1 in 5 have this genetic risk factor for heart disease – but don’t know it

17 Jul

by Carolyn Thomas    @HeartSisters

Sandra Revill Tremulis was a healthy, fit woman who had a heart attack at the age of 39 despite an apparent lack of any cardiac risk factors. She’d never smoked, had a healthy diet, normal weight, normal cholesterol/blood pressure – and had run a marathon just the year before. So Sandra’s doctor ordered advanced blood tests and discovered that she had inherited a genetic abnormality that causes early heart disease. One in five people carry this gene, yet most are completely unaware that they do.

It’s called high Lipoprotein(a) – Lp(a) or “Lipoprotein little a”- and the gene was passed on to Sandra from her Dad, who had died at age 50 of a massive heart attack. As high levels of Lp(a) travel through the bloodstream, it collects in the arteries, leading to gradual narrowing of the artery that can limit blood supply to the heart, brain, and kidneys as well as the legs. It can increase the risk of blood clots, heart attack or stroke.

Listen to her compelling story, and find out more about “Lipoprotein little a” from the non-profit foundation she launched.

Sandra reminds us that your doctor or nurse cannot tell you have high Lp(a) just by examining you. The required diagnostic blood test is not the same as typical cardiac tests (like standard cholesterol blood tests). For many, the first sign of this condition is a heart attack or stroke.

Screen Shot 2016-06-29 at 1.46.40 PM

Q:  Do you or somebody you know live with Lipoprotein(a)?

More info from the Lipoprotein(a) Foundation:

22 Responses to “1 in 5 have this genetic risk factor for heart disease – but don’t know it”

  1. bveltrop72 August 10, 2016 at 7:49 pm #

    Mom is now on a medication called Repatha. They think she is one of the people with this genetic mutation but without genetic testing. I’m encouraged by the science but afraid what America’s current health insurance would do with the genetic testing information. If after the elections in November they successfully repeal Obamacare, millions will be left in the cold.


    • Carolyn Thomas August 10, 2016 at 8:22 pm #

      Hello Beth – I’m not an American, but from what I read, repealing Obamacare is a big priority for Trump and WILL happen after your elections. Best of luck to your Mom…


  2. The Accidental Amazon July 21, 2016 at 1:15 pm #

    Wow. Thank you, Carolyn. Eye-opening, to say the least. I have read some info about how the average lipid panel doesn’t really tell the whole story. I’ve read that some cardiologists may recommend more complete tests, to find out in more detail what kind of lipoproteins we have, especially low-density lipoproteins, because they’re not all the same. Do you know much about this? This genetic mutation is certainly another piece of the puzzle.

    Liked by 1 person

    • Carolyn Thomas July 21, 2016 at 2:18 pm #

      Hi Kathi! – Yes, there are some other types of cholesterol tests (e.g. LDL subfraction testing that looks at the size and number of LDL particles) especially in people who don’t have typical cardiac risk factors. They’re not specifically diagnostic so much as risk factor assessment tools.

      Liked by 1 person

  3. DR July 19, 2016 at 7:25 am #

    Thank you for posting about this. Many cardiologists aren’t even familiar with this test. I had a heart attack at the age of 34. After numerous tests that came back “perfect” I’ve never been able to find out the cause of my heart attack (my arteries showed clean on the angiogram). Finally I found a cardiologist at a teaching hospital that was very familiar with Lp (a) and had even done some research on it herself. She recommended the test for me, along with genetic testing. Come to find out, my Lp (a) is very high at 264 and my genes also put me at very high risk.


    • Carolyn Thomas July 21, 2016 at 2:26 pm #

      DR, your story illustrates how important it is to find a cardiologist who is familiar with this diagnosis. Best of luck to you…


  4. millercanning July 18, 2016 at 4:12 pm #

    I just learned after my 3rd heart attack that I have the PCSK9 gene mutation. Any specific info on how many people have this issue?

    Liked by 1 person

    • Carolyn Thomas July 19, 2016 at 3:21 pm #

      I am not at all an expert in PCSK9, but I do know that some studies have pegged rates of about 2% of black people living with either of the two PCSK9 mutations, and about 3% of white people.


      • millercanning July 27, 2016 at 5:10 pm #

        Those are pretty low rates. No wonder it’s $15k for the medication. My insurance won’t pay. AMGEN won’t donate but they offer it for $5 a month to anyone with commercial insurance.


