Factor XI deficiency is an autosomal disorder that affects both men and women, and results in a bleeding disorder with a range of severity. It is not truly a recessive disorder, since some heterozygotes may have mild bleeding, while other mutations may lead to an autosomal dominant disease pattern.
Normal levels of factor XI range from 70 to 150 percent. Severe deficiency is defined as less than 15 percent and is usually caused by a homozygous mutation or compound heterozygosity. Partial deficiency is defined as 20 to 70 percent and is generally caused by a heterozygous mutation.
Factor XI Deficiency in Pregnancy
Pregnant women with factor XI deficiency are more likely to have postpartum hemorrhage (PPH). However, the risk of PPH is variable and cannot be reliably predicted by the genotype, the factor XI level or the bleeding history.
Management of factor XI deficiency depends on the severity and the patient’s history. The typical suggested management of factor XI deficiency is as follows:
- In the absence of a positive bleeding history, no routine factor XI replacement therapy is warranted prior to vaginal delivery, and a “watch and wait” approach with replacement therapy when bleeding occurs is recommended. Many will recommend routine factor replacement in the event of a cesarean delivery.
- Replacement therapy with fresh frozen plasma starting during labor should be considered in women with severe deficiency as well as women with a significant bleeding history. Therapy continues until 2 to 4 days postpartum.
- Consultation with OB anesthesia regarding the safety and possibile use of regional (epidural) anesthesia.
Maternal Fetal Medicine blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!