Ch 123: Inherited Deficiencies of Coagulation Factors II, V, V+VIII, VII, X, XI, and XIII

Question 1

____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.

Answer 1

Factor XIII

Question 2

Delayed umbilical cord bleeding reported in 80% of patients with factor ____ deficiency can be considered as a diagnostic symptom of the deficiency.

Answer 2

XIII

Question 3

considered as a diagnostic symptom of the factor XIII deficiency

Answer 3

Delayed umbilical cord bleeding

Question 4

CNS bleeding is reported in approximately ___% of cases making ______ mandatory in patients affected with severe factor XIII deficiency

Answer 4

30

primary prophylaxis

Question 5

common OB/gynecologic problems in women with factor XIII deficiency

Answer 5

menorrhagia and ovulation bleeding
recurrent abortions

Question 6

Pathophysiology of recurrent abortions in factor XIII deficiency

Answer 6

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.

Question 7

Possible pathiophysiology of factor xiii deficiency

Answer 7

[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.

Question 8

According to the EN-RBD results, blood levels of factor XIII that are ___% of normal are necessary to ensure an asymptomatic state;

Answer 8

30%

Question 9

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)

Answer 9

prophylactic FXIII replacement therapy

Question 10

In the absence of specific factor XIII concentrate, (3) can be used to increase FXIII activity.

Answer 10

cryoprecipitated, FFP, or
standardized virally-inactivated solvent- detergent–treated plasma

Question 11

Plasma factor XIII is an Mr 340,000 heterote- tramer composed of how many subunits?

Answer 11

2 (A and B)

Question 12

_____deficiency is the only RBD in which the EN-RBD study showed no association between clinical bleeding severity and coagulation factor activity level.

Answer 12

Factor XI

Question 13

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

Answer 13

FXI

Question 14

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.

Answer 14

factor XI

Question 15

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

Answer 15

XI

Question 16

Available treatments for patients with the severe form of factor XI deficiency are

Answer 16

FFP and factor XI concentrate.

Question 17

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.

Answer 17

10 to 15

4 g/day for three to five

Question 18

Also known as Hemophilia C

Answer 18

Factor XI deficiency

Question 19

the disorder is common in Jews, particularly those of Ashkenazi origin

Answer 19

Factor XI deficiency

Question 20

True or False

The clinical manifestations of factor X deficiency are related to the functional levels of the protein.

Answer 20

True

Question 21

The most common bleeding symptom reported at all levels of severity of F X deficiency is

Answer 21

epistaxis

Question 22

What deficiency

spontaneous ICH mostly during the first month of life

Answer 22

factor X deficiency

intracranial hemorrhage has been reported in 9% to 26%

Question 23

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.

Answer 23

10% to 20%

40%

Question 24

Treatment optioms for FX deficiency

Answer 24

plasma- derived factor X concentrate
freeze-dried human factor X concen- trate
detergent–treated PCCs
Virally-inactivated FFP

Question 25

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.

Answer 25

3% to 4%

Question 26

One of the unique characteristics of factor VII deficiency

Answer 26

At risk for thrombotic episodes