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Obstetric implications of activated protein C resistance and factor V Leiden mutation
1Division of Maternal/Fetal Medicine, Portsmouth Naval Hospital, Virginia 23708-2197, USA. ghermtoo@aol.com
Insights
Activated protein C resistance (APCR), often due to the factor V Leiden mutation, is a major genetic risk for blood clots. Emerging research links APCR to pregnancy complications like hypertensive disorders and placental issues.
Area of Science:
- Hematology
- Genetics
- Obstetrics
Background:
- Activated protein C resistance (APCR) is the most common genetic risk factor for thromboembolic disease.
- Over 90% of APCR cases stem from the factor V Leiden mutation.
- The factor V Leiden mutation involves a specific gene substitution (G1691A) leading to an amino acid change (Q506R).
Purpose of the Study:
- To summarize the significance of APCR and the factor V Leiden mutation.
- To highlight the association between APCR/factor V Leiden and adverse pregnancy outcomes.
Main Methods:
- Literature review and synthesis of existing research findings.
- Analysis of genetic data related to factor V Leiden mutation.
- Epidemiological data review on pregnancy complications.
Main Results:
- Activated protein C resistance is a leading identifiable cause of thrombosis.
- The factor V Leiden mutation is the primary genetic cause of APCR.
- Evidence suggests a link between APCR/factor V Leiden and conditions such as hypertensive disorders of pregnancy, miscarriage, placental infarction, and abruption.
Conclusions:
- Activated protein C resistance, particularly due to factor V Leiden, is a critical factor in thrombosis.
- Further investigation into the APCR-pregnancy complication link is warranted.
- Understanding this genetic risk is vital for managing thromboembolic and obstetric conditions.
Abstract:
An increasing number of reports have focused on activated protein C resistance (APCR) as it has been shown not only to be the most common genetic factor predisposing patients to thromboembolic disease but the most common identifiable cause overall. More than 90 percent of the cases of APCR are caused by the factor V Leiden mutation, in which a guanine to adenine substitution in the factor V gene at nucleotide position 1691 results in a glutamine to arginine switch at position 506. Recent studies have also pointed to evidence of an association between APCR/factor V Leiden mutation and hypertensive disorders of pregnancy, first and second trimester miscarriage, placental infarction, and placental abruption.