Ch 123: Inherited Deficiencies of Coagulation Factors II, V, V+VIII, VII, X, XI, and XIII Flashcards
____deficiency causes formation of blood clots that are unsta- ble and susceptible to fibrinolytic degradation by plasmin.
As a result, affected individuals have an increased tendency to bleed and rebleed.
Factor XIII
Delayed umbilical cord bleeding reported in 80% of patients with factor ____ deficiency can be considered as a diagnostic symptom of the deficiency.
XIII
considered as a diagnostic symptom of the factor XIII deficiency
Delayed umbilical cord bleeding
CNS bleeding is reported in approximately ___% of cases making ______ mandatory in patients affected with severe factor XIII deficiency
30
primary prophylaxis
common OB/gynecologic problems in women with factor XIII deficiency
menorrhagia and ovulation bleeding
recurrent abortions
Pathophysiology of recurrent abortions in factor XIII deficiency
The exact process of pregnancy loss in factor XIII deficiency is not clear, but it seems that maternal factor XIII-A subunits accumulate in the placenta, at the joining site of maternal and fetal tissues, thereby contributing to the formation of the cytotrophoblastic shell and stabilization of the fibrinoid layer.
In the severely affected women, formation of the cytotrophoblastic shell is impaired, leading to detachment of the placenta and subsequent spontaneous miscarriage.
Possible pathiophysiology of factor xiii deficiency
[The exact mechanism by which factor XIII, or factor XIIIa, exerts its beneficial effect on wound healing is unknown. ]
A proangiogenic effect of factor XIIIa was described, suggesting that decreased vascularization of wounds results in improper repair.
According to the EN-RBD results, blood levels of factor XIII that are ___% of normal are necessary to ensure an asymptomatic state;
30%
Patients with congenital FXIII deficiency are generally treated with _____, which is efficient and successful because of the long factor XIII half-life (7–14 days)
prophylactic FXIII replacement therapy
In the absence of specific factor XIII concentrate, (3) can be used to increase FXIII activity.
cryoprecipitated, FFP, or
standardized virally-inactivated solvent- detergent–treated plasma
Plasma factor XIII is an Mr 340,000 heterote- tramer composed of how many subunits?
2 (A and B)
_____deficiency is the only RBD in which the EN-RBD study showed no association between clinical bleeding severity and coagulation factor activity level.
Factor XI
This disorder manifests as a mild to moderate bleeding manifestation, and most bleeding episodes of patients with severe ___ deficiency are injury-related.
Some patients with this severe deficiency may not bleed at all after trauma
FXI
Women with this factor deficiency have no significant change in plasma levels during pregnancy.
The antenatal care rarely poses any problems in women with bleeding diatheses and the first trimester miscarriage rate is comparable with that of the general population.
factor XI
Surgical procedures involving tissues with high fibrino- lytic activity (urinary tract, tonsils, nose, and tooth sockets) frequently are associated with excessive bleeding in patients with severe factor ____ deficiency, irrespective of the genotype
XI
Available treatments for patients with the severe form of factor XI deficiency are
FFP and factor XI concentrate.
Dosing:
A single low rFVIIa dose of ____ mcg/kg at the end of surgery in addition to tranexamic acid initiated two hours before surgery at the dose of ___g/day for _____ days was demonstrated to be safe and sufficient to normalize the thrombin generation.
10 to 15
4 g/day for three to five
Also known as Hemophilia C
Factor XI deficiency
the disorder is common in Jews, particularly those of Ashkenazi origin
Factor XI deficiency
True or False
The clinical manifestations of factor X deficiency are related to the functional levels of the protein.
True
The most common bleeding symptom reported at all levels of severity of F X deficiency is
epistaxis
What deficiency
spontaneous ICH mostly during the first month of life
factor X deficiency
intracranial hemorrhage has been reported in 9% to 26%
Management:
To treat soft tissue, mucous membrane, and joint hemorrhage. The aim of treatment should be maintaining a factor X level that is at least ______ of normal for minor bleeding.
For more serious hemorrhage, a factor X level that is greater than ___% of normal should be the goal.
10% to 20%
40%
Treatment optioms for FX deficiency
plasma- derived factor X concentrate
freeze-dried human factor X concen- trate
detergent–treated PCCs
Virally-inactivated FFP
Thrombotic episodes have also been reported in _____ of patients with factor VII deficiency, particularly in the presence of surgery and replacement treatment, but spontaneous thrombosis may also occur.
3% to 4%
One of the unique characteristics of factor VII deficiency
At risk for thrombotic episodes
