| Geno
|
Mag
|
Summary
|
| (C;C)
|
5
|
Factor XI deficiency
|
| (C;G)
|
3
|
carrier of factor XI mutation
|
| (G;G)
|
0
|
common in clinvar
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- FXI deficiency is a bleeding disorder due to reduced plasma FXI levels; low FXI levels are typically seen in homozygotes or compound heterozygotes but partial deficiency may be seen in heterozygotes (i.e. carriers).
- Patients with FXI deficiency should be assessed for the presence of other potentially confounding factors, such as low VWF levels and platelet dysfunction.
- Women with factor XI deficiency are at risk for menorrhagia, bleeding during childbirth and miscarriage, as well as post-partum hemorrhage (PPH).
- Management usually comprises treatment of traumatic bleeds and prevention of surgical or obstetric bleeding.
- Advance treatment planning before invasive dental procedures is essential to prevent excessive bleeding.
- Pregnancy in women with FXI deficiency requires specialized and individualized care provided collaboratively by an obstetrician, hematologist and anesthetist.
- NSAID (nonsteroidal anti-inflammatory drugs) and aspirin use may be contraindicated in individuals with inherited bleeding disorders due to their anti-aggregation effect on platelet function.
The full ClinGen Actionability report about congenital factor XI deficiency can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
