What is the “Terrible Paradox” of FH?

The National Lipid Association hosted its 2016 Scientific Sessions from May 19-22 of this year and included sessions on familial hypercholesterolemia (FH). Now, in recognition of FH Awareness Day (September 24), we go back and highlight some of their key discussions.

One of the many presenters at this year’s event was Josh Knowles who, in addition to being an assistant professor of cardiovascular medicine at Stanford, is also a chief medical advisor for the FH Foundation. Dr. Knowles highlighted findings from a study on FH that, among other things, drew attention to the “terrible paradox” of the disease.

According to Knowles, doctors often don’t diagnose FH until later in life, usually following a heart attack or other significant coronary event. But symptoms of FH present very early in life, making such a wait for diagnosis completely unnecessary. In Knowles’ own words:

“If we can identify patients and treat them early enough, we can avoid most of the morbidity and mortality associated with this condition”

So, basically, if FH patients can get diagnosed early in life, they could avoid the heart attacks later in life that, in actuality, lead to their diagnoses. Friggin’ great.

60s eye roll planet of the apes are you kidding me FH
[Source: giphy.com]
What other tidbits did the good doctor have to drop?

When discussing the diagnostic process, he said what’s become common knowledge with FH: “We never find an individual with FH, we only find families with FH.” Oooh, so that’s what the “F” stands for. Thanks, Doc. (Sad, though, that each new diagnosis will essentially grow the patient pool exponentially.)

Knowles estimates that there are probably 1 million people in the US living with FH, but less than 1% of those have actually been diagnosed.

To help treat those with FH and learn from the experiences of others, Knowles also plugged the national FH patient registry, which currently has approximately 2,900 people with the condition enrolled. That’s not bad considering the registry wasn’t even a thing until two years ago.

Being able to track FH patients has revealed just how far we have to go in treating it. Take this, for example:

Despite the fact that some of the best clinics in the country are treating people living with and diagnosed with FH, their levels of LDL cholesterol are still not being optimally controlled. Those experiencing the best control (and “best” is a relative term here), usually require more than 1 treatment to achieve their results.

This data is actually eerily similar to what it was 30 years ago… people aren’t being diagnosed soon enough, diagnoses are the result of serious cardiac events, and once diagnosed they’re not getting the results they need from any individual treatment.

So yeah, FH community, we’ve got some progress to make.


When it comes to FH, what would you like to see improve? How can we get there? Let us know in the comments below!

James Ernest Cassady

James Ernest Cassady

Though "Ernest" is a family name that's been passed down for generations, James truly earned his middle moniker when, at the age of five, he told his mother that "laughing is stupid unless EVERYBODY is happy." Since then, the serious little bastard has been on a mission to highlight the world's shortcomings (and hopefully correct them). In addition to his volunteer work at hospitals and animal shelters, James also enjoys documentaries and the work of William Faulkner. He is originally from Oklahoma.

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