February 28 is “Rare Disease Day” – FH is a Rare Disease That’s Just Not That Rare

Familial Hypercholesterolemia (FH) is a genetic disorder of LDL cholesterol handling which can lead to heart attack and stroke at very young ages. You may be shocked to learn that afflicted children as young as four years old have required bypass surgery or even perished from heart attacks. More surprising still is the fact that we now recognize that FH is far more common than previously believed. Some studies indicate that one in 200 people has a “milder” form of the disease, while one in 160,000 suffers from its most severe variant. It’s all FH though, and even in mild cases the risk of heart attack can be 20 times that of a “normal” individual.cholesterol meter Heart attacks in such cases occur much earlier in life than would ordinarily be anticipated. Here’s an example to which everyone can relate. 20% of patients who have heart attacks under the age of 45 have FH. Consider all the young people you know who’ve had heart attacks. One fifth of them probably have this genetic disorder. That is a huge number. The most recent estimate puts the number of FH patients in the US at 1 to 2 million. So that is certainly not rare! The number of extraordinarily severe cases is probably between 2 and 3 thousand, qualifying for the definition of a rare disease – being fewer than 200,000 in the US. Distressingly, only about 10% of FH patients have been identified as having the disease. That leaves 90% unrecognized, undertreated, and at great risk. We must change this pattern.

It is imperative on this Rare Disease Day that we all do our part to spread the word about FH. If you or someone you love has an LDL-C greater than 190 mg/dL you very likely bear this genetic malady. That means every one of your first-degree relatives – parents, siblings, and yes, even your children – has at least a 50% chance of also having the disease. Early treatment is key to improving outcomes. That’s why we recommend all children with a family history of premature heart disease or very high LDL cholesterol have their initial cholesterol level checked at the age of 2. By identifying family members with FH we can then treat them accordingly. Early recognition saves lives, sparing families the agony of losing a young, vibrant relative in the prime of her life. The good news is that there is much we can offer patients with FH. Novel medications and procedures such as LDL apheresis can dramatically lower LDL levels.

To learn more about such treatment strategies, please visit the FH Foundation at thefhfoundation.org.  If you believe you might have FH, please join our National Registry, the CASCADE FH Registry and become one of the many people who will help us curtail the terrible toll FH often takes. We look forward to hearing from you!

To learn more about LDL apheresis treatment options visit preventivecardiologyinc.com. Explore more preventive health issues at fpim.org.

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The Truth about Truth in Medicine

I have read one too many blogs that speak about the “Truth” in one area of medicine or another. As long as such blogs and news reports and even scientific journals perpetuate the notion that in Medicine we have the capacity to know the “Truth” we will continue to have unhappy patients and argumentative doctors. Sadly I have not yet met a man or woman in the sciences who has conversed with god about medical issues (or any other issues, for that matter). Until such time as we actually do find a way to communicate with “the big guy” we must refrain from bolstering our beliefs and contentions into the realm of the absolute. I have stated this before but I believe it requires repeating: Medicine is a process. We are continually learning, creating novel theories and abandoning old beliefs. One day we might be sure of something and the next day we laugh to ourselves as we learn how wrong we were. On a personal note, I spend a great deal of time exploring a variety of health-related issues. My studies often take me to the depths of cell biology and molecular biology. I even find myself immersed in the swamps of genetics. Each time I explore these spheres I gain greater knowledge about that which I am studying. I also reinforce my understanding about how little we (and I) actually know. Even discoveries from our Nobel Laureates become démodé as new Nobel Laureates pave different pathways. This is simply the nature of science and medicine. And it is wonderful. So I implore you to help eradicate the misperception that in Science and Medicine we have access to truth. By so doing, you will help bring a tranquility to the practice of Medicine that will in turn make doctors and patients far more comfortable in their respective roles as teachers and students. We are not and should not be considered members of the clergy.

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Caramelized Brussel Sprouts

brussel sprouts12 ounces Brussels sprouts, halved
Course salt
Ground pepper
2 T Olive oil
1 T fresh lemon juice

In a large skillet, combine sprouts and 1/2 cup water. Bring to a simmer over medium heat. Cover; cook, stirring occasionally, until most of the water has evaporated and sprouts are crisp tender, about 5 minutes (add more water if skillet becomes dry before sprouts are done).

Increase heat to medium-high; add olive oil to pan. Continue to cook, uncovered, without stirring, until sprouts are golden brown on underside, about 5 minutes. Remove from heat. Stir in lemon juice; season with salt and pepper.

Brussels sprouts are delicious, high in fiber and like other vegetables in the cruciferous family, are rich in a wide variety of nutrients and antioxidants. You will know when Brussels sprouts are in season when they are readily available in the market; look for nice green, small-medium sized sprouts. To prepare for cooking, rinse in cold water and remove the ends with a paring knife. For maximum health benefits, do not overcook.