        • Carolyn Thomas July 27, 2016 at 6:24 pm #

          That’s quite a range: from $15k to $5/month?!?! Hope you qualify for that $5 rate. Best of luck…


  5. Joan Jahnke July 17, 2016 at 2:10 pm #

    Hi Sandra. I am not sure when you did this importanti video but I was a little taken aback by the statement that Lp (a) does not have treatment.

    I am treated by prescription Niacin and it knocked down my otherwise unmeasurable “off the charts” Lp (a). My lipids were pretty good but all efforts plus statin did not move my LDL & HDL to where we felt it should be.

    Once the Niacin worked and within 3 months, the lipid profile was very different and the Lp (a) way, way down easing the HDL up and the LDL down. That was 2006 and remains unchanged.
    I have had no MI and have non-obstructive coronary arteries (confirmed by heart caths and IVUS) but do have Coronary Microvascular Dysfunction (CMVD)with one theory that this is early CAD.

    My risk is that of obstructive disease, heart failure but with preserved ejection, acute coronary event and stroke despite all my healthy efforts!

    I am on statin, low dose, aspirin, fish oil and niacin since 2006. I take the Niacin at bedtime along with statin and aspirin. I am 71 years old. I look forward to hearing from you and letting another Lp (a) friend know about your important foundation.
    Joan Jahnke.
    South Carolina

    Liked by 1 person

    • Carolyn Thomas July 17, 2016 at 2:20 pm #

      Thanks so much for sharing your Lp(a) experience here, Joan. I hope Sandra will weigh in as well to address your comments. My observation: there appears to be significant regional differences in cardiac care/protocols – not just in addressing Lp(a) or MVD, but with virtually every type of cardiac diagnosis.


    • Sandra Tremulis July 18, 2016 at 7:28 am #

      Joan, there is nothing approved by the FDA with Level 1 data approved to treat high Lp(a). I like you take the medications you mention and Niacin, aspirin, fish oil have shown potential to reduce Lp(a) as you can see on our website under potential treatments.

      They are all incremental lowering of anywhere from 15 – 30%. There are some potential therapies on the horizon that lower Lp(a) by 90%, but they are only beginning phase III trials at this point. Hope this helps. Statins have not been shown to reduce Lp(a) but reduce risk from LDL-C.

      Liked by 1 person

      • Carolyn Thomas July 18, 2016 at 12:17 pm #

        Thanks for responding, Sandra – and thanks also for the good work that you and your Foundation are doing.


      • Cynthia T. July 18, 2016 at 4:09 pm #

        Sandra, I thank you for sharing your information. I just wanted to bring your attention to your link that you have listed for your website in this post. The link is misspelled. The n and d in the word foundation are transposed. I found it when I tried clicking your link to go to your website. Blessings!

        Liked by 1 person

    • Cindy Multerer July 18, 2016 at 5:13 pm #

      Joan, have you had any side effects from the statins? I took 80mg for 3 months and the brain fog, memory loss and fatigue was just awful. I quit taking it and feel great again! Other than the worry of the possible stroke and HA! 😉


    • DR July 19, 2016 at 7:26 am #

      The cardiologist I see is on the advisory board for the Lp(a) Foundation and has told me that there is no definitive evidence that Niacin helps and that the side effects usually outweigh any benefit. But, if it has helped lower yours then that’s fantastic! Maybe it works in some people but not others. So much information is still to come with Lp(a).


      • Carolyn Thomas July 19, 2016 at 3:32 pm #

        Hello DR – The opinions are mixed with niacin. Cleveland Clinic cardiologist Dr. Stan Hazen says that while niacin is “slightly effective” in lowering Lp(a), he doesn’t prescribe it for Lp(a) alone. Clearly, it’s working well for Joan along with her other meds.


  6. Cristy Kintop July 17, 2016 at 9:07 am #

    This, THIS feels like the missing piece to my puzzle! I am a very healthy 59 year old, and recently had an angiogram with LAD stent placement. I have been thinking obsessively about which risk factors I might have better controlled to prevent CAD (even though I have none). I am relieved and intrigued, and will contact my cardiologist about testing for Lp(a)!

    Liked by 1 person

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