormalities representing only a portion of genetic predisposition in affected families.
Purpose of the Study:
- To review the association between heritable thrombophilia and pregnancy complications.
- To discuss current recommendations for screening and management of women with thrombophilia.
- To highlight the importance of individualized risk assessment and prophylaxis strategies.
Main Methods:
- Literature review of studies on heritable thrombophilia and pregnancy outcomes.
- Analysis of genetic defects associated with venous thrombosis.
- Evaluation of management strategies for pregnant women with thrombophilia.
Main Results:
- Heritable thrombophilia significantly increases risks of venous thrombosis, fetal loss, and vascular issues during pregnancy.
- Antithrombin deficiency poses the greatest risk among the studied defects.
- Current evidence suggests focusing screening and resources on symptomatic individuals and families rather than population-wide screening.
Conclusions:
- Screening women from symptomatic families for AT, PC, or PS deficiencies is recommended, ideally around puberty for education and counseling.
- Pregnancy planning and individualized management are crucial for women with thrombophilia.
- Anticoagulant prophylaxis strategies vary based on the specific defect, with AT deficiency often requiring lifelong prophylaxis, while PC/PS defects may necessitate targeted prophylaxis during late pregnancy and postpartum.
Abstract:
The heritable defects which are at present accepted as proven to be associated with familial venous thrombosis are deficiency of antithrombin (AT), protein C (PC) or protein S (PS) and the FV Leiden mutation. In women from symptomatic kindred each of these defects is associated with increased risk of pregnancy-associated venous thrombosis and increased risk of fetal loss and other vascular complications of pregnancy. The risks appear to be greatest for some types of AT deficiency. These defects are very common but there is growing evidence that congenital thrombophilia is a multigene defect and abnormalities of AT or of the PC-PS system represent only part of the genetic thrombotic predisposition in symptomatic families. Currently it seems reasonable to focus resources on women with AT or PC-PS system abnormalities who are themselves already symptomatic or who come from symptomatic families rather than screen whole populations for these defects. In symptomatic families screening of females around the time of puberty allows time for education and counselling. Pregnancies should be planned, and each pregnancy in each patient managed individually. In general though, women with AT deficiency from symptomatic families require anticoagulant prophylaxis throughout pregnancy and for at least 3 months post-partum, whereas those with PC-PS system defects may require third-trimester plus post-partum prophylaxis or post-partum anticoagulant prophylaxis only.