Familial Hypercholesterolemia

By Stephen T. Sinatra, M.D., F.A.C.C., F.A.C.N., C.N.S., C.B.T.

“I do most things right and am in good health, but I have a family history of high cholesterol. My cholesterol is really high and my doctor says I have to do something about it. I’m really worried. What should I do?”

First, thank you to the HMDI visitor who submitted this important question, variations of which new patients have, over the years, asked me on countless occasions.

My short answer: stop losing sleep about it unless you have been diagnosed with an inherited condition called familial hypercholesterolemia that causes exceptionally high, and dangerous, cholesterol.

Aside from this genetic condition, I don’t get excited about the everyday “high” cholesterol that has people scared out of their wits. In fact, I wrote a book in 2012 called The Great Cholesterol Myth in an attempt to educate people about cholesterol. In it, I make the argument that cholesterol needs to be treated differently. By that, I mean, it doesn’t usually need to be treated except with respect because cholesterol is a natural substance made by the body for the body − to construct cell membranes, sex hormones, vitamin D, digestive acids, and much of the brain itself (25%!!!).

Here’s an article that gives you the basic facts about cholesterol.

Familial hypercholesterolemia is a different matter, and one you do need to take seriously. Here are the facts:

About one in 400 or 500 people have the most common form, called heterozygous familial hypercholesterolemia. I’ve seen only about one such case a year during my three-plus decades in practice.

What this means is, you inherit a chromosome defect from one parent that impairs your body’s ability to remove cholesterol (LDL) from the blood and maintain a normal level. In this situation, the cholesterol can rise excessively high, substantially increasing the risk of oxidation. It is oxidized cholesterol that’s dangerous as it leads to arterial plaque, and premature heart attacks and cardiovascular disease. Your total cholesterol can soar to 350 to 550 mg/dl.

Keep in mind that you are considered to have so-called “high cholesterol” if your level is over 200.

The rarer type of familial hypercholesterolemia – called homozygous − affects one in a million individuals. You inherit the genetic defect from both parents. Here, the cholesterol level can skyrocket to a 1,000. I never saw a case like this. At such high-rise levels, the blood becomes thick like ketchup and dangerous, and the only real option may be a liver transplant. The liver produces about a quarter of the body’s cholesterol.

Testing and Treatment for Hypercholesterolemia

People from families with a significant history of early heart attacks and very high levels of cholesterol need genetic testing and other appropriate tests. Even children should be tested.

Recently, a new class of powerful and expensive injectable drugs called PCSK9 inhibitors have emerged from years of research and development. They are intended for use against familial hypercholesterolemia as well as well as for patients intolerant of the widely prescribed cholesterol lowering statin drugs or for whom statins are not effective.

Two of the new drugs (Kynamro and Juxtapid) were approved in 2012 and 2013. Two more (Repatha and Praluent) were to be approved in 2015. There are safety concerns with all these drugs.

Cholesterol lowering medications represent a multi-billion pharmaceutical business and my continuing worry, as before with statins, is pushing cholesterol levels to unprecedented and unnatural low levels. I expect that these new drugs will also become overprescribed just as with statins.

My Recommendation

In cases of familial hypercholesterolemia, you need to work closely with your doctor.

If you were to come to me with this kind of a problem, I would use the best of both conventional and alternative medicine.

Conventionally, I might prescribe a statin or, very cautiously, possibly one of the new drugs that are available.

Integrating Alternative Treatments

I would also strongly recommend some integrative, if not alternative, remedies, including the following:

A heart-healthy diet such as my favorite PAMM Diet that combines the best of Mediterranean and Asian healing foods
First and foremost, avoid sugar, sweeteners, and, as much as possible, refined carbohydrates which contribute to inflammation and weight gain.
Eat tomatoes, spinach, and kale, rich in the antioxidant lutein.
Take antioxidant supplements such as CoQ10 (150-300 milligrams) daily, a form of vitamin E called tocotrienol (10-60 milligrams), and vitamin C (1,000 milligrams).
1-2 grams of fish or squid oil for anti-inflammatory protection.
Consider supplemental niacin (vitamin B-3, up to 1 gram) to improve HDL cholesterol and nattokinase (50 milligrams) to help thin the blood.
Regular physical exercise to help raise HDL cholesterol and lower LDL.
Last, but not least, grounding, which can reduce inflammation, improve blood flow, and help thin the blood.

For more information on familial hypercholesterolemia, visit the National Institutes of Health website here.