Factor II Genetic mutation

Question 1

what is factor II genetic mutation?

Answer 1

mutation that causes the body to produce too much of the prothrombin protein, making blood more prone to clotting

aka excessive clotting

Question 2

what is factor II?

Answer 2

prothrombin

Question 3

what is factor IIa?

Answer 3

thrombin

Question 4

what does thrombin do?

Answer 4

pieces together fibrin to initiate a clot

that fibrin clot is then cross- linked and stabilized by factor XIIIa

thrombin is making “yarn” out of fibrin so you can knit a sweater!

Question 5

what’s another name for factor II genetic mutation?

Answer 5

Prothrombin G20210A Gene Mutation

“G20210A” for short

Question 6

what is the mutation that causes factor II genetic mutation?

Answer 6

point mutation that substitutes the single amino acid guanine for adenine in the 20210th position of the protein peptide

there are others that cause the same condition but G20210A is the most common

Question 7

why are people with factor II genetic mutation more likely to clot?

Answer 7

prothrombin concentration is increased so more of it will be converted to activated thrombin

More thrombin leads to more conversion of fibrinogen to fibrin.

Since fibrin is part of the actual clot, there may be more clotting as a result, particularly in response to injury.

This explains why patients with factor II genetic mutation are more prone to clotting.

Question 8

what differentiates factor II genetic mutation from other thrombophilia?

Answer 8

venous clots

most common clot is the deep vein thrombosis (DVT)

Question 9

what is a DVT?

Answer 9

venous clot

usually in the leg

causes local symptoms, such as unilateral swelling and pain

Question 10

what’s the most concerning aspect of DVTs?

Answer 10

their ability to travel from the original source

when these clots embolize to other parts of the body, they can cause much more damage

they usually go where all venous blood goes, the lungs….

Question 11

what is a pulmonary embolism?

Answer 11

a feared complication of a DVT that can be lethal

it’s when a DVT travels to the lungs…

Question 12

other than a PE, what other complication can DVTs cause?

Answer 12

strokes….

patent foramen ovale (PFO) is a hole between the left and right atria (upper chambers) of the heart

PFO connection of the venous and arterial circulation through the atrial wall can allow blood clots to bypass the pulmonary circulation and travel to the brain, causing strokes

Question 13

what’s the clinical presentation fo someone with factor II genetic mutation?

Answer 13

presents as someone with a clot

could be an unprovoked first-time clot or a clot in someone who has had many DVTs before

Question 14

what is a provoked DVT?

Answer 14

a DVT that is accompanied by circumstances that promote clotting.

this includes pregnancy, surgery, trauma, or long periods of immobility (truck drivers, long plane travel, etc.)

Question 15

what is an unprovoked DVT?

Answer 15

a DVT that forms without any triggering circumstances/conditions

a patient who doesn’t have circumstances to provoke a DVT who gets a DVT anyway is a red flag for thrombophilia

Question 16

what population is factor II genetic mutation most common in?

Answer 16

caucasians

second for most common thrombophilia in Caucasians, right behind Factor V Leiden

Question 17

what is the diagnostic test for factor II genetic mutation?

Answer 17

polymerase chain reaction (PCR)

used to see if an individual has a mutation

PCRs are not affected by medications, other conditions, or much of anything else - individuals will either have the mutation or they won’t

Question 18

What are the two indications to test for factor II genetic mutation?

Answer 18

Recurrent deep vein thrombosis or unprovoked deep vein thrombosis

Question 19

How does factor II genetic mutation lead to hypercoagulability?

Answer 19

Increased production of prothrombin