Hemoglobinopathies

Question 1

How is a factor five Leiden thrombophilia condition diagnosed

Answer 1

Diagnosis is established with a heterozygous or homozygous c.1691G > A variant in F5 gene with an APC resistance test

This is known as a risk allele: increases the risk for a condition, but is low penetrance

Question 2

What are the clinical manifestations of factor five Leiden thrombophilia?

Answer 2

Venus thromboembolism is the primary clinical manifestation. Most common is a deep vein thrombosis.
Pulmonary embolism may be less common than DVT

Question 3

What are factor five Leiden homozygotes at an increased risk for

Answer 3

They have an increased risk for Venus thromboembolism, and it is an increase of 9 to 12 fold higher.

Question 4

What are factor five Leiden heterozygotes at an increased risk for

Answer 4

The risk for Venus rumble embolism is increased 3 to 8 fold. The overall annual incidence of a first VTE is approximately 0.5%.

Question 5

What is the risk for VTE in pregnancy for those with factor five Leiden

Answer 5

Typically it’s a normal pregnancy that is associated with a 5 to 10 fold increased risk. The highest risk is six weeks postpartum. The risk is increased to 17 to 34 fold for homozygotes.

Those are the prior history of VTE have an increased recurrence risk of about 15%. Risk is increased in women with a prior unprovoked episode or an estrogen related VTE

Question 6

How does factor five Leiden rumble philia affect pregnancy loss

Answer 6

It is unlikely that a factor five Leiden thrombophilia is a major factor contributing to pregnancy loss and other adverse pregnancy outcomes

Question 7

What is the typical treatment for factor five Leiden?

Answer 7

The first VT is treated with an oral anticoagulant including: DABIGATRAN, EDOXABAN, RIVAROXABAN, APIXABAN. These are preferred over warfarin due to decreased bleeding risk

Treatment up to three months in those with DVT, and or pulmonary embolism associated with a reversible risk factor

Low molecular weight heparin is the preferred anti-thrombotic agent for treatment during pregnancy

Question 8

What increases the risk for thrombophilia?

Answer 8

Malignancy, central venous catheter use, travel, combined oral contraceptives, progesterone contraception, oral hormone replacement therapy, obesity, minor leg injury, surgery, age

Question 9

What is the rule of fives

Answer 9

5% of the population is heterozygous for factor five Leiden
5% chance of a clot by age 65 in heterozygotes
5% increased risk of DVT relative to the general population