WorldThrombosisDay

WorldThrombosisDay t1_is0ouji wrote

As the evidence base for MTHFR being associated with any psychiatric diagnosis shows that we are not clear there is any relationship at all, I would not be supplementing patients with folic acid.

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WorldThrombosisDay t1_is0osjs wrote

A healthy diet is full of folic acid, so no supplementation should be required. As you are a concerned mother, I am sure you are feeding your girls well, and don’t need to worry about this.

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WorldThrombosisDay t1_is0oqct wrote

Interesting one. Folic acid supplementation should not be required in those following a healthy diet. But considering their general health, if someone has an unhealthy diet they may have multiple deficiencies so maybe they should take a multivitamin pill, which includes folic acid?

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WorldThrombosisDay t1_is0ooom wrote

Anticoardiolipin antibodies are one of three tests that are done to see if an individual has “antiphospholipid antibodies.” Antiphospholipid antibodies carry an increased risk of thrombosis and in women can cause problems in pregnancy. Yes, they should be part of thrombophilia testing.

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WorldThrombosisDay t1_is0oluq wrote

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WorldThrombosisDay t1_irw8zdl wrote

World Thrombosis Day is on Thursday, October 13! Next year is the 10th anniversary of the campaign, which focuses attention on the often overlooked and misunderstood condition of thrombosis (blood clots). The campaign has thousands of educational events in countries around the world. There are lots of ways you can get involved in and support World Thrombosis Day this week. Here are a few ideas: https://www.worldthrombosisday.org/news/post/your-guide-week-world-thrombosis-day/

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WorldThrombosisDay t1_irs2mju wrote

I agree with you! In England, we have something called the "plain English campaign," and they will help you write leaflets to keep the language very simple. In academic medicine, many journals now ask for a laymen's abstract, which means that you have to simplify your findings for a lay person. However, having simplification of the figures and tables seems difficult.

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WorldThrombosisDay t1_irs2dja wrote

I can't talk about a specific patient because I don't have enough information and they have to be my own specific patient, otherwise I could lose my ability to practice! However, I can say that if I saw a young man with a popliteal artery thrombosis, I would not think it was Buergers because Buergers affects the small tiny arteries first. And therefore it wouldn't present usually just in one leg - it would affect the fingers and toes first.

Secondly, the thrombophilia I would be looking for would be antiphospholipid syndrome, which is notorious for affecting young people. Lastly, raised homocysteine levels do not cause thrombosis in blood vessels such as the popliteal artery, neither do the 4G/5G polymorphism.

If you have mildly raised homocysteine levels, it's also because you're not eating enough folic acid. Folic acid is a vitamin in present in green foods, so I always encourage patients to follow the old wives tale of "eat your greens."

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WorldThrombosisDay t1_irs1jn4 wrote

The EU and FDA regulatory authorities don't appear to have any capacity the uptake of genetic testing. If they didn't, we wouldn't be here today having this AMA because they would have asked everybody to remove MTHFR from thrombophilia testing.

I think it would be a great idea if they did have more control about who did what tests for what individual. Thanks for the great question!

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WorldThrombosisDay t1_irs10ho wrote

It's an interesting question. I've had a quick look at the literature and as far as I can see, there is no clear link between MTHFR and schizophrenia. I think you'll have to go and ask a psychiatrist what the latest opinion is.

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WorldThrombosisDay t1_irs0j12 wrote

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WorldThrombosisDay t1_irs0djq wrote

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WorldThrombosisDay t1_irs03kd wrote

Sorry you are having problems. The options to estrogens for birth control for people who have had previous clots or have had a thrombophilia are: progestogen only pill, progesterone implants, coils (I find the coils such as the Mirena coils particularly good), and mechanical methods. The only method you can't uses is the combined oral contraceptive pill.

Many thrombosis experts would offer the combined oral contraceptive pill if the woman had no other option and they were taking long-term anticoagulation because they had already had a clot.

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WorldThrombosisDay t1_irrzjq8 wrote

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WorldThrombosisDay t1_irrz60w wrote

The MTHFR variant is not related to increased risk of venous thromboembolism (VTE). There are six tests that are definitely associated with increased risk of venous thromboembolism and should be on any inherited thrombophilia testing.

They are: measuring functional antithrombin levels, protein C levels, protein S levels, looking for Prothrombin 22 10, measuring fibrinogen levels, and lastly doing a test for Factor V Leiden.

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WorldThrombosisDay t1_irryilh wrote

It's a gene change in the molecule MTHFR and it shouldn't be tested for in those who have had a clot because it's got nothing to do with clots. It doesn't increase the risk of thrombosis.

Removing MTHFR from standard thrombophilia testing will reduce the confusion, emotional upset, and misinformation that it currently causes in the patient group.

https://www.worldthrombosisday.org/news/post/wtd-publishes-new-resources-recommending-mthfr-should-be-removed-thrombophilia-testing-panels/

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WorldThrombosisDay t1_irry7fp wrote

>MTHF

MTHFR is short for methylenetetrahydrofolate reductase, which is an enzyme that is involved in getting and removing homocysteine from the blood. Homocysteine is a toxin that the body likes to break down. In 1988, it was found that some people had a gene change in their MTHFR gene. This was a gene change at position 677. This change meant that if an individual had this change, when they were short of a vitamin called folic acid, they were not so good at metabolizing homocysteine. Sorry this is so complicated!

After it was discovered, there were studies that suggested just maybe this change was associated with increased risk of having blood clots (VTE). This led to the MTHFR test being added to thrombophilia testing. But in actual fact, it wasn't properly validated. In the last five years, we know from beautiful, large, randomized, controlled trials that MTHFR has nothing to do with a higher rate of blood clots.

Indeed, we have learned more than that. We have learned that if we give people with this defect folic acid, it makes no difference to their VTE risk. So I hope you can see that MTHFR testing is therefore not a thrombophilia test. The problem is that lots of labs aren't up to date and they have not removed it from their testing.

The other problem is that the MTHFR change is present in a single dose in 46% of the population, and a double dose of the change is present in 12% of the population. That means over half of the population have got this change! So, we really shouldn't be testing for something that is expensive to test for and is present in normal people.

Here are a few new resources talking about this: https://www.worldthrombosisday.org/news/post/wtd-publishes-new-resources-recommending-mthfr-should-be-removed-thrombophilia-testing-panels/

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WorldThrombosisDay t1_irrx21t wrote

>What is thrombophilia? I get that thrombosis is a medical condition involving the arteries around the heart, but doesn't the -philia suffix denote an affection for something?

Great question! "Thrombo" is short for thrombosis (or blood clot) and "philia" means "loving." So thrombophilia is loving clots.

What we mean by thrombophilia these days is looking for inherited or acquired things that predispose to having venous thromboembolism (VTE).

Venous thromboembolism is when you have a deep vein thrombosis (DVT - a clot in the deep vein of the leg) which can break off and cause a pulmonary embolism (PE - when the clot moves to the lungs).

These days, laboratories across the world agree on the essential factors we need to test for, but there has been disagreement about some of the factors, and therefore some laboratories are doing many more tests than others.

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