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Carpe Diem

Carpe Diem – Seize the Day! This powerful dictum always brings me back to Robin Williams’ moving portrayal of the beloved and inspiring professor in the film Dead Poet’s Society. It is a call to action, a renewal of the spirit and a return to optimism and determination, like the feeling of hopeful yearning we experience when we pledge those New Year’s resolutions. As the clock ticks away the final minutes of the old year, the excitement can be intoxicating. But so often we fail. After the rush of the New Year’s celebration fades and reality sets in, those ambitions can once again seem insurmountable. The truth is we very often unknowingly set ourselves up for failure.

Maybe this year we can keep a few rules in mind: Be realistic, keep it simple, and understand that self-motivation is essential when it comes to making real changes in your life. You have to be the one who is convinced you need to make a change. You have to really want it; your desire to make the change has to be greater than the desire to keep things the same. If you’ve ever spoken to someone who successfully stopped smoking or made any significant and lasting lifestyle change and asked them how they did it, the answer is always the same: “I wanted it and I just did it!”

Be realistic. Create short-term goals and make changes in small steps that are part of longer-term goals. If you need to lose twenty-five pounds, focus on losing five pounds. And instead of trying to lose five pounds in a week, focus on losing one pound a week. Acknowledge and reward your efforts and progress each step of the way, and never abandon your goals because of momentary failure or neediness. Remind yourself where you were last week or last month. If you are doing anything more than before, you have made progress. If you remain on the path you have chosen and your goals remain in view, your chance of attaining them becomes ever more likely.

Don’t get caught up in the false hope of quick fixes when it comes to making lifestyle changes. It is unfair and foolish to think that decades of unhealthful habits can be eradicated in a week or two.

Finally, don’t fall into the trap that fixing one thing you think has gone wrong is going to change your life. Getting to your ideal weight or driving a fancier car does not equal happiness. It’s not about trading places with someone else who seems to be better off than you are, or looking like the model on the cover of Vogue or GQ, and it’s not about turning back the hands of time. It’s about striving to be the best version of you at this moment and investing in your future. Health and happiness comes as a result of taking better care of you, inside and out, and requires addressing a multitude of factors every day of our lives. Don’t wait for all the stars to be in some perfect alignment; start now in the midst of everything. Today is the first day of the rest of your life.

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Mayo Clinic Cardiovascular Disease Prevention Conference – a Testament to the Dedication of Healthcare Practitioners

Okay. You read the title and immediately imagined a bunch of doctors and scientists lounging on the spectacular Mexican beaches while you – if you live pretty much anywhere in the US – dig yourself out from yet another snowfall. It is true that the beach is pristine. And yes, the weather is unbeatable. But, truth be told, every speaker and attendee spent days and evenings continually holed up in a windowless conference room discussing issues ranging from exercise and diet, to Familial Hypercholesterolemia (FH), to even the impact of COPD on CVD. The meeting was excellent. Great discussions, proposals for future collaborations, some colleagues reuniting while others being introduced to a new group of associates. The ACC/AHA Cholesterol and Risk Assessment Guidelines as well as the new BP Guidelines were hotly debated.

In all, it was a wonderful weekend that enabled us to exchange ideas, consider alternate approaches to our patients, and simply grow as doctors, nutritionists, and scientists. So while American Medicine continues to be a target of mostly criticism, rest assured there are many who continue to do their part to ensure the viability and continuation of truly top-notch healthcare and research.

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Fight Heart Disease in Women – Celebrate National Wear Red Day February 7th

Heart disease is the number one killer of women in the United States, causing more deaths than all forms of cancer combined. Join the American Heart Association and Go Red For Women by celebrating National Wear Red Day; wear a red outfit on February 7th, 2014 to increase awareness of the battle against heart disease in women. Solidarity and awareness are often needed to eradicate a foe. And make no mistake about it, heart disease and stroke represent terrible adversaries for women, even more so than for men. A few alarming statistics:

  • Women are 15 times more likely than men to die in the year following a heart attack.
  • 64% of women who die suddenly from heart disease had NO prior symptoms.
  • Women under 50 are 3 times as likely as men to die after a heart attack or bypass surgery.
  • A startling reality – marriage decreases cardiovascular disease risk in men but increases it in women!
  • Congestive heart failure in the setting of a normal pump function is much more common in women than men… and we don’t know how to effectively treat this.
  • “Traditional” risk factors and risk factor scoring can fail to adequately identify women with Cardiovascular Disease.
  • And to make matters even worse, diagnostic testing for heart disease is less accurate in women than in men.

Go Red for WomenMany women are unaware of the symptoms of a heart attack, or may attribute their symptoms as due to other causes. If you’re experiencing pain in your chest, jaw, neck or back, don’t assume it‘s just from the gym or a little extra stress. These could be symptoms of a heart attack – see a doctor.

Given this grave threat to women’s heart health we believe that it’s important for us all – men and women – to band together on February 7th and show support for the fight against heart disease in women by simply wearing Red.

photo credits: Go Red for Women

Learn more about preventive cardiology at www.preventivecardiologyinc.com.

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